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Coronavirus disease-2019 in children has been linked to various clinical presentation, from paucisymptomatic cutaneous eruptions, to multisystemic inflammatory syndrome. We report the case of an 8-year-old boy who presented with persistent fever and pancytopenia, associated to a skin rash. An extensive etiological workup showed a positive serology for severe acute respiratory syndrome coronavirus 2 and Epstein-Barr virus. A few weeks later, type B acute lymphocytic leukemia was diagnosed. This case underlines the polymorphic appearance of coronavirus disease-2019 and the need for critical appraisal., Competing Interests: The authors declare no conflict of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Infantile hemangioma (IH) is the most common vascular tumor in infancy, and its physiopathology is not fully understood. Nevertheless, a hypoxic insult may be an essential element for the formation of an IH. Herein, we describe a case of a 25-week premature newborn who developed an IH after a post-burn scar and its evolution., Competing Interests: The authors declare that they have no conflicts of interest to disclose., (Copyright © 2020 by S. Karger AG, Basel.)

IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome. The present report describes the identification via whole-exome sequencing of three heterozygous mutations in SREBF1 in 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. SREBF1 encodes sterol regulatory element-binding protein 1 (SREBP1), which promotes the transcription of lipogenes involved in the biosynthesis of fatty acids and cholesterols. This process requires cleavage of SREBP1 by site-1-protease (S1P) and S2P and subsequent translocation into the nucleus where it binds to sterol regulatory elements (SRE). The three detected SREBF1 mutations caused substitution or deletion of residues 527, 528, and 530, which are crucial for S1P cleavage. In vitro investigation of SREBP1 variants demonstrated impaired S1P cleavage, which prohibited nuclear translocation of the transcriptionally active form of SREBP1. As a result, SREBP1 variants exhibited significantly lower transcriptional activity compared to the wild-type, as demonstrated via luciferase reporter assay. RNA sequencing of the scalp skin from IFAP-affected individuals revealed a dramatic reduction in transcript levels of low-density lipoprotein receptor (LDLR) and of keratin genes known to be expressed in the outer root sheath of hair follicles. An increased rate of in situ keratinocyte apoptosis, which might contribute to skin hyperkeratosis and hypotrichosis, was also detected in scalp samples from affected individuals. Together with previous research, the present findings suggest that SREBP signaling plays an essential role in epidermal differentiation, skin barrier formation, hair growth, and eye function., (Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Pregnancy can influence the development and progression of congenital arteriovenous malformations (AVM) and thus lead to life-threatening complications for the mother and fetus like high output cardiac failure and premature delivery. The simultaneous presence of a capillary malformation and AVM strongly suggests a RASA1 related disorder. Keywords: Arteriovenous malformations, capillary malformation-arteriovenous malformation, capillaries/abnormalities, port-wine stain, pregnancy, RASA1 protein.

Congenital arteriovenous malformations (AVM) represent a rare clinical entity. They are present at birth but can remain silent for many years. Due to their potential severity and their complex and specific management, the general practitioner should know when to suspect the presence of an AVM. Anatomic and hemodynamic characteristics of these malformations are well analysed by Doppler ultrasound, which is the first-line diagnostic test. MRI is often used in conjunction with ultrasound to better define the location and extension to neighbouring tissues and organs. Embolisation should be restricted to AVM associated with major functional disability, local complications or systemic cardiac complications in case of high flow volume life-threatening lesions., Competing Interests: les auteurs ne déclarent pas de conflit d’intérêts en relation avec cet article.

Isothiazolinone is known to be a sensitizer and a frequent cause of contact dermatitis in adults. Cases of contact dermatitis have also recently been reported in children. Derivatives of isothiazolinone, such as methylisothiazolinone (MI) and methylchloroisothiazolinone (MCI), are commonly used in the care products of babies and children. This allergen should not be missed., (© 2015 Wiley Periodicals, Inc.)

Fucosidosis is a rare lysosomal storage disease. A 14-year-old girl is presented, with recurrent infections, progressive dystonic movement disorder and mental retardation with onset in early childhood. The clinical picture was also marked by mild morphologic features, but absent dysostosis multiplex and organomegaly. MRI images at 6.5 years of age were reminiscent of pallidal iron deposition ("eye-of-the-tiger" sign) seen in neurodegeneration with brain iron accumulation (NBIA) disorders. Progressively spreading angiokeratoma corporis diffusum led to the correct diagnosis. This case extends the scope of clinical and neuroradiological manifestations of fucosidosis., (Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Difficult to control atopic dermatitis (AD) presents a therapeutic challenge and often requires combinations of topical and systemic treatment. Anti-inflammatory treatment of severe AD most commonly includes topical glucocorticosteroids and topical calcineurin antagonists used for exacerbation management and more recently for proactive therapy in selected cases. Topical corticosteroids remain the mainstay of therapy, the topical calcineurin inhibitors tacrolimus and pimecrolimus are preferred in certain locations. Systemic anti-inflammatory treatment is an option for severe refractory cases. Microbial colonization and superinfection contribute to disease exacerbation and thus justify additional antimicrobial / antiseptic treatment. Systemic antihistamines (H1) may relieve pruritus but do not have sufficient effect on eczema. Adjuvant therapy includes UV irradiation preferably of UVA1 wavelength. "Eczema school" educational programs have been proven to be helpful.

