837 results on '"Acrodermatitis"'
Search Results
2. Transient symptomatic zinc deficiency in an exclusively breastfed infant
- Author
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Ermelindo Tavares, Mafalda Santos, Mafalda Crisóstomo, and Florbela Cunha
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Physiology ,Case Report ,Intertriginous ,Breast milk ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Full Term ,Milk, Human ,business.industry ,Acrodermatitis ,Malnutrition ,Gestational age ,Infant ,General Medicine ,medicine.disease ,Zinc ,Breast Feeding ,030220 oncology & carcinogenesis ,Failure to thrive ,Zinc deficiency ,Female ,Flucloxacillin ,medicine.symptom ,business ,medicine.drug - Abstract
A 3-month-old, full term female infant, adequate for gestational age, and exclusively breastfed, was admitted with a 10 day history of generalised scaling erythematous dermatitis, affecting the face (perinasal, nasolabial folds and periauricular), acral and intertriginous areas, with irritability and failure to thrive. Her mother had been treated with isoniazid since the third trimester because of family contact with tuberculosis. Based on a diagnosis of suspected impetiginised eczema, the infant was treated with flucloxacillin and prednisolone, and maternal isoniazid was suspended, with no improvement. Investigations found low serum zinc levels in the infant (33 μg/dL; normal range (NR) >60 μg/dL), normal plasma zinc levels in the mother (111.3 μg/dL; NR 68–120 μg/dL) and lower than the normal range of zinc levels in breast milk (270μg/L; NR 1000–2500 μg/L), suggesting acrodermatitis caused by zinc deficiency. Oral zinc supplementation (3 mg/kg/day) was started with a marked improvement in skin lesions, as well as good weight gain. At the age of 6 months, after food diversification, supplementation was suspended, without any recurrence of symptoms.
- Published
- 2023
3. Palmoplantar pustulosis and acrodermatitis continua of Hallopeau: demographic and clinical comparative study in a large multicentre cohort
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F, Assan, B, Husson, S, Hegazy, J, Seneschal, F, Aubin, E, Mahé, D, Jullien, E, Sbidian, M, D'Incan, C, Conrad, E, Brenaut, C, Girard, M A, Richard, H, Bachelez, and M, Viguier
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Adult ,Male ,Skin Diseases, Vesiculobullous ,Arthritis ,Primary Immunodeficiency Diseases ,Acrodermatitis ,Dermatology ,Middle Aged ,Infectious Diseases ,Humans ,Psoriasis ,Female ,Demography ,Retrospective Studies - Abstract
Acral pustular disease within the pustular psoriasis/psoriasis-like spectrum mainly includes palmoplantar pustulosis (PPP) and acrodermatitis continua of Hallopeau (ACH). Scarce data argue for a distinction between these two entities, but no study has compared the clinical and epidemiologic characteristics of ACH and PPP.We aimed to perform a comparative description of the epidemiological and clinical characteristics of PPP and ACH in a multicentre retrospective cohort.In this multicentre national retrospective cohort study, we compared the epidemiological characteristics, comorbidities and psoriasis characteristics of patients with PPP and ACH.A total of 234 patients were included: 203 (87%) with PPP, 18 (8%) with ACH and 13 (6%) with both, according to 2017 ERASPEN criteria. As compared with ACH, PPP was associated with female sex, smoking activity and higher median BMI (P = 0.01, P = 0.02 and P = 0.05 respectively). A family background of psoriasis was more frequent in PPP than ACH. Age of onset of palmoplantar disease was similar between PPP and ACH patients, median age 44 and 48 years respectively. Peripheral joint inflammatory involvement was the only rheumatic disease associated with ACH. The association with another psoriasis type was similar in PPP and ACH (57.6% and 61.1% respectively).Our study confirms in a large PPP cohort the predominance of females and a high prevalence of smoking and elevated body mass index but also shows an association of these features in PPP as compared with ACH. In addition, it highlights peripheral arthritis as the only arthritis endotype associated with ACH. Increased knowledge of the immunogenetic backgrounds underlying these two entities is warranted to better stratify pustular psoriasis or psoriasis-like entities for precision medicine.
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- 2022
4. Acquired Acrodermatitis enteropathica – an unusual cause of vulva ulceration in a post-operative patient: a case report
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Ngozi, Ekpemandu, Tarun, Attra, Daniel, Bailey, and Sarah, Walsh
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Zinc ,Aging ,Acrodermatitis ,Humans ,Female ,General Medicine ,Geriatrics and Gerontology ,Ulcer ,Aged ,Vulva - Abstract
Acrodermatitis enteropathica (AE) is a rare disorder which can be congenital or acquired. The main features are peri-orificial dermatitis, gastrointestinal symptom in the form of diarrhoea, acral dermatitis and alopecia, among others. This report aims to highlight that AE is an important differential diagnosis to consider, when managing older patients with mucosal infections or ulcerations. Here, we present the case of a 68-year-old female with end-stage liver disease who presented with a right inter-trochanteric femoral fracture following a fall and was noted, on admission, to have non-healing mucosal ulcers.
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- 2022
5. [Recurrent systemic sporadic rash for 10 years in a girl aged 11 years]
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Ke-Yao, Li, Jian-Ping, Tang, Ye, Shu, Shu-Zhen, Yue, Yu-Wei, Wang, Rong, Wen, and Bin, Zhou
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Male ,Zinc ,Recurrence ,Case Analysis ,Acrodermatitis ,Homozygote ,Humans ,Female ,Exanthema ,Child ,Cation Transport Proteins ,Trace Elements - Abstract
A girl, aged 11 years, was admitted due to recurrent rash on the whole body and mucosa for 10 years, and typical rash was erythema at the perioral region, hand-foot joints, vulva, and perianal region, with blisters, erosions, and ulcers on the erythema. The girl was improved after zinc supplementation. Her younger brother had similar rash and medical history. The histopathological examination showed epidermal parakeratosis with mild hyperkeratosis, severe spongiform edema of the stratum corneum, significant proliferation of acanthocytes, and vacuolation of keratinocytes. The genetic testing revealed that both the girl and her younger brother had a homozygous mutation of c.1456(exon9)delG in the SLC39A4 gene, and thus the girl was diagnosed with acrodermatitis enteropathica. It is concluded that for children with recurrent rash on the limbs and at the perioral region, genetic testing should be performed as early as possible to make a confirmed diagnosis, and a sufficient dose of zinc supplementation should be given, while the levels of trace elements such as blood zinc should be regularly monitored.
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- 2022
6. [Dermatologic manifestations of vitamin and mineral deficiency]
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Aline, Schöller and Cyrill, Géraud
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Zinc ,Pregnancy ,Acrodermatitis ,Malnutrition ,Humans ,Female ,Vitamins ,Skin Diseases - Abstract
Vitamin and mineral deficiency can lead to a wide variety of clinical symptoms. The skin, as a frequent site of manifestation of these diseases, can be a decisive cue for diagnosis. Deficiency occurs when micronutrients are insufficiently supplied to the organism, intestinal absorption is disturbed, or there are genetic defects that favor a deficiency. Predisposing factors and common triggers for diseases associated with deficiency in our latitudes are alcoholism, autism, psychiatric illnesses, eating disorders, special forms of nutrition (e.g., veganism), medications, gastrointestinal illnesses, bariatric surgeries, and periods of increased need (e.g., growth, pregnancy, lactation, infections). This article presents general and specific mucocutaneous changes that should suggest vitamin or mineral deficiency. Since vitamin C and zinc deficiency are among the deficiency dermatoses that cause characteristic skin symptoms, the symptoms of scurvy and acrodermatitis enteropathica are examined in more detail.Störungen in der Vitamin- und Mineralstoffversorgung können zu unterschiedlichsten Krankheitsbildern führen. Die Haut als häufiger Manifestationsort dieser Erkrankungen kann Schlüssel zur Diagnosestellung sein. Eine Mangelversorgung tritt auf, wenn die Mikronährstoffe dem Organismus quantitativ unzureichend zugeführt werden, die intestinale Resorption gestört ist oder genetische Defekte vorliegen, die eine Unterversorgung begünstigen. Prädisponierende Faktoren und häufige Auslöser für Mangelerkrankungen sind in unseren Breiten Alkoholismus, Autismus, psychiatrische Erkrankungen, Essstörungen, spezielle Ernährungsformen z. B. Veganismus, Medikamente, gastrointestinale Erkrankungen, bariatrische Operationen und Phasen erhöhten Bedarfs (u. a. Wachstum, Schwangerschaft, Stillzeit, Infektionserkrankungen). Dieser Beitrag zeigt allgemeine und spezifische mukokutane Veränderungen auf, die an einen Vitamin- oder Mineralstoffmangel denken lassen sollten. Da der Vitamin-C- und Zinkmangel zu den Mangeldermatosen zählen, die charakteristische Hautsymptome verursachen, werden die Krankheitsbilder Skorbut und Acrodermatitis enteropathica genauer beleuchtet.
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- 2022
7. Acroangiodermatitis presenting as unilateral hypertrophic verrucous plaques
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Kyle Lauck, Quoc-Bao Nguyen, Natasha Klimas, and Megan Rogge
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Arteriovenous Malformations ,Leg ,Rare Diseases ,Acrodermatitis ,Humans ,Female ,Dermatology ,General Medicine ,Syndrome ,Sarcoma, Kaposi ,Aged - Abstract
Acroangiodermatitis (AAD)[KL1] is a rare vasoproliferative disorder often involving the extremities that has been classified into two variants. Mali-type AAD is more common and associated with chronic venous stasis. Stewart-Bluefarb syndrome[KL2], the other variant, is associated with underlying arteriovenous abnormalities. Mali-type AAD is a relatively benign diagnosis but it may mimic more harmful etiologies such as Kaposi sarcoma both clinically and histologically. A 67-year-old woman with a history of varicose veins, deep vein thrombosis, stroke, and obesity presented to our outpatient clinic with verrucous red-brown papules and plaques on her right lower extremity worsening for three years. Biopsy was consistent with a diagnosis of Mali-type AAD. Providers should be aware of AAD and its variants to accurately differentiate it from more harmful entities.
