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PURPOSE: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging. METHODS: We used a multistep process, beginning with a Delphi method involving global disease experts and subsequently involving non-neurofibromatosis clinical experts, patients, and foundations/patient advocacy groups. RESULTS: We reached consensus on the minimal clinical and genetic criteria for diagnosing NF2 and SWN. These criteria incorporate mosaic forms of these conditions. In addition, we recommend updated nomenclature for these disorders to emphasize their phenotypic overlap and to minimize misdiagnosis with neurofibromatosis type 1. CONCLUSION: The updated criteria for NF2 and SWN incorporate clinical features and genetic testing, with a focus on using molecular data to differentiate the 2 conditions. It is likely that continued refinement of these new criteria will be necessary as investigators study the diagnostic properties of the revised criteria and identify new genes associated with SWN. In the revised nomenclature, the term "neurofibromatosis 2" has been retired to improve diagnostic specificity. ispartof: GENETICS IN MEDICINE vol:24 issue:9 pages:1967-1977 ispartof: location:United States status: published

Resumen Trichophyton benhamiae es un dermatofito zoofílico. Puede causar tinea corporis, tinea faciei y tinea capitis. Se caracteriza por producir lesiones inflamatorias, sobre todo en niños. El objetivo de esta publicación es describir 7 casos clínicos de pacientes pediátricos atendidos entre julio del 2019 y enero del 2020 en nuestra institución. A los pacientes se les solicitó estudio micológico convencional, con posterior confirmación con MALDI-TOF MS y secuencia-ción del ADN ribosomal. Se aisló e identificó T. benhamiae como agente etiológico; el nexo epidemiológico fue el contacto con cobayos. Estas son las primeras descripciones de infecciones causadas por T. benhamiae en Argentina. Al realizar estudios micológicos convencionales, este agente puede confundirse con otros dermatofitos, por lo tanto, se requieren herramientas como MALDI-TOF MS o la secuenciación para llegar a un diagnóstico definitivo. Es importante contar con datos epidemiológicos, como el contacto con mascotas no tradicionales, para una presunción diagnóstica adecuada.

CARD14-associated papulosquamous eruption (CAPE) is a proposed term that encompasses features ranging from psoriasis to pityriasis rubra pilaris (PRP) in association with CARD14 mutations. The early onset of the disease, prominent facial involvement, family history of an autosomal dominant trait, and poor response to conventional treatment are characteristics of CAPE that distinguish it from classical psoriasis and PRP. We describe the clinical features, family history, and response to therapy in three unrelated children with CAPE and compare these characteristics with those of previously described pediatric patients. Testing for CARD14 mutations in children with early onset of features of psoriasis or pityriasis rubra pilaris and resistance to conventional therapy should be considered.

El prurigo agudo es una patología sumamente frecuente y con múltiples etiologías, entre las cuales se encuentran los ácaros de las aves. La incidencia de esta dermatosis ha aumentado en el último tiempo. Existen diferentes parásitos que colonizan las aves y que, al tener contacto con el ser humano, generan lesiones papulosas de tipo prurigo. El agente causal más involucrado es Dermanyssus gallinae, no siempre hallado en el momento del examen físico. Se presenta el caso de una mujer con lesiones papulosas en el tronco y las extremidades, iniciadas luego del contacto con detritos de palomas.

Las reacciones psoriasiformes paradójicas son consecuencia del uso prolongado y cada vez mayor de los distintos tratamientos biológicos; tal es el caso de los anti-TNF-alfa. Las reacciones paradójicas consisten en la exacerbación o en la aparición de un nuevo síntoma o de otra enfermedad que, por lo general, mejoran con el empleo de agentes biológicos como los anti-TNF-alfa. Estos fármacos presentan múltiples indicaciones en relación con distintas enfermedades inflamatorias; por lo tanto, es de suma relevancia que todos los especialistas que los utilizan estén al tanto de dicha entidad. El propósito de este trabajo fue observar y describir las características demográficas y clínicas de un grupo de pacientes con psoriasis paradójica y compararlas con las publicadas en la literatura.