Aim: Aplasia cutis congenita (ACC) has been observed after fetal exposure to the antithyroid drug methimazole (MMI), but not reported after propylthiouracil (PTU), the current antithyroid drug of choice during pregnancy. This occurrence has implications for patient information and causal research., Case Report: We describe a surviving term co-twin to a mother with hyperthyroidism exposed to PTU from conception to 34 weeks of gestation presenting with ACC at birth., Discussion: The association between PTU exposure and ACC is clinically relevant and allows speculation on the etiology. A similar mechanism to the classical MMI-induced ACC is postulated, unless a vascular etiology suggested by a vanishing twin or maternal hyperthyroidism itself is causal. Coincidence of PTU exposure and ACC seems unlikely., Conclusion: ACC in a newborn after PTU exposure during pregnancy hitherto observed only after MMI strongly encourages further reports of similar cases that may remain clinically underdiagnosed or unreported. Such confirmation could have significant implications for maternal treatment of hyperthyroidism, common in women of childbearing age.

Background: The diagnosis of atopic dermatitis (AD) is made using evaluated clinical criteria. Management of AD must consider the symptomatic variability of the disease., Methods: EADV eczema task force developed its guideline for atopic dermatitis diagnosis and treatment based on literature review and repeated consenting group discussions., Results and Discussion: Basic therapy relies on hydrating topical treatment and avoidance of specific and unspecific provocation factors. Anti-inflammatory treatment based on topical glucocorticosteroids and topical calcineurin antagonists is used for exacerbation management and more recently for proactive therapy in selected cases. Topical corticosteroids remain the mainstay of therapy, but the topical calcineurin inhibitors, tacrolimus and pimecrolimus are preferred in certain locations. Systemic anti-inflammatory treatment is an option for severe refractory cases. Microbial colonization and superinfection may induce disease exacerbation and can justify additional antimicrobial/antiseptic treatment. Systemic antihistamines (H1) can relieve pruritus, but do not have sufficient effect on eczema. Adjuvant therapy includes UV irradiation preferably of UVA1 wavelength or UVB 311 nm. Dietary recommendations should be specific and given only in diagnosed individual food allergy. Allergen-specific immunotherapy to aeroallergens may be useful in selected cases. Stress-induced exacerbations may make psychosomatic counselling recommendable. 'Eczema school' educational programmes have been proven to be helpful.

Angiomas are heterogenous vascular abnormalities, in terms of anatomy, biology and clinical course. Patients and families are often emotionally concerned. For all these reasons, a multidisciplinary approach is necessary in order to structure diagnostic and therapeutic work-up, and to ensure proper advice. The present paper summarizes contemporary classification of angiomas and presents some principles of multidisciplinary approach as it is applied for the past fifteen years at the University Hospitals of Geneva.

The diagnosis of atopic dermatitis (AD) is made using evaluated clinical criteria. Management of AD must consider the symptomatic variability of the disease. It is based on hydrating topical treatment, and avoidance of specific and unspecific provocation factors. Anti-inflammatory treatment is used for exacerbation management. Topical corticosteroids remain the first choice. Systemic anti-inflammatory treatment should be kept to a minimum, but may be necessary in rare refractory cases. The new topical calcineurin inhibitors (tacrolimus and pimecrolimus) expand the available choices of topical anti-inflammatory treatment. Microbial colonization and superinfection (e.g. with Staphylococcus aureus, Malassezia furfur) can have a role in disease exacerbation and can justify the use of antimicrobials in addition to the anti-inflammatory treatment. Evidence for the efficacy of systemic antihistamines in relieving pruritus is still insufficient, but some patients seem to benefit. Adjuvant therapy includes ultraviolet (UV) irradiation preferably of UVA wavelength; UVB 311 nm has also been used successfully. Dietary recommendations should be specific and only given in diagnosed individual food allergy. Stress-induced exacerbations may make psychosomatic counselling recommendable. 'Eczema school' educational programmes have proved to be helpful.

Bullous pemphigoid (BP) is an autoimmune blistering disorder that may very rarely occur in childhood. We describe a 9-month-old child who developed bullous pemphigoid while she was being treated for presumptive atopic eczema with a homeopathic regimen comprising sulfur, mercury, cantharides, and Rhus (Toxicodendron). She had generalized bullae and a progressive worsening of her general condition with asthenia, dehydration, malnutrition. While the role of homeopathy in triggering the disease remains unclear, our observation attests to the potential life-threatening course of childhood BP in instances where appropriate treatment is withheld.