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- 2022
8. Acrodermatitis chronica atrophicans: clinical and microbiological characteristics of a cohort of 693 Slovenian patients
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Vera Maraspin, Lara Lusa, T. Cerar Kišek, Katarina Ogrinc, Eva Ružić-Sabljić, and Franc Strle
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Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,Constitutional symptoms ,Slovenia ,Arthritis ,030204 cardiovascular system & hematology ,Borrelia afzelii ,medicine.disease_cause ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Borrelia burgdorferi Group ,Arthropathy ,Internal Medicine ,medicine ,Humans ,Aged ,Paresis ,Lyme Disease ,business.industry ,Acrodermatitis ,Middle Aged ,medicine.disease ,Dermatology ,030104 developmental biology ,Peripheral neuropathy ,Cohort ,Female ,Atrophy ,medicine.symptom ,business ,Acrodermatitis chronica atrophicans - Abstract
BACKGROUND Information on large groups of patients with acrodermatitis chronica atrophicans (ACA) is limited. METHODS We assessed clinical and microbiological characteristics of patients with ACA diagnosed at a single medical centre and compared findings in periods 1991-2004 vs. 2005-2018. The cohort is representative of Slovenian ACA patients. RESULTS We assessed 693 patients: 461 females and 232 males, with median age of 64 years. Median duration of ACA before diagnosis was 12 months. In all but 2 patients, the skin lesions were located on extremities, more often on the lower (70.0%) than the upper (45.2%), bilaterally in 42.4%. Reddish-blue discoloration, swelling, thinning and wrinkling of skin were present in 95.2%, 28.1%, 46.4% and 20.5% of patients, respectively. Overall, 64.4% of patients reported constitutional symptoms, 23.1% had local symptoms, and 20.8% had symptoms/signs of peripheral neuropathy. Nodules, arthritis, joint deformity, muscle atrophy and paresis were rare (
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- 2021
9. Acropustulosis (Acrodermatitis continua) with resorption of terminal phalanges
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B A, Adam and C L, Loh
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Fingers ,Acrodermatitis ,Humans ,Female ,Bone Resorption ,Aged - Abstract
No abstract available.
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- 2022
10. Psoriasiform plaques on the dorsa of the feet responding to zinc supplementation
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N. Tyagi, Poonam Elhence, Ravikumar Mudugal, and A. Budania
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medicine.medical_specialty ,Adolescent ,Foot ,business.industry ,Biopsy ,Acrodermatitis ,Psoriasiform plaques ,chemistry.chemical_element ,Dermatology ,Zinc ,Treatment Outcome ,chemistry ,Erythema ,Dietary Supplements ,medicine ,Humans ,Psoriasis ,Female ,business - Published
- 2020
11. Clinical characteristics, genetics, comorbidities and treatment of palmoplantar pustulosis: A retrospective analysis of 66 cases in a single center in Taiwan
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Tsen-Fang Tsai and Chang-Ming Huang
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Adult ,medicine.medical_specialty ,Palmoplantar pustulosis ,Taiwan ,Demographic study ,Dermatology ,Demographic data ,Single Center ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Psoriasis ,medicine ,Retrospective analysis ,Humans ,Retrospective Studies ,business.industry ,Interleukins ,Acrodermatitis ,General Medicine ,Middle Aged ,medicine.disease ,030220 oncology & carcinogenesis ,Mutation ,Generalized pustular psoriasis ,Female ,business - Abstract
We retrospectively analyzed 66 patients with palmoplantar pustulosis (PPP) from January 1994 to September 2019 in our department. Interleukin-36 receptor antagonist gene (IL36RN) intron 3 c.115+6T>C mutation was present in two out of 27 patients (7.4%). Both cases developed generalized pustular psoriasis and/or acrodermatitis continua of Hallopeau later. Topical medications and phototherapy were used in 93.9% and 28.8% of patients, respectively, while 60.6% received systemic agents. The majority of patients (60.6%) responded to treatment, but episodes of flare-up existed. The demographic data of our patients with PPP showed female predominance (59.1%), middle-age onset (44.2 years old) and current smokers (62.1%). Generalized pustular psoriasis initially presenting as palmoplantar lesions may be misdiagnosed as PPP, and the presence of IL36RN mutation may serve to predict or confirm the diagnosis of future generalized pustular psoriasis or acrodermatitis continua of Hallopeau. To our knowledge, this is the largest demographic study of PPP in Taiwan.
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- 2020
12. Dermatological manifestations of Epstein‐Barr virus systemic infection: a case report and literature review
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Giulia Ciccarese, Ilaria Trave, Aurora Parodi, Astrid Herzum, and Francesco Drago
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Adult ,Epstein-Barr Virus Infections ,Herpesvirus 4, Human ,medicine.medical_specialty ,Adolescent ,Mononucleosis ,Dermatology ,medicine.disease_cause ,Asymptomatic ,Young Adult ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Ampicillin ,medicine ,Maculopapular rash ,Humans ,Infectious Mononucleosis ,Child ,Exanthem ,business.industry ,Acrodermatitis ,Exanthema ,Amoxicillin ,medicine.disease ,Epstein–Barr virus ,Pharyngitis ,030220 oncology & carcinogenesis ,Female ,medicine.symptom ,business ,medicine.drug - Abstract
Epstein-Barr virus (EBV) is a human herpesvirus spread in childhood by contact with saliva. In all populations, the great majority of people are infected by middle age. EBV can cause asymptomatic infection, nonspecific symptoms or, especially in adolescents and young adults, the infectious mononucleosis (IM), characterized by pharyngitis, lymphadenopathy, fatigue, and fever. Two main types of skin rashes, accounted as atypical exanthems, occur in patients with acute IM: a faint erythematous maculopapular eruption of 24-48 hours duration (5-15% of the patients) or a pruritic maculopapular rash in almost all patients receiving ampicillin or amoxicillin. Moreover EBV acute infection has been related to other cutaneous manifestations, such as Gianotti-Crosti syndrome, unilateral laterothoracic exanthem (especially in children), and others. In this study, we reported a case of atypical exanthem with an erythematous-papulovesicular pattern in a 22-year-old female patient with IM and performed a review of the literature of the cutaneous and mucosal eruptions occurring during EBV acute infections.
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- 2020
13. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
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Yongfeng Chen, Wei Zhong, Yu-Qi Huang, Chao Yang, and Lei Zhu
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Male ,Heterozygote ,Genetic counseling ,Acrodermatitis enteropathica ,Case Report ,Genotype-phenotype ,medicine.disease_cause ,Compound heterozygosity ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Exon ,0302 clinical medicine ,Diseases in Twins ,Humans ,Medicine ,Missense mutation ,030212 general & internal medicine ,Cation Transport Proteins ,Genetics ,Mutation ,Splice site mutation ,business.industry ,Acrodermatitis ,lcsh:RJ1-570 ,Infant ,SLC39A4 gene ,lcsh:Pediatrics ,medicine.disease ,Periorificial dermatitis ,Pedigree ,Zinc ,Pediatrics, Perinatology and Child Health ,Female ,business - Abstract
BackgroundAcrodermatitis enteropathica (AE) is a rare autosomal recessive hereditary skin disease caused by mutations in the SLC39A4 gene and is characterized by periorificial dermatitis, alopecia and diarrhoea due to insufficient zinc absorption. Only one of the three known sets of twins with AE has genetic information. This case reports the discovery of new mutation sites in rare twin patients and draws some interesting conclusions by analysing the relationship between genetic information and clinical manifestations.Case presentationHere, we report a pair of 16-month-old twin boys with AE exhibiting periorificial and acral erythema, scales and blisters, while subsequent laboratory examination showed normal plasma zinc and alkaline phosphatase levels. Further Sanger sequencing demonstrated that the patients were compound heterozygous for two unreportedSLC39A4mutations: a missense mutation in exon 5 (c.926G > T), which led to a substitution of the 309th amino acid residue cysteine with phenylalanine, a splice site mutation occurring in the consensus donor site of intron 5 (c.976 + 2 T > A). A family study revealed that the boys’ parents were heterozygous carriers of these two mutations.ConclusionWe identified a new compound heterozygous mutation in Chinese twins with AE, which consisted of two previous unreported variants in exon 5 and intron 5 of SLC39A4. We propose an up-to-date review that different mutations in SLC39A4 may exhibit different AE manifestations. In conjunction with future research, our work may shed light on genotype-phenotype correlations in AE patients and provide knowledge for genetic counselling and treatment for AE patients.
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- 2020
14. Oral adverse events due to zinc deficiency after pancreaticoduodenectomy requiring continuous intravenous zinc supplementation: a case report and literature review
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Hironobu Hata, Yojiro Ota, Katsuhiko Uesaka, Yutaka Yamazaki, Tsubasa Murata, Chika Murai, Kazuhito Yoshikawa, Kenji Imamachi, Takashi Yurikusa, and Yoshimasa Kitagawa
- Subjects
Zinc ,Acrodermatitis ,Dietary Supplements ,Humans ,Female ,General Dentistry ,Aged ,Pancreaticoduodenectomy - Abstract
Background Zinc is mainly absorbed in the duodenum and proximal jejunum, which are removed during pancreaticoduodenectomy (PD). Little is known about the adverse oral events and skin disorders caused by zinc deficiency after PD. Herein, we reviewed studies on the development of zinc deficiency after PD and reported about a patient with zinc deficiency after PD who required home intravenous zinc replacement. Case presentation A 73-year-old woman with glossitis, taste disorder, and acrodermatitis enteropathica-like eruption on her fingers presented to the Division of Dentistry and Oral Surgery 69 days after PD. Her serum zinc level markedly decreased to 30 μg/dL. Oral zinc administration was inadequate to treat hypozincemia after PD; therefore, multi-trace elements were injected intravenously during readmission. Her serum zinc levels recovered, and her lesions gradually improved. Furthermore, a central venous port was implanted to maintain normal serum zinc levels, and she continued self-injecting zinc at home. Conclusions Zinc deficiency after PD rarely occurs. The clinical oncologist community, including dentists responsible for the oral care of cancer patients, should be aware of the oral adverse events, such as dysgeusia, glossitis, and oral pain, associated with zinc deficiency after cancer surgery and that induced by chemotherapy or head and neck radiation therapy.