espanolLa gonorrea es una enfermedad de transmision sexual, que en la mayoria de los casos genera afectacion mucosa. En un bajo porcentaje, genera un cuadro que se conoce como infeccion gonococica diseminada. Su dificultad al momento del diagnostico se debe a la baja sensibilidad de los metodos complementarios y a su camaleonica presentacion clinica. Puede confundirse con distintas entidades, como sifilis, VIH, parvovirus B19 y enfermedades autoinflamatorias. Es importante tener en cuenta a la hora de realizar el tratamiento utilizar un esquema doble, con cobertura de germenes intracelulares como Chlamydia, ya que hasta en un 30% de los casos existe la confeccion por ambos germenes. Se decide presentar un caso clinico, que nos presento un desafio diagnostico por su heterogeneidad clinica, planteandonos multiples diagnosticos diferenciales hasta arribar al diagnostico de certeza. Por este motivo, creemos que es importante considerar a la infeccion gonococica diseminada como un diagnostico probable frente a casos clinicos de caracteristicas similares. EnglishGonorrhea is a sexually transmitted disease, which in most cases causes mucosal involvement. In a low percentage, it generates a picture known as disseminated gonococcal infection. Its difficulty at the time of diagnosis is due to the low sensitivity of the complementary methods and its chameleonic clinical presentation. It can be confused with different entities, such as syphilis, HIV, parvovirus B19 and autoinflammatory diseases. It is important to take into account when carrying out the treatment use a double scheme, with coverage of intracellular germs such as Chlamydia since up to 30% of cases there is preparation for both germs. It was decided to present a clinical case, which presented a diagnostic challenge due to its clinical heterogeneity, posing multiple differential diagnoses until arriving at the diagnosis of certainty. For this reason, we believe that it is important to consider disseminated gonococcal infection as a probable diagnosis in the face of clinical cases with similar characteristics.

IMPORTANCE: Ichthyoses are clinically and genetically heterogeneous disorders characterized by scaly skin. Despite decades of investigation identifying pathogenic variants in more than 50 genes, clear genotype-phenotype associations have been difficult to establish. OBJECTIVE: To expand the genotypic and phenotypic spectra of ichthyosis and delineate genotype-phenotype associations. DESIGN, SETTING, AND PARTICIPANTS: This cohort study recruited an international group of individuals with ichthyosis and describes characteristic and distinguishing features of common genotypes, including genotype-phenotype associations, during a 10-year period from June 2011 to July 2021. Participants of all ages, races, and ethnicities were included and were enrolled worldwide from referral centers and patient advocacy groups. A questionnaire to assess clinical manifestations was completed by those with a genetic diagnosis. MAIN OUTCOMES AND MEASURES: Genetic analysis of saliva or blood DNA, a phenotyping questionnaire, and standardized clinical photographs. Descriptive statistics, such as frequency counts, were used to describe the cases in the cohort. Fisher exact tests identified significant genotype-phenotype associations. RESULTS: Results were reported for 1000 unrelated individuals enrolled from around the world (mean [SD] age, 50.0 [34.0] years; 524 [52.4%] were female, 427 [42.7%] were male, and 49 [4.9%] were not classified); 75% were from the US, 12% from Latin America, 4% from Canada, 3% from Europe, 3% from Asia, 2% from Africa, 1% from the Middle East, and 1% from Australia and New Zealand. A total of 266 novel disease-associated variants in 32 genes were identified among 869 kindreds. Of these, 241 (91%) pathogenic variants were found through multiplex amplicon sequencing and 25 (9%) through exome sequencing. Among the 869 participants with a genetic diagnosis, 304 participants (35%) completed the phenotyping questionnaire. Analysis of clinical manifestations in these 304 individuals revealed that pruritus, hypohydrosis, skin pain, eye problems, skin odor, and skin infections were the most prevalent self-reported features. Genotype-phenotype association analysis revealed that the presence of a collodion membrane at birth (odds ratio [OR], 6.7; 95% CI, 3.0-16.7; P