One of the main problems in the management of congenital nevi is the potential risk for malignant transformation and the resulting need for follow-up examination. Dermoscopy is a noninvasive technique that has been shown to be useful for the follow-up of benign melanocytic skin lesions as well as the early diagnosis of malignant melanoma. Therefore we thought to use the digital dermoscopy (DD) technique for the follow-up of congenital nevi. For documentation purposes we registered an overview, and the following standardized dermoscopic images of every lesion: representative architectural pattern, border of the lesion, and regions of "special interest." In all instances the examination with digital dermoscopy was well tolerated by the patients and the integration of the parents to the "live" examination on the computer screen was appreciated. The follow-up was easy to perform with these standardized documents. We showed the feasibility of follow-up of congenital nevi using digital dermoscopy. Furthermore, we identified three different patterns as well as some typical structures seen in congenital nevi by DD.

Diagnosis of food allergy in children with atopic dermatitis (AD) relies on a good knowledge of the prevalence of the disease and of the foods most frequently involved. Our objective was to define these characteristics in a population-of Swiss children with AD. Patients referred to a pediatric allergist or a dermatologist for AD were routinely tested by skin-prick test (SPT) to seven common food allergens (milk, egg, peanut, wheat, soy, fish, and nuts), and to all other foods suspected by history. Patients with positive SPTs were further evaluated for specific serum immunoglobulin E (IgE) antibodies (by using the CAP System FEIA ). CAP values were interpreted following previously published predictive values for clinical reactivity. Patients with inconclusive results (between the 95% negative predictive value [NPV] and the 95% positive predictive value [PPV]) were challenged with the suspected food. A total of 74 children with AD were screened for food allergies. Negative SPTs excluded the diagnosis in 30 subjects. Nineteen patients were diagnosed by histories suggestive of recent anaphylactic reactions to foods and/or CAP values above the 95% PPV. Forty-three food challenges (35 open challenges and eight double-blind, placebo-controlled in children with persistent lesions of AD despite aggressive topical skin treatment) were performed in patients with positive SPTs but with inconclusive CAP values. Six patients were diagnosed as positive to 15 foods. Challenges were not performed to high-allergenic foods in young children (under 12 months of age for egg and fish, and under 3 years of age for peanuts and nuts). Altogether, 33.8% (25 of 74) of the AD patients were diagnosed with food allergy. The prevalence of food allergy was 27% (seven of 25) in the group referred to the dermatologist for primary care of AD. The foods most frequently incriminated were egg, milk, and peanuts. The prevalence of food allergy in our population was comparable to that in other westernized countries, suggesting an incidence of food allergy in approximately one-third of children with persistent lesions of AD. Together with milk and eggs, peanuts were most frequently involved in allergic reactions.

Linear IgA bullous dermatosis (LABD) comprises a heterogeneous group of subepidermal blistering disorders characterized by in situ bound IgA antibodies in epidermal basement membrane. We report three children presenting clinical and immunopathological features characteristic of LABD. By immunoblotting, the three patients' sera contained IgA antibodies that reacted against the bullous pemphigoid (BP) antigen 180 and or BP230, molecular markers for BP. In addition, IgG antibodies directed against the ectodomain of BP180 were detected by an enzyme-linked immunosorbent assay using a eukaryotic recombinant form of BP180. Consistent with recent studies suggesting that the LABD antigen 1, the predominant autoantigen of LABD, is either a proteolytic product of BP180 or an isoform of the BP180 gene, our findings indicate that a subset of children with features of LABD have a distinct form of BP associated with an IgA response.

In a retrospective study including 84 patients, we assessed precipitating factors of granuloma annulare (GA) and associated pathologies. Fifteen per-cent of the patients reported stress as an important trigger of GA, and in 10 patients (12%) we found an association between GA and diabetes mellitus: 3 latent, 4 type I and 3 type II. Eight of the diabetic patients presented multiple and 5 generalized GA. They suffered significantly more often from chronic relapsing GA than nondiabetic patients.

An isolated affected 19-year-old male with hypohidrotic ectodermal dysplasia (HED) had rare features of the syndrome such as recurrent otitis and multiple sebaceous gland papules of the face. Sebaceous gland hypertrophy is puzzling in the context of HED.

Dermal mucinosis occurred in a 3-month-old and persisted for six years. The features suggest is represents a novel type of childhood mucinosis.

We review the use of corticosteroids in preventing postherpetic neuralgia (PHN) in a retrospective study over 5 years and 10 months. Out of 113 patients evaluable, 46 (40%) had PHN. 21 of these 46 patients (38%) had received prednisone (p = 0.49; n.s.). Duration and intensity of PHN were not different in the prednisone-treated group. This long-term study does not support the use of prednisone for preventing PHN.