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- 2021
15. Acrodermatitis chronica atrophicans in prolonged borrelia infection
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Hege Kilander, Høiberg, Anne Marit, Solheim, Sølvi, Noraas, and Åslaug Rudjord, Lorentzen
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Male ,Lyme Disease ,Escitalopram ,Acrodermatitis ,Humans ,Female ,Hand ,Aged ,Skin - Abstract
Acrodermatitis chronica atrophicans (ACA) is a late manifestation of Borrelia infection and is easily overlooked, especially in elderly patients.A woman in her fifties presented with dizziness, general muscle stiffness, chills, nausea and a feeling of transient shock in her head during dosage reduction of escitalopram. The symptoms were therefore initially misinterpreted as related to her psychiatric disorder. Four months after the first symptoms presented, she complained that her right foot had become one shoe size larger than her left. Skin manifestations were found to be consistent with acrodermatitis chronica atrophicans.Acrodermatitis chronica atrophicans is uncommon and affects women more than men. The skin changes mostly occur on the dorsal side of the extremities, often the feet or hands. The diagnosis is confirmed by positive serum antibodies (high level of IgG, and IgM can also be present), and a positive Borrelia PCR skin test.
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- 2021
16. A persistent plaque on the back of the hand
- Author
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S. Cameron, R. Ramakrishnan, and N. P. Patel
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Lyme Disease ,Doxycycline ,Acrodermatitis ,Humans ,Female ,Dermatology ,Hand ,Polymerase Chain Reaction ,Aged - Abstract
We report the case of a 75-year-old woman presenting with acrodermatitis chronica atrophicans affecting the right hand dorsum, developing after an insect bite sustained in Greece. Diagnosis was confirmed by serology, PCR and histopathological findings. The plaque resolved following a 3-week course of oral doxycycline. Click https://www.wileyhealthlearning.com/#/online-courses/4ebea04b-e4de-49d3-9bbb-0d3355007e92 for the corresponding questions to this CME article.
- Published
- 2021
17. A Missense Variant in SLC39A4 in a Litter of Turkish Van Cats with Acrodermatitis Enteropathica
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Kiener, Sarah, Cikota, Robert, Welle, Monika, Jagannathan, Vidhya, Åhman, Susanne, and Leeb, Tosso
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Male ,whole genome sequencing ,630 Agriculture ,Biopsy ,Acrodermatitis ,DNA Mutational Analysis ,zinc ,Mutation, Missense ,Felis catus ,610 Medicine & health ,QH426-470 ,Article ,Pedigree ,dermatology ,Cats ,Genetics ,590 Animals (Zoology) ,570 Life sciences ,biology ,Animals ,Female ,sense organs ,Cation Transport Proteins ,genodermatosis ,Skin - Abstract
In a litter of Turkish Van cats, three out of six kittens developed severe signs of skin disease, diarrhea, and systemic signs of stunted growth at 6 weeks of age. Massive secondary infections of the skin lesions evolved. Histopathological examinations showed a mild to moderate hyperplastic epidermis, covered by a thick layer of laminar to compact, mostly parakeratotic keratin. The dermis was infiltrated with moderate amounts of lymphocytes and plasma cells. Due to the severity of the clinical signs, one affected kitten died and the other two had to be euthanized. We sequenced the genome of one affected kitten and compared the data to 54 control genomes. A search for private variants in the two candidate genes for the observed phenotype, MKLN1 and SLC39A4, revealed a single protein-changing variant, SLC39A4:c.1057G>, C or p.Gly353Arg. The solute carrier family 39 member 4 gene (SLC39A4) encodes an intestinal zinc transporter required for the uptake of dietary zinc. The variant is predicted to change a highly conserved glycine residue within the first transmembrane domain, which most likely leads to a loss of function. The genotypes of the index family showed the expected co-segregation with the phenotype and the mutant allele was absent from 173 unrelated control cats. Together with the knowledge on the effects of SLC39A4 variants in other species, these data suggest SLC39A4:c.1057G>, C as candidate causative genetic variant for the phenotype in the investigated kittens. In line with the human phenotype, we propose to designate this disease acrodermatitis enteropathica (AE).
- Published
- 2021
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18. A pitfall in diagnosing psoriatic arthritis resolved by ultrasound: acrodermatitis continua suppurativa of Hallopeau
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Valentin S. Schäfer, Svenja Müller, Galina Balakirski, Sietske Poortinga, Dagmar Wilsmann-Theis, and P. Karakostas
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medicine.medical_specialty ,Perfusion Imaging ,Hand Dermatoses ,Diagnosis, Differential ,Psoriatic arthritis ,Finger Phalanges ,Nail Diseases ,Young Adult ,Rheumatology ,Adrenal Cortex Hormones ,Finger Joint ,medicine ,Humans ,Pharmacology (medical) ,business.industry ,Acrodermatitis ,Ultrasound ,Arthritis, Psoriatic ,Ultrasonography, Doppler ,medicine.disease ,Dermatology ,Arthralgia ,Radiography ,Methotrexate ,Treatment Outcome ,Antirheumatic Agents ,Female ,Ultrasonography ,business - Published
- 2021
19. Alopecia universalis‐like hair loss in acrodermatitis enteropathica
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D. Veitch, A. Shah, and Karen E. Harman
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medicine.medical_specialty ,business.industry ,Acrodermatitis ,Homozygote ,Acrodermatitis enteropathica ,Infant ,Alopecia ,Dermatology ,medicine.disease ,Zinc ,Hair loss ,Alopecia universalis ,Mutation ,medicine ,Humans ,Female ,business ,Cation Transport Proteins - Published
- 2020
20. Clinical Spectrum of Inherited Disorders of Metabolism
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R Abinesh, Lalitha Janakiraman, and Ramaswamy Ganesh
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Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Adolescent ,India ,Physiology ,Lysosomal storage disorders ,Newly diagnosed ,Consanguinity ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,medicine ,Humans ,Prospective Studies ,Mortality ,Child ,Amino Acid Metabolism, Inborn Errors ,Beta oxidation ,business.industry ,Mortality rate ,Acrodermatitis ,Infant, Newborn ,Infant ,nutritional and metabolic diseases ,Metabolism ,Peroxisome ,medicine.disease ,Lysosomal Storage Diseases ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Complication ,business ,Metabolism, Inborn Errors ,030217 neurology & neurosurgery - Abstract
To study the clinical profile and outcome of children with Inborn errors of metabolism. Thirty one newly diagnosed children with Inborn errors of metabolism over a 1 y period were studied for their relevant clinical, biochemical, diagnosis, treatment and follow-up details. Inborn errors of metabolism accounted for 2% of hospital admissions. Sixty five percent were born to parents of consanguineous marriage. Of the 31 children with Inborn errors of metabolism, 16 (51%) had lysosomal storage disorders, 8 (26%) had disorders of amino acid metabolism, 2 (6%) each had disorders of carbohydrate and bile acid metabolism, 1 (3%) each had disorders of fatty acid oxidation, mitochondrial and peroxisome metabolism. Acrodermatitis dysmetabolica, as a complication was observed in one child and the overall mortality rate in this series was 10%. Lysosomal storage disorders constituted the majority of Inborn errors of metabolism in this series and amino acidopathies/organic acidemias were successfully treated with special formulas.
- Published
- 2019
21. Novel nonsense mutation of the SLC39A4 gene in a family with atypical acrodermatitis enteropathica
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F. Wu, Bin Yang, X. Shi, Y. Zhang, Ping Lu, Mao-Qiang Man, and C. Yang
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Adult ,Administration, Topical ,Treatment outcome ,Nonsense mutation ,Administration, Oral ,Dermatology ,Bioinformatics ,Asian People ,medicine ,Humans ,Cation Transport Proteins ,Gene ,business.industry ,Siblings ,Acrodermatitis ,Acrodermatitis enteropathica ,medicine.disease ,Anti-Bacterial Agents ,Pedigree ,Trace Elements ,Zinc ,Treatment Outcome ,Codon, Nonsense ,Zinc deficiency ,Female ,business - Published
- 2019
22. Impact of Zinc Transport Mechanisms on Embryonic and Brain Development
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Jeremy Willekens and Loren W. Runnels
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Zinc ,Nutrition and Dietetics ,Pregnancy ,Acrodermatitis ,Animals ,Brain ,Female ,Cation Transport Proteins ,Food Science - Abstract
The trace element zinc (Zn) binds to over ten percent of proteins in eukaryotic cells. Zn flexible chemistry allows it to regulate the activity of hundreds of enzymes and influence scores of metabolic processes in cells throughout the body. Deficiency of Zn in humans has a profound effect on development and in adults later in life, particularly in the brain, where Zn deficiency is linked to several neurological disorders. In this review, we will summarize the importance of Zn during development through a description of the outcomes of both genetic and early dietary Zn deficiency, focusing on the pathological consequences on the whole body and brain. The epidemiology and the symptomology of Zn deficiency in humans will be described, including the most studied inherited Zn deficiency disease, Acrodermatitis enteropathica. In addition, we will give an overview of the different forms and animal models of Zn deficiency, as well as the 24 Zn transporters, distributed into two families: the ZIPs and the ZnTs, which control the balance of Zn throughout the body. Lastly, we will describe the TRPM7 ion channel, which was recently shown to contribute to intestinal Zn absorption and has its own significant impact on early embryonic development.