Dermatological emergencies are a frequent reason for emergency departments consultation. In order to determine the prevalence of dermatological emergencies, to describe the kind of dermatological diseases that present as emergencies, to analyze the coincidence between the diagnoses received by the patients in those cases with a previous consultations for the same cutaneous manifestation, and to analyze the behavior according to the health system segment in which they were attended: public segment and private segment; a prospective, observational, analytical, cross-sectional and multi-center study was carried out. Two thousand eight hundred one patients were included. The prevalence of consultations for dermatological emergencies in adults was 15% in the same time period (public segment: 10.6 and private segment: 22.5%, p0.05). The consultation was due to an infectious disease in 35.5%, allergic in 29.6% and neoplastic in 8.6%; 0.7% of patients were hospitalized. In 31.7% of patients who had a previous consultation, a coincidence was found between the diagnoses made in 80.7% of those attended by a dermatologist, and 52.6% evaluated by non-dermatologist physician. The high prevalence of dermatological consultations and the existing differences in the probability of receiving an appropriate diagnosis according to the specialization of the intervening professional, show the importance of the presence of dermatology-trained physicians in the emergency area.Las urgencias dermatológicas constituyen un motivo de consulta frecuente en los departamentos de urgencias. Con el objetivo de determinar la prevalencia de las consultas por urgencias dermatológicas, describir las mismas, analizar la coincidencia entre los diagnósticos recibidos por los pacientes, en los casos que realizaron dos consultas por el mismo cuadro, y analizar el comportamiento de las variables de acuerdo al subsector del sistema de salud en el cual fueron atendidos: subsector público, y subsector privado, se realizó un estudio prospectivo, observacional, analítico, de corte transversal y multicéntrico. Se incluyeron 2801 pacientes. La prevalencia de las consultas por urgencias dermatológicas en adultos fue de 15% en el mismo período horario (subsector público: 10.6% y subsector privado: 22.5%, p0.05). Motivó la consulta una enfermedad infecciosa en el 35.5%, alérgica en el 29.6% y neoplásica en el 8.6%. Se hospitalizó el 0.7% de los pacientes. El 31.7% de los pacientes había realizado consultas previas. En estos casos se encontró coincidencia entre los diagnósticos realizados en el 80.7% de los atendidos de forma precedente por un médico dermatólogo, y el 52.6% de los evaluados por médicos no dermatólogos. La alta prevalencia de las consultas por urgencias dermatológicas y las diferencias existentes en la probabilidad de recibir un diagnóstico apropiado de acuerdo con la especialización del profesional interviniente, muestran la importancia de la presencia de un médico con formación en dermatología en el área de urgencias.

Parvovirus B19 is a DNA virus of the Parvoviridae family. We present four children with unusual exanthems associated with parvovirus infection: a purpuric periflexural pattern, a purpuric vasculitic pattern, and a combination of the two.

Methotrexate is an antimetabolite analog to folic acid that competitively inhibits the enzyme dihydrofolate reductase and thymidylate synthetase, essential for the synthesis of DNA and RNA. It is widely used in dermatology and its adverse effects on the skin and mucous membranes are varied, including mild and severe reactions. The appearance of erosions and skin ulcers as a manifestation of methotrexate cytotoxicity are quite infrequent. These would represent an early cutaneous sign of pancytopenia due to marrow toxicity secondary to this drug. In most of the cases there are cutaneous diseases prior to ulceration, mainly psoriasis. In the absence of underlying dermatitis, the presence of ulcerations is very rare. We present eight cases of patients with cutaneous signs of methotrexate poisoning, with and without previous dermatoses. Most of them associated mucositis and bone marrow involvement. Treatment guidelines are recommended.