- Published
- 2022
23. Acquired Acrodermatitis Enteropathica
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Kamal Kant Sahu, Ajay Kumar Mishra, Jennifer Sargent, and Anu Anna George
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Acquired acrodermatitis enteropathica ,Adult ,medicine.medical_specialty ,business.industry ,Depression ,Substance-Related Disorders ,Acrodermatitis ,MEDLINE ,General Medicine ,Dermatology ,Hepatitis C ,Zinc ,Pancreatitis, Chronic ,medicine ,Humans ,Female ,business - Published
- 2020
24. No antibody response in acral cutaneous manifestations associated with COVID‐19 ?
- Author
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R. Mahieu, Y. Le Corre, E. Vinatier, Yves Marie Vandamme, Anne Croue, L. Tillard, H. Le Guillou-Guillemette, Pascale Jeannin, ATOMycA (CRCINA-ÉQUIPE 6), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Service des maladies infectieuses et tropicales [CHU Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Hémodynamique, Interaction Fibrose et Invasivité tumorales Hépatiques (HIFIH), Université d'Angers (UA), Innate Immunity and Immunotherapy (CRCINA-ÉQUIPE 7), Laboratoire d'Immunologie [CHU Angers], Département de Pathologie [CHU Angers], LUNAM Université [Nantes Angers Le Mans], Département de dermatologie [CHU Angers], Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), and Bernardo, Elizabeth
- Subjects
Male ,Antibodies, Viral ,Severe Acute Respiratory Syndrome ,Letter to Editor ,law.invention ,Serology ,perniosis ,Cohort Studies ,030207 dermatology & venereal diseases ,0302 clinical medicine ,law ,030212 general & internal medicine ,Polymerase chain reaction ,biology ,medicine.diagnostic_test ,Biopsy, Needle ,Middle Aged ,Prognosis ,Immunohistochemistry ,3. Good health ,acral lesions ,Infectious Diseases ,Female ,Antibody ,Coronavirus Infections ,chilblain ,Adult ,medicine.medical_specialty ,Lichenoid Eruptions ,Coronavirus disease 2019 (COVID-19) ,Pneumonia, Viral ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,Dermatology ,03 medical and health sciences ,[SDV.CAN] Life Sciences [q-bio]/Cancer ,COVID‐19 ,Biopsy ,medicine ,Humans ,cutaneous manifestations Manuscript word count: 598 Figure count: 1 ,Pandemics ,cutaneous manifestations ,business.industry ,Acrodermatitis ,COVID-19 ,medicine.disease ,Reverse transcriptase ,Pneumonia ,biology.protein ,business - Abstract
International audience; Skins symptoms during COVID‐19 have been recently described but their relation to SARS‐CoV‐2 is unclear while results for real‐time reverse transcriptase polymerase chain reaction (rRT‐PCR) testing were variable. Recalcati et al. reported 14 cases of patients with skin symptoms consistent with previous described COVID‐19 lesions but all the patients were tested negative. They asked for a serology to validate the hypothesis that these lesions are related to COVID‐19.
- Published
- 2020
25. Cutaneous borreliosis: An insidious mimicker of patch-type granuloma annulare
- Author
-
Andrea Saggini and Lorenzo Cerroni
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Histology ,Administration, Oral ,Dermatology ,Pathology and Forensic Medicine ,Diagnosis, Differential ,Granuloma Annulare ,Lyme disease ,Borrelia ,medicine ,Humans ,Granuloma annulare ,Aged ,Skin ,Interstitial granulomatous dermatitis ,biology ,business.industry ,Acrodermatitis ,Histiocytes ,Middle Aged ,medicine.disease ,biology.organism_classification ,Anti-Bacterial Agents ,Treatment Outcome ,Immunoglobulin M ,Borrelia burgdorferi ,Doxycycline ,Patch-type granuloma annulare ,Erythema chronicum migrans ,Erythema Chronicum Migrans ,Female ,medicine.symptom ,business ,Borrelia Infections - Published
- 2020
26. [Exanthem and painful leg in a 72-year-old female patient]
- Author
-
S, Macagnino
- Subjects
Venous Thrombosis ,Lyme Disease ,Hyperalgesia ,Acrodermatitis ,Humans ,Neuralgia ,Pain ,Female ,Exanthema ,Thrombophlebitis ,Aged - Abstract
The case of a 72-year-old female patient with exanthem and concomitant neuropathy of the instep of the foot and progressive ipsilateral lower leg pain is reported. Sonographically, a superficial vein thrombosis with extension into the deep venous system originating from the exanthem was observed. On the basis of the clinical picture as well as the serological and electrophysiological findings, a rare diagnosis of acrodermatitis chronica atrophicans with peripheral neuropathy was made, which could significantly promote the local development of venous thrombosis.
- Published
- 2020
27. Acrodermatitis chronica atrophicans by Borrelia afzelii in an unusual geographical zone
- Author
-
Jorge Ocampo-Candiani, Adrian Cuellar-Barboza, A. Moreno-Salinas, Lucio Vera-Cabrera, Jesus Alberto Cardenas-de la Garza, Carmen A. Molina-Torres, R.I. Arvizu-Rivera, Jorge A. Esquivel-Valerio, and Dionicio Ángel Galarza-Delgado
- Subjects
Adult ,medicine.medical_specialty ,Lyme Disease ,biology ,business.industry ,Acrodermatitis ,biology.organism_classification ,Borrelia afzelii ,medicine.disease_cause ,medicine.disease ,Dermatology ,Diagnosis, Differential ,Rheumatology ,Borrelia burgdorferi Group ,Borrelia ,medicine ,Humans ,Pharmacology (medical) ,Female ,business ,Mexico ,Acrodermatitis chronica atrophicans ,Acrodermatitis atrophicans chronica ,Skin - Published
- 2020
28. Treatment of acrodermatitis continua of Hallopeau: A case series of 39 patients
- Author
-
Rotraut Mössner, Marthe-Lisa Schaarschmidt, Andreas Pinter, Daniel Celis, Sietske Poortinga, Sascha Gerdes, Dagmar Wilsmann-Theis, Emilia Loewe, and Christian Kromer
- Subjects
Male ,medicine.medical_specialty ,Dermatology ,Acitretin ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Psoriasis ,Internal medicine ,medicine ,Adalimumab ,Humans ,Prospective Studies ,Retrospective Studies ,business.industry ,Acrodermatitis ,Retrospective cohort study ,General Medicine ,Middle Aged ,medicine.disease ,3. Good health ,Guselkumab ,030220 oncology & carcinogenesis ,Methotrexate ,Secukinumab ,Female ,Dermatologic Agents ,business ,medicine.drug - Abstract
Acrodermatitis continua of Hallopeau (ACH) is a rare chronic inflammatory skin disease. Treatment is extremely challenging and mostly based on empirics as there is only scarce evidence from case reports and few small case series. In this retrospective study, patients with ACH treated at five university medical centers were analyzed according to patient and disease characteristics and treatment experience. We identified 39 patients with ACH with a mean age of 54.4 years at onset, of whom 22 (56.4%) were female. A total of 115 systemic treatment courses were analyzed with methotrexate as the most common therapy (27.0%). Overall, effectiveness of systemic treatments was low (excellent response rate: 14.8%). Among non-biologics, excellent response was noted in 21.1% (4/19) of treatment courses with methotrexate, followed by acitretin (13.3%; 2/15). Among biologics, guselkumab (excellent response: 100%; 2/2), secukinumab (excellent response: 42.9%; 3/7) and adalimumab (excellent response: 20.0%; 2/10) were most efficacious. The median drug survival was 7.0 months and did not differ significantly between the subgroup of non-biologic and biologic therapies. To our knowledge, this is the largest case series in ACH investigating patient characteristics and treatment outcomes. Based on our treatment experience, we suggest a treatment algorithm starting with acitretin or methotrexate as first-line therapy, followed by biologics. Cyclosporin may be used for short-term control. However, none of the applied systemic therapies yielded satisfying efficacy in our cohort. In patients with primary non-response, switch of treatment should be evaluated timely on an individual basis, considering possible irreversible disease complications such as nail loss. More research with prospective design is needed to further evaluate traditional and also particularly newer antipsoriatic drugs in ACH.
- Published
- 2020
29. Lyme borreliosis: diagnosis and management
- Author
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Bart Jan Kullberg, Hedwig D. Vrijmoeth, Joppe W. Hovius, Freek R. van de Schoor, Center of Experimental and Molecular Medicine, Infectious diseases, and AII - Infectious diseases
- Subjects
Male ,medicine.medical_specialty ,medicine.drug_class ,Antibiotics ,Arthritis ,Disease ,Serology ,03 medical and health sciences ,0302 clinical medicine ,Lyme disease ,Borrelia burgdorferi Group ,medicine ,Prevalence ,Humans ,030212 general & internal medicine ,0303 health sciences ,Lyme Disease ,Post-Lyme Disease Syndrome ,030306 microbiology ,business.industry ,Acrodermatitis ,General Medicine ,medicine.disease ,Dermatology ,Pathophysiology ,Anti-Bacterial Agents ,Europe ,lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4] ,North America ,Erythema migrans ,Erythema Chronicum Migrans ,Female ,business ,Acrodermatitis chronica atrophicans - Abstract
Contains fulltext : 220683.pdf (Publisher’s version ) (Closed access) Lyme borreliosis is the most common vectorborne disease in the northern hemisphere. It usually begins with erythema migrans; early disseminated infection particularly causes multiple erythema migrans or neurologic disease, and late manifestations predominantly include arthritis in North America, and acrodermatitis chronica atrophicans (ACA) in Europe. Diagnosis of Lyme borreliosis is based on characteristic clinical signs and symptoms, complemented by serological confirmation of infection once an antibody response has been mounted. Manifestations usually respond to appropriate antibiotic regimens, but the disease can be followed by sequelae, such as immune arthritis or residual damage to affected tissues. A subset of individuals reports persistent symptoms, including fatigue, pain, arthralgia, and neurocognitive symptoms, which in some people are severe enough to fulfil the criteria for post-treatment Lyme disease syndrome. The reported prevalence of such persistent symptoms following antimicrobial treatment varies considerably, and its pathophysiology is unclear. Persistent active infection in humans has not been identified as a cause of this syndrome, and randomized treatment trials have invariably failed to show any benefit of prolonged antibiotic treatment. For prevention of Lyme borreliosis, post-exposure prophylaxis may be indicated in specific cases, and novel vaccine strategies are under development.
- Published
- 2020
30. Acrodermatitis acidaemica
- Author
-
C A, Maguire, H, Chong, R, Ramachandran, J, Popoola, V, Akhras, and M, Singh
- Subjects
Adult ,Diagnosis, Differential ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Biopsy ,030220 oncology & carcinogenesis ,Acrodermatitis ,Humans ,Female ,Dermatology ,Amino Acid Metabolism, Inborn Errors ,Skin - Abstract
Methylmalonic acidaemia (MMA) is an inborn error of amino acid metabolism that may be associated with cutaneous manifestations mimicking other diagnoses, including staphylococcal scalded skin syndrome (SSSS), psoriasis and acrodermatitis enteropathica. Whether this is due to the underlying metabolic disorder itself or occurs as a consequence of dietary restriction has yet to be elucidated. Skin biopsies typically show histological features shared by a number of other metabolic disorders and nutritional deficiency-associated diseases. Some presentations, especially SSSS-like eruptions, may be associated with acute metabolic decompensation. An underlying metabolic disorder, such as MMA, should be considered in a diagnosed adult or undiagnosed child presenting with skin eruptions that resemble those listed above, so that specialist management may be initiated early.
- Published
- 2018
31. Treatment of acrodermatitis continua of hallopeau with ixekizumab
- Author
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Austinn C Miller, Timothy E Holland, and David J Cohen
- Subjects
Adult ,medicine.medical_specialty ,Dermatology ,Antibodies, Monoclonal, Humanized ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Adalimumab ,Humans ,030203 arthritis & rheumatology ,business.industry ,Acrodermatitis ,Interleukin-17 ,Remission Induction ,Pustular psoriasis ,Guideline ,medicine.disease ,High resistance ,Ixekizumab ,Female ,Dermatologic Agents ,business ,medicine.drug - Abstract
Acrodermatitis continua of hallopeau (ACH) is a rare chronic inflammatory variant of pustular psoriasis often restricted to the distal portions the digits in the hands and feet. ACH is of a chronic relapsing nature and is invariably recalcitrant to many available topical and systemic anti-psoriatic therapies. On account of its low prevalence and high resistance to treatments, no clinical guideline of ACH exists. We present a patient with ACH resistant to multiple therapies, including the biologic adalimumab, who was successfully treated with an IL-17 inhibitor (ixekizumab). We believe our unique treatment with an excellent outcome may assist other dermatologists if faced with this condition.
- Published
- 2019
32. Characterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC
- Author
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Ann Katrin Sauer, Simone Hagmeyer, Ann-Kathrin Mattes, Franziska Briel, Laura Tarana, Andreas M. Grabrucker, Stefanie Pfaender, Sébastien Küry, and Tobias M. Boeckers
- Subjects
0301 basic medicine ,Enterocyte ,Acrodermatitis enteropathica ,Induced Pluripotent Stem Cells ,Primary Cell Culture ,chemistry.chemical_element ,Biological Availability ,Zinc ,General Biochemistry, Genetics and Molecular Biology ,Article ,Absorption ,Biomaterials ,03 medical and health sciences ,Mice ,Coordination Complexes ,medicine ,Animals ,Humans ,Gastro-intestinal ,Amino Acids ,chemistry.chemical_classification ,Zip4 ,030109 nutrition & dietetics ,Acrodermatitis ,Metals and Alloys ,Biological Transport ,Cell Differentiation ,medicine.disease ,In vitro ,Amino acid ,Bioavailability ,Mice, Inbred C57BL ,030104 developmental biology ,medicine.anatomical_structure ,Enterocytes ,Biochemistry ,chemistry ,Caco-2 ,Female ,Caco-2 Cells ,General Agricultural and Biological Sciences ,hIPSC ,Carrier Proteins ,Intracellular - Abstract
Zn is essential for growth and development. The bioavailability of Zn is affected by several factors such as other food components. It is therefore of interest, to understand uptake mechanisms of Zn delivering compounds to identify ways to bypass the inhibitory effects of these factors. Here, we studied the effect of Zn amino acid conjugates (ZnAAs) on the bioavailabilty of Zn. We used Caco-2 cells and enterocytes differentiated from human induced pluripotent stem cells from a control and Acrodermatitis enteropathica (AE) patient, and performed fluorescence based assays, protein biochemistry and atomic absorption spectrometry to characterize cellular uptake and absorption of ZnAAs. The results show that ZnAAs are taken up by AA transporters, leading to an intracellular enrichment of Zn mostly uninhibited by Zn uptake antagonists. Enterocytes from AE patients were unable to gain significant Zn through exposure to ZnCl2 but did not show differences with respect to ZnAAs. We conclude that ZnAAs may possess an advantage over classical Zn supplements such as Zn salts, as they may be able to increase bioavailability of Zn, and may be more efficient in patients with AE. Electronic supplementary material The online version of this article (doi:10.1007/s10534-017-0033-y) contains supplementary material, which is available to authorized users.
- Published
- 2017
33. Brief Report: HPV-17 Infection in Darier Disease With Acrokeratosis Verrucosis of Hopf
- Author
-
Andrew Matsumoto, John Andrew Carlson, Neal Gregory, Stephen K. Tyring, and Peter Rady
- Subjects
Acrokeratosis verruciformis ,medicine.medical_specialty ,Pathology ,Adolescent ,Dermatology ,Polymerase Chain Reaction ,Pathology and Forensic Medicine ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Rare Diseases ,0302 clinical medicine ,Darier Disease ,Biopsy ,Humans ,Medicine ,Genetic Predisposition to Disease ,Alleles ,Hypergranulosis ,medicine.diagnostic_test ,business.industry ,Acrodermatitis ,Biopsy, Needle ,Papillomavirus Infections ,HPV infection ,Papule ,General Medicine ,medicine.disease ,Immunohistochemistry ,Acrokeratosis ,030220 oncology & carcinogenesis ,Mutation ,Female ,Histopathology ,medicine.symptom ,business ,Follow-Up Studies - Abstract
The co-existence of Darier disease (DD) and acrokeratosis verruciformis of Hopf (AKV) has been noted for decades and the relationship between the 2 entities remains controversial. Although, it has been shown that both diseases are associated with mutations in ATPA2 gene, it is yet to be determined if they are the same disease, or separate but allelic, or interlinked in some other fashion. Herein, the authors report the case of a 13-year-old girl presenting with shiny flat-topped verruca plana-like papules, on the dorsal hands and feet and red-brown crusted papules on her forehead and along the sides of her neck. Histological evaluation of a wart-like lesion shows features of AKV, a verruca plana-like histopathology and focal acantholytic dyskeratosis. Forehead biopsy also demonstrated focal acantholytic dyskeratosis supporting the diagnosis of DD. Polymerase chain reaction for human papillomavirus (HPV) DNA detected HPV-17, a human betapapillomavirus in the verruca plana-like papule. Cytoplasmic expression of the L1 capsid expression was seen in areas of hypergranulosis. The presence of productive betaPV infection in the setting of DD and AKV suggests a susceptibility to HPV infection.
- Published
- 2017
34. An Acrodermatitis Enteropathica-Associated Zn Transporter, ZIP4, Regulates Human Epidermal Homeostasis
- Author
-
Jinhyuk Bhin, Dae-Kyum Kim, Daehee Hwang, Eun-Gyung Cho, Juyeon Seo, Bum-Ho Bin, Su-Hyon Lee, Toshiyuki Fukada, Haeng-Sun Jung, Tae Ryong Lee, Ai-Young Lee, and Nan-Hyung Kim
- Subjects
Adult ,Keratinocytes ,Male ,0301 basic medicine ,medicine.medical_specialty ,Blotting, Western ,Human skin ,Dermatology ,Biology ,Real-Time Polymerase Chain Reaction ,Biochemistry ,Sampling Studies ,Pathogenesis ,Young Adult ,03 medical and health sciences ,Reference Values ,Internal medicine ,medicine ,Homeostasis ,Humans ,Metallothionein ,RNA, Small Interfering ,Cation Transport Proteins ,Molecular Biology ,Gene ,Cells, Cultured ,Aged ,Gene knockdown ,integumentary system ,Acrodermatitis ,Acrodermatitis enteropathica ,Cell Differentiation ,Cell Biology ,Middle Aged ,medicine.disease ,Cell biology ,Blot ,Zinc ,030104 developmental biology ,Endocrinology ,Gene Expression Regulation ,Female ,Epidermis ,Carrier Proteins - Abstract
Acrodermatitis enteropathica is an autosomal recessive disorder characterized by scaly eczematous dermatosis accompanied by alopecia and diarrhea. Various mutations in the SLC39A4 gene (ZIP4), which encodes a zinc transporter, are responsible for this disorder. However, the molecular mechanism underlying the involvement of ZIP4 in the pathogenesis of this condition has yet to be established. In this study, we report the role of ZIP4 in human epidermis. ZIP4 is predominantly expressed in human keratinocytes, and its expression is dramatically reduced on epidermal differentiation. ZIP4 knockdown in human keratinocytes down-regulates zinc (Zn) levels and the transcriptional activity of a key epidermal Zn-binding protein, ΔNp63, and dysregulates epidermal differentiation in a reconstituted human skin model, resulting in the appearance of proliferating keratinocytes even in the uppermost layers of the skin. We verified that, among the amino acid residues in its Zn-binding motif, Cys205 is critical for the processing and nuclear distribution of ΔNp63 and, therefore, Zn-dependent transcriptional activity. Our results suggest that ZIP4 is essential for maintaining human epidermal homeostasis through the regulation of Zn-dependent ΔNp63 activity and can provide insight into the molecular mechanisms responsible for the cutaneous symptoms observed in Acrodermatitis enteropathica patients.