Congenital candidiasis infection often presents as a skin rash with variable involvement of nails and mucous membranes. Isolated nail involvement is rare, may present late, and can often be managed with topical antifungal medication. We report a case of congenital candidiasis limited to the fingernails that resolved completely within 3 months with topical treatment.

Psoriasis is a chronic, multifactorial inflammatory disease; its clinical severity can vary widely. Treatment of severe cases during pregnancy is of special interest. To date there is scarce information available and most data comes from other medical specialties that use similar treatments. Immunosuppressors are strongly discouraged during pregnancy and breastfeeding. Amongst biologic agents, anti-TNFα having been the longest on the market has allowed for the most experience. It is known that transplacental transport of these drugs does not occur until gestational week 22, once organogenesis is completed. Within this group certolizumab pegol, seems to be the safest choice, as its molecular structure does not cross the placental barrier. Beyond pregnancy, it is important to take into account these drugs' half-life and passage to breast milk, as well as its impact on neonatal immunization.

Isolated angiokeratomas (AKs) are common cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse AKs should alert the physician to a possible diagnosis of Fabry disease (FD). Angiokeratomas often do not appear until adolescence or young adulthood. The number of lesions and the extension over the body increase progressively with time, so that generalization and mucosal involvement are frequent. Although rare, FD remains an important diagnosis to consider in patients with AKs, with or without familial history. Dermatologists must have a high index of suspicion, especially when skin features are associated with other earlier symptoms such as acroparesthesia, hypohidrosis, or heat intolerance. Once the diagnosis is established, prompt screening of family members should be performed. In all cases, a multidisciplinary team is necessary for the long-term follow-up and treatment.

Erythrosis pigmentosa peribuccalis is an infrequent condition, with fewer than 35 cases reported in the literature, that affects mainly women. It presents as small papules that form a hyperpigmented plaque around the mouth and nose. Little is known about the etiology of this condition, its dermoscopic characteristics have not been described, and no effective treatment has been reported. We report a 15-year-old girl with this rare dermatosis who was successfully managed with daily calcipotriol, weekly topical ivermectin, and strict photoprotection. We also describe for the first time the dermoscopic findings of this entity.

SUMMARY Most monogenic disorders have a primary clinical presentation. Inherited ISG15 deficiency, however, has manifested with two distinct presentations to date: susceptibility to mycobacterial disease and intracranial calcifications from hypomorphic interferon-II (IFN-II) production and excessive IFN-I response, respectively. Accordingly, these patients were managed for their infectious and neurologic complications. Herein, we describe five new patients with six novel ISG15 mutations presenting with skin lesions who were managed for dermatologic disease. Cellularly, we denote striking specificity to the IFN-I response, which was previously assumed to be universal. In peripheral blood, myeloid cells display the most robust IFN-I signatures. In the affected skin, IFN-I signaling is observed in the keratinocytes of the epidermis, endothelia, and the monocytes and macrophages of the dermis. These findings define the specific cells causing circulating and dermatologic inflammation and expand the clinical spectrum of ISG15 deficiency to dermatologic presentations as a third phenotype co-dominant to the infectious and neurologic manifestations., In Brief Martin-Fernandez et al. report on five patients with inherited ISG15 deficiency, a recently discovered syndrome of type I IFN autoinflammation and mycobacterial susceptibility. This study defines an expanded clinical spectrum that now includes dermatologic disease and pinpoints the specific cell types driving inflammation., Graphical Abstract

Aplasia cutis congenita (ACC), or congenital absence of skin, is a heterogeneous condition that may be due to varied mechanisms. ACC has rarely been reported in association with fetus papyraceus, representing a peculiar phenotype of ACC. We present six new cases of neonates born with symmetric ACC associated with intrauterine fetal demise of co-twins during the late first or early second trimester.