- Published
- 2017
35. First report ofSLC39A4mutation in acrodermatitis enteropathica family from the Middle East
- Author
-
Andrew G. Messenger, Thomas R. J. Lovewell, Azeddine Ibrahimi, FM Abu-Duhier, Rachid Tazi-Ahnini, and Andrew J. G. McDonagh
- Subjects
Adult ,Male ,Genotype ,DNA Mutational Analysis ,Dermatology ,Middle East ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Humans ,Medicine ,030212 general & internal medicine ,Cation Transport Proteins ,Genetics ,business.industry ,Acrodermatitis ,Acrodermatitis enteropathica ,Infant ,medicine.disease ,Phenotype ,Pedigree ,Zinc ,Mutation ,Mutation (genetic algorithm) ,Zinc deficiency ,Female ,business - Published
- 2017
36. Sustained Need for High-Dose Zinc Supplementation in Children With Acrodermatitis Enteropathica
- Author
-
Jürgen Kohlhase, Cristina Has, Holm Schneider, Johanna Hammersen, Martin Lindner, Rainer Rossi, and Matthias Galiano
- Subjects
Male ,0301 basic medicine ,medicine.medical_specialty ,Biopsy ,Fluorescent Antibody Technique ,chemistry.chemical_element ,Zinc ,030105 genetics & heredity ,Gastroenterology ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,Humans ,ddc:610 ,Skin ,Dose-Response Relationship, Drug ,integumentary system ,medicine.diagnostic_test ,business.industry ,Acrodermatitis ,Acrodermatitis enteropathica ,medicine.disease ,chemistry ,Child, Preschool ,Dietary Supplements ,Pediatrics, Perinatology and Child Health ,Zinc deficiency ,Female ,business - Abstract
In summary, this study shows that AE is an important differential diagnosis of genetic blistering disorders in infants, especially when skin lesions are found periorificially and the onset of symptoms correlates with the introduction of solid foods. Once the diagnosis of AE is established, high-dose zinc supplementation must be retained.
- Published
- 2017
37. European consensus statement on phenotypes of pustular psoriasis
- Author
-
Navarini, A. A., Burden, A. D., Capon, F., Mrowietz, U., Puig, L., Köks, S., Kingo, K., Smith, C., Barker, J. N., Bachelez, Hervé, Chiricozzi, Andrea, Costanzo, Antonio, Eyerich, Kilian, French, Lars E., Ghoreschi, Kamran, Gilliet, Michel, Girolomoni, Giampiero, Gniadecki, Robert, Griffiths, Christopher, Koh, Hong Yi, Lipsker, Dan, Naldi, Luigi, Prans, Ele, Prinz, Jörg, Reich, Kristian, Röcken, Martin, Skov, Lone, Sorin, George, Ståhle, Mona, Stingl, Georg, Van de Kerkhof, Peter, and Warren, Richard
- Subjects
Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,Consensus ,Palmoplantar pustulosis ,Dermatology ,Systemic inflammation ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Infectious Diseases ,Psoriasis ,medicine ,Humans ,Child ,Prospective cohort study ,business.industry ,Acrodermatitis ,medicine.disease ,Pathophysiology ,Europe ,Clinical trial ,Phenotype ,030104 developmental biology ,Generalized pustular psoriasis ,Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5] ,Female ,medicine.symptom ,Settore MED/35 - MALATTIE CUTANEE E VENEREE ,business - Abstract
Item does not contain fulltext Pustular psoriasis (PP) is a group of inflammatory skin conditions characterized by infiltration of neutrophil granulocytes in the epidermis to such an extent that clinically visible sterile pustules develop. Because of clinical co-incidence, PP is currently grouped with psoriasis vulgaris (PV). However, PP and PV are phenotypically different, respond differently to treatments and seem to be distinct on the genetic level. In contrast to PV, the phenotypes of PP are not well defined. Descriptions of each form of PP are discordant among standard dermatology textbooks [Saurat Dermatologie 2016, Rook's Dermatology 2016, Fitzpatrick's 2012 and Braun-Falco 2012], encumbering the collection of phenotypically well-matched groups of patients as well as clinical trials. The European Rare and Severe Psoriasis Expert Network (ERASPEN) was founded to define consensus criteria for diagnosis, deeply phenotype large groups of PP patients, analyse the genetics and pathophysiology and prepare for prospective clinical trials. This work reviews historical aspects of these conditions, new genetic findings and presents our initial considerations on the phenotypes of PP and a consensus classification of clinical phenotypes that will be used as a baseline for further, prospective studies of PP. Generalized pustular psoriasis (GPP) is defined as primary, sterile, macroscopically visible pustules on non-acral skin (excluding cases where pustulation is restricted to psoriatic plaques). GPP can occur with or without systemic inflammation, with or without PV and can either be a relapsing (>1 episode) or persistent (>3 months) condition. Acrodermatitis continua of Hallopeau (ACH) is characterized by primary, persistent (>3 months), sterile, macroscopically visible pustules affecting the nail apparatus. Palmoplantar pustulosis (PPP) has primary, persistent (>3 months), sterile, macroscopically visible pustules on palms and/or soles and can occur with or without PV.
- Published
- 2017
38. Acrodermatitis Continua of Hallopeau with Granuloma-like Vegetation, Osteolysis and IL36RN Mutation
- Author
-
Ting Xiao, Li Qiu, Songbai Li, Song Zheng, and Yumeng Qi
- Subjects
medicine.medical_specialty ,Osteolysis ,Keratolytic ,Hand Dermatoses ,Dermatology ,Acitretin ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Keratolytic Agents ,0302 clinical medicine ,Hand Dermatosis ,medicine ,Humans ,Granuloma ,business.industry ,Interleukins ,Acrodermatitis ,General Medicine ,Middle Aged ,medicine.disease ,030220 oncology & carcinogenesis ,Mutation ,Mutation (genetic algorithm) ,Female ,medicine.symptom ,Vegetation (pathology) ,business ,medicine.drug - Published
- 2017
39. Transient Symptomatic Zinc Deficiency Resembling Acrodermatitis Enteropathica in a Full-Term Breastfed Infant
- Author
-
Yuping Ran, Qin Yang, Sheng Wang, Yongping He, and Sushmita Pradhan
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Acrodermatitis ,Malnutrition ,Acrodermatitis enteropathica ,Infant ,medicine.disease ,Zinc ,Breast Feeding ,Pediatrics, Perinatology and Child Health ,medicine ,Zinc deficiency ,Humans ,Female ,business ,Full Term - Published
- 2020
40. A case-control study on the association of pulse oral poliomyelitis vaccination and Gianotti-Crosti syndrome
- Author
-
Vijay Zawar and Antonio Chuh
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,Referral ,India ,Dermatology ,Poliomyelitis vaccination ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,030212 general & internal medicine ,Solo practice ,business.industry ,Incidence ,Incidence (epidemiology) ,Acrodermatitis ,Vaccination ,Case-control study ,Interrupted Time Series Analysis ,Gianotti–Crosti syndrome ,medicine.disease ,Poliomyelitis ,Case-Control Studies ,Child, Preschool ,Poliovirus Vaccine, Oral ,Female ,business - Abstract
Background Since 1995, the Indian government has been launching two National Immunization Days (NIDs) annually to administer oral polio vaccines (OPVs) to children under the age of 5. Our aim was to investigate the association between OPVs and Gianotti-Crosti syndrome (GCS). Methods A board-certified dermatologist in solo practice conducted the examinations. The patients consulted without the need of a referral. We retrieved files of all children under the age of 5 who were diagnosed with GCS in 18 months. There were three NIDs during these months. We charted the number of children 1 month before, 1 week before, 1 week after, and 1 month after the three NIDs. Results A total of 116 children (49 boys and 67 girls) under the age of 5 with GCS were found (average age: 2.9 years) within these 18 months of three NIDs. Eleven (9.5%) and 105 (90.5%) children developed GCS 1 month before and 1 month following OPV administration, respectively (RR: 1.81; 95% CI: 1.40–2.35; P
- Published
- 2016
41. Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica
- Author
-
Alyson Guy, Soheila Sotoudeh, Sirous Zeinali, John A. McGrath, Ariana Kariminejad, Lu Liu, Patricia A. Lovell, Hassan Vahidnezhad, Jouni Uitto, and Leila Youssefian
- Subjects
medicine.medical_specialty ,Collagen Type VII ,Adolescent ,Biopsy ,Clinical Decision-Making ,Genomics ,Biology ,03 medical and health sciences ,Consanguinity ,Genetics ,medicine ,Effective treatment ,Humans ,Genetic Predisposition to Disease ,Cation Transport Proteins ,Genetics (clinical) ,Alleles ,030304 developmental biology ,Skin Findings ,Skin ,0303 health sciences ,030305 genetics & heredity ,Acrodermatitis enteropathica ,Acrodermatitis ,Genodermatosis ,Disease Management ,High-Throughput Nucleotide Sequencing ,Pathogenicity ,medicine.disease ,Phenotype ,Dermatology ,Pedigree ,Zinc ,Mutation ,Female ,Epidermolysis bullosa ,Epidermolysis Bullosa ,Biomarkers - Abstract
Next-generation sequencing (NGS) is helpful in diagnosing complex genetic disorders and phenotypes, particularly when more than one overlapping condition is present. From a large cohort of 362 families with clinical manifestations of skin and mucosal fragility, referred by several major medical centers, one patient was found by NGS to have two overlapping heritable skin diseases, recessive dystrophic epidermolysis bullosa (RDEB; COL7A1 mutations) and acrodermatitis enteropathica (AE; SLC39A4 mutations). The pathogenicity of the variants was studied at gene expression as well as ultrastructural and tissue levels. Although there is no specific treatment for RDEB except avoiding trauma, supplementation with oral zinc (3 mg·kg-1 ·day-1 ) for the AE resulted in rapid amelioration of the skin findings. This case demonstrates the power of NGS in identifying two genetically unlinked diseases that led to effective treatment with major clinical benefits as an example of genomics-guided treatment.