Onychomadesis is the spontaneous, complete shedding of the nail from its proximal side, without pain or inflammation, following nail matrix arrest. This disorder is uncommon in children and it can occur in fingernails, toenails or both. It may be secondary to systemic disorders, Kawasaki disease, bullous dermatoses, drugs, paronychia, stress and radiotherapy. Since 2000, Hand, Foot, and Mouth Disease (HFMD) has been described as a cause of onychomadesis, and has been associated with outbreaks of this condition in different regions of the world. HFMD is an infection characterized by vesicular and erosive stomatitis in combination with a vesicular eruption in palms and soles. It occurs in small children during summer and autumn months, and it is caused by coxsackie virus. We present a study that reflects the current situation of onychomadesis in Argentinian children and shows a strong association between this disorder and HFMD, suggesting that onychomadesis is a new manifestation of a previously known disease.

Inflammatory breast cancer is an aggressive and infiltrative malignancy that is often misdiagnosed as an infection because of its symptoms and signs of inflammation, delaying proper diagnosis and treatment. We report a case of inflammatory breast cancer showing correlation between dermoscopic and histopathological diagnoses. We highlight the utility of dermoscopy for skin biopsy site selection.

Background: Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineuraldeafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2gene. Mutations in Argentinean patients have not been described.Case presentation: We studied a 2 year-old boy with bilateral congenital sensorineural deafness with dry skin over theentire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealedthe substitution of guanine-148 by adenine predicted to result in an Asp50Asn amino acid substitution.Conclusion: This is the first KID report in a patient from Argentina. This de novo mutation proved to be the cause ofkeratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina Fil: Buonfiglio, Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina Fil: Larralde, Margarita. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Hospital Alemán; Argentina Fil: Craig, Patricio Oliver. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas "Prof. Alejandro C. Paladini". Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Instituto de Química y Físico-Química Biológicas; Argentina Fil: Lotersztein, Vanesa. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Choate, Keith. University of Yale; Estados Unidos Fil: Pallares, Norma. Instituto Superior de Implantes Cocleares “Dr. Vicente Diamante”; Argentina Fil: Diamante, Vicente. Instituto Superior de Implantes Cocleares “Dr. Vicente Diamante”; Argentina Fil: Elgoyhen, Ana Belen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina

Background/Objective Papular epidermal nevus with skyline basal cell layer (PENS) is a recently described type of epidermal nevus with characteristic histopathologic findings, mainly regular, rectangular acanthosis and a well-demarcated basal cell layer with clear palisading and separation between basal cell nuclei and the first row of Malpighian cell nuclei. Although the first reports described randomly distributed lesions appearing sporadically in otherwise healthy patients, cases of Blaschkoid distribution, lesions associated with extracutaneous manifestations, and familial cases have been reported. Methods We performed a review of the clinical charts of all patients with histologic diagnosis of PENS in our hospital. We evaluated epidemiologic, clinical, and histologic features. We then reviewed the literature with a particular emphasis on the presence or absence of extra-cutaneous associations. Results Three patients with PENS are described. One had a single lesion, one had three lesions, and one, a patient with mild developmental delay, a curved penis, and hypospadias, had multiple lesions. Conclusion The probability of having extracutaneous manifestations is 6.3 times as great in individuals with more than four lesions. Therefore these patients may need closer follow-up.

Pancreatic panniculitis is an uncommon condition that can occur in association with pancreatic disease. Most of the cases reported to date were associated with acute or chronic pancreatitis and pancreas cancer. Recently, development has been described in kidney transplant patients and secondarily to allograft pancreatitis in a pancreas-kidney transplant recipient. Both findings suggest that immunological processes may be involved in the pathogenesis of this entity. We report for the first time a case of acute pancreatitis associated with pancreatic panniculitis in a patient who underwent a liver transplant 10 months before. A 69-year-old man with a history of epigastric pain of a few days of evolution was presented with painful subcutaneous nodules on both legs. Blood chemistry showed raised serum amylase and lipase levels. Ultrasonography and multislice CT scan were suggestive of an acute pancreatitis. A skin biopsy showed typical features of pancreatic panniculitis which included lobular panniculitis with lipocyte degeneration with ghost cells. The administration of octreotide resulted in both a rapid improvement of symptoms and a disappearance of skin lesions. Liver transplant specialists should be aware that the pancreatic panniculitis could be a manifestation ofpancreas disease in patients who have undergone l ver transplantation.