- Published
- 2019
42. Crusted scabies mimicking an acrodermatitis continua of Hallopeau
- Author
-
María S, Roldán-Franco, Myriam J Yat-Juárez, de Nitsch, and Helga M, Sarti
- Subjects
Diagnosis, Differential ,Desonide ,Scabies ,Ivermectin ,Antiparasitic Agents ,Acrodermatitis ,Anti-Inflammatory Agents ,Animals ,Humans ,Female ,Down Syndrome ,Child ,Sarcoptes scabiei - Abstract
Crusted scabies (CS) is an uncommon, highly contagious, variant of classic scabies. Elevated concentrations of the mite Sarcoptes scabiei var. hominis are found in the skin lesions, which lead to a more exaggerated clinical picture than in classic scabies. This disease is mainly observed in patients with any kind of immunosuppression and relates to Down syndrome.A pediatric female patient with Down syndrome, who presented a crusty white plaque associated with nail dystrophy and subungual hyperkeratosis affecting the distal portion of the fingers is described. Because of these findings, the diagnosis of acrodermatitis continua of Hallopeau was considered. A punch biopsy was performed, attaining the diagnosis of CS. She received systemic treatment with oral ivermectin, topical treatment with emollient cream and desonide 0.1%. Notorious clinical improvement was observed two weeks after finalizing treatment.CS is variant of scabies prevalent in immunocompromised patients and Down syndrome that can be easily confused with inflammatory pathologies with abnormal epidermal keratinization. This case is considered as an atypical presentation of the disease because of local affection of the fingers and nail dystrophy. The histopathological study was necessary to obtain the diagnosis and rule out differential diagnosis.La escabiasis costrosa (EC) es una variante poco común de sarcoptiosis clásica, altamente contagiosa. Las lesiones poseen una elevada concentración del ácaro Sarcoptes scabiei var hominis, lo que conlleva a un cuadro clínico más extenso que en la escabiasis clásica. Se observa principalmente en pacientes con algún tipo de inmunocompromiso y se relaciona con el síndrome de Down.Se describe una paciente pediátrica con síndrome de Down quien presentó placas escamosas que afectaron la porción distal de los dedos, asociadas con distrofia ungueal e hiperqueratosis subungueal, por lo que se consideró acrodermatitis continua de Hallopeau como diagnóstico diferencial. Se realizó una biopsia tipo punch con lo que se llegó al diagnóstico de EC. La paciente recibió tratamiento sistémico con ivermectina vía oral y tratamiento tópico con crema hidratante y desonida al 0.1%. Mostró mejoría clínica notoria dos semanas después de finalizar el tratamiento.La EC es una variante prevalente en pacientes inmunocomprometidos y con síndrome de Down que fácilmente puede confundirse con patologías inflamatorias con alteración de la queratinización epidérmica. Este caso se considera una presentación atípica debido a la afección localizada en los dedos de las manos asociada con distrofia ungueal. El estudio histopatológico fue necesario para realizar el diagnóstico y descartar diagnósticos diferenciales.
- Published
- 2019
43. Viral exanthems in children: A great imitator
- Author
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Lucero Noguera-Morel, Antonio Torrelo, Irene Latour, and Nicole Knöpfel
- Subjects
Male ,medicine.medical_specialty ,Angiomatosis ,Herpesvirus 4, Human ,media_common.quotation_subject ,Dermatology ,Dengue ,Diagnosis, Differential ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Presentation ,Immunocompromised Host ,0302 clinical medicine ,Medicine ,Humans ,Serologic Tests ,Child ,media_common ,Skin ,030203 arthritis & rheumatology ,business.industry ,Clinical Laboratory Techniques ,Acrodermatitis ,Diagnostic test ,Infant ,Zika Virus ,Exanthema ,Child, Preschool ,Chikungunya Fever ,Female ,Differential diagnosis ,business ,Hand, Foot and Mouth Disease - Abstract
Viral exanthems are frequent in children and are mostly self-limited. Early recognition and differentiation from other childhood illnesses are important to direct further investigations and treatment initiation. The clinical presentation of viral exanthems in children includes a polymorphic spectrum of skin eruptions ranging from classic viral exanthems to “atypical” presentations that can mimic nonviral diseases; thus, viral exanthems of childhood can be readily diagnosed on clinical grounds, but not rarely do they represent a diagnostic challenge. In this review, we focus on viral diseases in children that may be difficult to diagnose due to their clinical similarities with nonviral diseases, and we offer clues for the differential diagnosis and proper diagnostic testing in such cases.
- Published
- 2019
44. Biologic therapy for acrodermatitis continua of Hallopeau: Successful treatment with secukinumab and review of the literature
- Author
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Marco Galluzzo, Miriam Teoli, Marina Talamonti, S D'Adamio, and Luca Bianchi
- Subjects
Adult ,medicine.medical_specialty ,Arthritis ,Dermatology ,Antibodies, Monoclonal, Humanized ,030207 dermatology & venereal diseases ,03 medical and health sciences ,acrodermatitis continua of Hallopeau ,psoriasis ,psoriatic arthritis ,secukinumab ,0302 clinical medicine ,Refractory ,Onychodystrophy ,Medicine ,Humans ,Therapeutic Hotline: Short Papers ,Psoriatic erythroderma ,Settore MED/35 - Malattie Cutanee e Veneree ,business.industry ,Acrodermatitis ,Interleukin-17 ,General Medicine ,medicine.disease ,Pustulosis ,Therapeutic Hotline: Short Paper ,030220 oncology & carcinogenesis ,Generalized pustular psoriasis ,Secukinumab ,Female ,medicine.symptom ,business - Abstract
Acrodermatitis continua of Hallopeau (ACH) is a rare pustular psoriasis variant refractory to many conventional treatments. We report the successful treatment with secukinumab of a patient with a long history of ACH with marked onychodystrophy with frank pustulosis on the nail bed and with accompanying arthritis. Blockade of the IL‐17 receptor A has shown promise in the treatment of psoriatic erythroderma and generalized pustular psoriasis not responsive to conventional treatment. A rapid response was observed in our patient, in both skin lesions and arthritic symptoms, underlining the ability of secukinumab to improve symptoms beyond those of plaque psoriasis.
- Published
- 2019
45. Case Report: Paradoxical acrodermatitis of Hallopeau-like eruption following anti-IL-17 therapy
- Author
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Linda Nalotto, Serena Szekely, Francesco Messina, Giulia Tadiotto Cicogna, and Mauro Alaibac
- Subjects
medicine.medical_specialty ,Side effect ,Acrodermatitis continua of Hallopeau ,Case Report ,Pustular Eruption ,General Biochemistry, Genetics and Molecular Biology ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Psoriatic arthritis ,0302 clinical medicine ,Psoriasis ,Medicine ,Humans ,General Pharmacology, Toxicology and Pharmaceutics ,Skin ,030203 arthritis & rheumatology ,General Immunology and Microbiology ,business.industry ,Acrodermatitis ,Arthritis, Psoriatic ,Interleukin-17 ,Onycholysis ,Paradoxical reaction ,Articles ,General Medicine ,psoriasis ,Middle Aged ,medicine.disease ,Dermatology ,paradoxical reaction ,IL-17 ,Female ,Interleukin 17 ,business - Abstract
Psoriasis is a chronic immune-mediated inflammatory disease. Up to 40% of patients with psoriasis may develop psoriatic arthritis. Currently, interleukin (IL)-17/IL-23 pathways are identified as key factors in the immunopathogenesis of both conditions. Here we describe the case of a patient who developed psoriasiform skin lesions 10 months after the initiation of anti-IL17 therapy for psoriatic arthritis. The underlying disease had responded well to the therapy, but the patient developed a striking pustular eruption at the fingers with nail involvement, onycholysis, yellow discoloration, and subungual keratosis. Clinical and histological findings were consistent with an acrodermatitis continua of Hallopeau-like eruption. Skin lesions subsided after discontinuation of the responsible anti-IL17 agent. The interpretation of this paradoxical side effect of biological therapies remains unclear but may relate to an unbalanced inflammatory cytokine response induced by the inhibition of TNF activity. It is likely that patients, who are genetically prone, may respond exaggeratedly to a cytokine imbalance. The identification of this kind of patient, in the future, could be useful in order to choose the correct therapy.
- Published
- 2019
46. Acroangiodermatitis of Mali (Pseudo-Kaposi Sarcoma) Associated with Chronic Venous Insufficiency and Obesity: A Case Report
- Author
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Hani M, Badahdah, Khalid M, Edrees, Lujain, Alnasr, and Enaam, Junainah
- Subjects
Acrodermatitis ,Comorbidity ,Middle Aged ,Skin Diseases, Vascular ,Immunohistochemistry ,Obesity, Morbid ,Debridement ,Venous Insufficiency ,Wheelchairs ,Compression Bandages ,Humans ,Disabled Persons ,Female ,Treatment Failure - Abstract
Acroangiodermatitis, also known as psesudo-Kapsoi sarcoma, is a rare and benign angioproliferative malady. It presents clinically as purple-colored plaques, patches, or nodules resembling Kaposi sarcoma and is often related to chronic venous insufficiency, arteriovenous malformation of the legs, paralyzed limbs, and residual limbs. Obesity is a risk factor for venous insufficiency and could be related to acroangiodermatitis.The authors report a case of acroangiodermatitis of the bilateral legs that was misdiagnosed for 3 years. The diagnosis was confirmed using histopathological and immunohistochemical examinations such as hematoxylin and eosin staining and CD34 immunostaining. Multiple modalities were utilized to treat the wounds, including serial debridement, compression dressings, and silver antimicrobial dressings.It should be stressed that chronic, nonhealing wounds should be biopsied to obtain a proper diagnosis.