Propranolol has been used successfully in a limited number of children with infantile hemangiomas. This multicenter retrospective study describes the efficacy and adverse effects of propranolol in infantile hemangioma. Seventy-one infants with infantile hemangiomas were treated with oral propranolol, 1 mg/kg/12 hours, for at least 12 weeks. A photograph based severity scoring assessment was performed by five observers to evaluate efficacy, utilizing a scoring system of 10 as the original infantile hemangioma before treatment and 0 as completely normal skin. The mean of the five independent measurements was used in the analysis. Propranolol was a rapid and effective treatment for infantile hemangiomas at 4 weeks (p < 0.001), at 8 weeks (p < 0.001 compared to the 4 wks value), at 12 weeks (p < 0.05 compared to the 8 wks value), and thereafter up to 32 weeks (p < 0.01 compared to the 16 wks value). The response of infantile hemangiomas to propranolol was similar regardless of sex, age at onset of treatment, type of involvement (segmental and nonsegmental), facial segments affected, special locations (eyelid, nasal tip, and parotid region), ulceration, and depth of infantile hemangiomas. Very few side effects were reported; mainly agitated sleep in 10 of 71 patients. In the series of patients in this study, oral propranolol 2 mg/kg/day was a well-tolerated and effective treatment for infantile hemangiomas. Prospective studies are needed to establish the exact role of propranolol in the treatment of infantile hemangiomas.

A new type of organoid epidermal nevus, characterized by the presence of multiple trichilemmal cysts disposed in a linear arrangement, was recently recognized and named nevus trichilemmocysticus. We report a 10-year-old girl with a congenital linear dermatosis affecting the head, neck, trunk, limbs, palms, and soles. Initially, the lesions that followed the lines of Blaschko consisted of yellowish plaques covered by verrucous papules and filiform hyperkeratoses. Additionally, since the age of 6 years, numerous cyst-like structures developed on the linear lesions involving the limbs. On histopathological examination, all of the excised cystic lesions were found to be trichilemmal cysts. Hence, we herein describe a new case of nevus trichilemmocysticus.

Infantile myofibromatosis is a rare fibrous tumor of infancy that can be solitary or multiple. Although most of the cases are limited to the skin, in some instances systemic involvement can be present. Solitary tumors limited to the skin usually present a good prognosis with spontaneous regression. We performed a retrospective observational review of the clinical and pathologic characteristics of nine patients diagnosed as having infantile myofibromatosis, followed during a 10-year period in a Pediatric Dermatology Department.

A doença de Fabry é enfermidade de armazenamento lisossômico rara, ligada ao cromossomo-X, causada pela deficiência parcial ou completa da enzima alfagalactosidase A. O defeito resulta no acúmulo de globotriaosilceramida no endotélio vascular e tecidos viscerais, sendo a pele, o coração, os rins e o sistema nervoso central os mais afetados. As autoras realizam revisão da literatura relacionada a essa afecção e ressaltam que o reconhecimento precoce dos angioqueratomas e da hipoidrose constitui sinal-chave no diagnóstico dessa doença grave. Destacam também a necessidade de esses doentes serem avaliados por equipe multidisciplinar. Fabry disease is an uncommon, X-linked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme a-galactosidase A. The defect leads to accumulation of uncleaved globotriaosylceramide on the vascular endothelium and visceral tissues, being the skin, heart, kidneys and central nervous system the most affected organs. We performed review of the literature related to the disease and emphasized that early recognition of angiokeratomas and hypohidrosis are key diagnostic signs of this serious disease. We also addressed the need of multidisciplinary assessment of these patients.