- Published
- 2018
47. Gianotti-Crosti syndrome: a challenging exanthema
- Author
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Anaísa Afonso, Teresa Gouveia, Vitor Laerte Pinto Junior, and Joana Cachão
- Subjects
0301 basic medicine ,Epstein-Barr Virus Infections ,Herpesvirus 4, Human ,medicine.medical_specialty ,Adolescent ,Mononucleosis ,Case Report ,Disease ,030105 genetics & heredity ,Virus ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Maculopapular rash ,Humans ,Infectious Mononucleosis ,Child ,business.industry ,Acrodermatitis ,General Medicine ,Gianotti–Crosti syndrome ,Exanthema ,medicine.disease ,Dermatology ,Vaccination ,Female ,medicine.symptom ,Differential diagnosis ,business ,Odynophagia ,030217 neurology & neurosurgery - Abstract
Gianotti-Crosti syndrome (GCS) is a self-limited condition, mainly affecting children younger than 6 years, less common in adolescents and adults. It consists of a viral exanthema with papular lesions with a flat top and symmetrical distribution, affecting predominantly extremities, gluteal region and extensor surfaces. It is often associated with viral infections but can also be related to bacterial infections, vaccination or be idiopathic. In this report, we present a case of GCS in a 13-year-old healthy female adolescent who presented with fever, odynophagia, prostration and diffuse maculopapular rash. The diagnosis of infectious mononucleosis due to infection by the Epstein-Barr virus was established. On the second week of the disease, a clinical recrudescence occurred, with worsening of the fever and modification of the exanthema characteristics. GCS is often an underdiagnosed entity. The differential diagnosis of viral exanthema can prove to be challenging and clinical suspicion is essential to achieve the diagnosis.
- Published
- 2021
48. Inhibition of Progression of Acrodermatitis Continua of Hallopeau With Baricitinib
- Author
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Bin Yang, Guang-Ming Han, and Wan-Shan Yang
- Subjects
Adult ,Sulfonamides ,medicine.medical_specialty ,business.industry ,Baricitinib ,Acrodermatitis ,MEDLINE ,Dermatology ,medicine.disease ,Radiography ,Distal interphalangeal joint ,Purines ,Edema ,medicine ,Azetidines ,Humans ,Pyrazoles ,Female ,medicine.symptom ,business - Published
- 2021
49. A comprehensive clinical and laboratory evaluation of 224 patients with persistent symptoms attributed to presumed tick-bite exposure
- Author
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Bjorn R. Olsen, Lisa Labbé Sandelin, Elisabet Skoog, Kenneth Nilsson, Andreas Mårtensson, Viktor Jones, Marie Edvinsson, Christina Björling, and Ester Fridenström
- Subjects
Male ,Bacterial Diseases ,Physiology ,Infektionsmedicin ,030204 cardiovascular system & hematology ,Pathology and Laboratory Medicine ,Biochemistry ,Nervous System ,Geographical locations ,Serology ,Ticks ,Medical Conditions ,0302 clinical medicine ,Lyme disease ,Quality of life ,Antibiotics ,Immune Physiology ,Medicine and Health Sciences ,Bites and Stings ,030212 general & internal medicine ,Fatigue ,Myositis ,Cerebrospinal Fluid ,Lyme Disease ,Post-Lyme Disease Syndrome ,Immune System Proteins ,Multidisciplinary ,Antimicrobials ,Acrodermatitis ,Drugs ,Public Health, Global Health, Social Medicine and Epidemiology ,Middle Aged ,Clinical Laboratory Sciences ,Body Fluids ,Europe ,Clinical Laboratories ,Infectious Diseases ,Tick-Borne Diseases ,Medicine ,Erythema Chronicum Migrans ,Female ,Anatomy ,medicine.symptom ,Neuroborreliosis ,Research Article ,Adult ,Infectious Medicine ,medicine.medical_specialty ,Science ,Immunology ,Microbiology ,Antibodies ,03 medical and health sciences ,Diagnostic Medicine ,Microbial Control ,Internal medicine ,medicine ,Animals ,Humans ,Lyme Neuroborreliosis ,Medical history ,European Union ,Sweden ,Pharmacology ,Tick Bites ,business.industry ,Biology and Life Sciences ,Proteins ,medicine.disease ,Borrelia Infection ,Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi ,Quality of Life ,Erythema chronicum migrans ,People and places ,business - Abstract
BackgroundPersistent symptoms attributed to presumed tick-bite exposure constitute an unresolved medical controversy. We evaluated whether Swedish adults who met the criteria for post-treatment Lyme disease syndrome (PTLDS) exhibited characteristics distinguishable from adults who did not, but who displayed similar symptoms and disease course after suspected previous tick-bite infection (TBI).Methods and findingsDuring 2015–2018, 255 patients–referred to the Centre for Vector-borne Infections, Uppsala University Hospital, Sweden with symptoms lasting longer than six months–were recruited. Of this group, 224 completed the study. Each patient was examined by an infectious disease specialist and, besides a full medical history, underwent a panel of blood and cerebrospinal fluid laboratory tests including hematological, biochemical, microbiological and immunological analyses, and the RAND-36 scale to measure quality of life. For analysis purposes, patients were divided into five subgroups, of which one represented PTLDS. According to serological results indicating TBI and documented/ reported objective signs of Lyme disease, 85 (38%) patients fulfilled the criteria for PTLDS and were compared with the other 139 (62%) serologically classified patients. In the PTLDS group, erythema chronicum migrans (ECM) was documented/reported in 86% of patients, previous neuroborreliosis in 15%, and acrodermatitis chronica atroficans (ACA) in 3.5%. However, there were no significant differences regarding symptoms, laboratory results or disease course between patients with PTLDS and those without laboratory evidence ofBorreliaexposition. Most reported symptoms were fatigue-related (70%), musculoskeletal (79%), neurological (82%) and neurocognitive (57%). Tick bites were recalled by 74%. The RAND-36 score was significantly below that of the general Swedish population. Signs of immunological/inflammatory reactivity with myositis antibodies were detected in 20% of patients, fibrinogen levels were moderately increased in 21% and elevated rheumatoid factor in 6%.ConclusionsThe PTLDS group did not differ exclusively in any respect from the other subgroups, which either lacked previously documented/reported evidence of borreliosis or even lacked detectable serological signs of exposure to Lyme disease. The results suggest that symptoms often categorized as Chronic-Lyme-Disease (CLD) in the general debate, cannot be uniquely linked to Lyme disease. However, approximately 20% of the total group of patients showed signs of autoimmunity. Further studies are needed to elucidate the underlying causes and mechanisms of PTLDS and there is reason to consider a multifactorial approach.
- Published
- 2021
50. IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases
- Author
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Farida Otsmane, Marine Madrange, Houria Sahel, Asma Smahi, Marie Tauber, Emmanuelle Bourrat, Naima Smahi, Mohamed Makrelouf, Amel Khelil, Khaled Boubridaa, Xue-Yuan Pei, Bakar Bouajar, Hervé Bachelez, Amel Chiali, Manuelle Viguier, Yamina Hamel, Slaheddine Marrakchi, Hamida Turki, Elodie Bal, and Akila Zenati
- Subjects
Adult ,Male ,0301 basic medicine ,Genotype ,Pustular Eruption ,Dermatology ,Gene mutation ,Biology ,Compound heterozygosity ,Risk Assessment ,Biochemistry ,03 medical and health sciences ,Psoriasis ,medicine ,Humans ,Child ,Molecular Biology ,Genetic Association Studies ,Interleukins ,Acrodermatitis ,Wild type ,Cell Biology ,Prognosis ,medicine.disease ,Phenotype ,030104 developmental biology ,Gene Expression Regulation ,Interleukin 36 receptor antagonist ,Child, Preschool ,Mutation ,Immunology ,Disease Progression ,Generalized pustular psoriasis ,Female - Abstract
Homozygous or compound heterozygous IL36RN gene mutations underlie the pathogenesis of psoriasis-related pustular eruptions including generalized pustular psoriasis, palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau, and acute generalized exanthematous pustular eruption. We identified two unreported IL36RN homozygous mutations (c.41C>A/p.Ser14X and c.420_426del/p.Gly141MetfsX29) in patients with familial generalized pustular psoriasis. We analyzed the impact of a spectrum of IL36RN mutations on IL-36 receptor antagonist protein by using site-directed mutagenesis and expression in HEK293T cells. This enabled us to differentiate null mutations with complete absence of IL-36 receptor antagonist (the two previously unreported mutations, c.80T>C/p.Leu27Pro, c.28C>T/p.Arg10X, c.280G>T/p.Glu94X, c.368C>G/p.Thr123Arg, c.368C>T/p.Thr123Met, and c.227C>T/p.Pro76Leu) from mutations with decreased (c.95A>G/p.His32Arg, c.142C>T/p.Arg48Trp, and c.308C>T/p.Ser113Leu) or unchanged (c.304C>T/p.Arg102Trp and c.104A>G/p.Lys35Arg) protein expression. Functional assays measuring the impact of mutations on the capacity to repress IL-36–dependent activation of the NF-κB pathway showed complete functional impairment for null mutations, whereas partial or no impairment was observed for other mutations considered as hypomorphic. Finally, null mutations were associated with severe clinical phenotypes (generalized pustular psoriasis, acute generalized exanthematous pustular eruption), whereas hypomorphic mutations were identified in both localized (palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau) and generalized variants. These results provide a preliminary basis for genotype-phenotype correlation in patients with deficiency of the IL-36Ra (DITRA), and suggest the involvement of other factors in the modulation of clinical expression.
- Published
- 2016
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