Idiopathic aseptic facial granuloma: A retrospective study of 43 cases.

BACKGROUND: Idiopathic aseptic facial granuloma (IAFG) is an underrecognized pediatric skin disease, currently considered within the spectrum of rosacea. It usually manifests as a solitary, reddish, asymptomatic nodule on the cheek that resolves spontaneously. METHODS: Retrospective and descriptive observational study of 43 pediatric patients with a clinical diagnosis of IAFG, followed between 2004 and 2022, at two general hospitals in Argentina. RESULTS: IAFG predominated in girls (65%) and the average age of onset was about 6 years. A single asymptomatic nodule was seen in 79% of patients. The most common localization was the cheek (58%) followed by lower eyelids (41%). Family history of rosacea was present in 16% of patients. A concomitant diagnosis of rosacea and periorificial dermatitis was made in 14% and 9% of our population, respectively. Past or present history of chalazia was detected in 42% of the children. IAFG diagnosis was mainly clinical (88% of cases). Oral antibiotics were the most common indicated treatment (84%). Complete healing was achieved by the majority, but 18% of those with eyelid compromise healed with scars. CONCLUSIONS: IAFG is a benign pediatric condition that physicians should recognize in order to manage correctly. We herein refer to a particular morphologic aspect of IAFG lesions affecting the lower eyelids, where nodules adopt a linear distribution and have a higher probability of involute leaving a scar. Also, we consider that the concomitant findings of rosacea, periorificial dermatitis and chalazia in our patients, reinforce the consideration of IAFG within the spectrum of rosacea.

Happle-Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum: Report of three cases.

Happle-Tinschert syndrome is a rare genodermatosis caused by a postzygotic mutation in SMO gene. The most recognized clinical findings include segmentally arranged basaloid follicular hamartomas, nevoid hypertrichosis, linear atrophoderma, and hypopigmentation or hyperpigmentation following Blaschko lines associated with osseous, dental, and cerebral alterations. We report three additional cases, two of which lacked the pathognomonic basaloid follicular hamartomas, with genetic confirmation and detailed clinical characterization and describe new cutaneous features of this infrequent syndrome.

[Trichophyton benhamiae, an emergent zoonotic pathogen in Argentina associated with Guinea pigs: Description of 7cases in Buenos Aires]. / Trichophyton benhamiae, un dermatofito zoofílico emergente en Argentina con reservorio en cobayos: descripción de 7 casos en un hospital de la Ciudad Autónoma de Buenos Aires.

Trichophyton benhamiae is a zoonotic dermatophyte that can cause tinea corporis, tinea faciei and tinea capitis, producing inflammatory lesions, especially in children. In this publication, we describe 7clinical cases of pediatric patients that occurred in our institution between July 2019 and January 2020. All patients underwent a conventional mycological study. The identification of fungi isolates was confirmed by MALDI-TOF MS and sequencing of the ribosomal DNA. T. benhamiae was identified as the etiological agent, whose epidemiological link in all cases was the contact with Guinea pigs. This is the first description of infections caused by T. benhamiae in Argentina. This dermatophyte can be misidentified as other more frequent dermatophytes when performing conventional studies. Molecular technology should be used to reach a definitive diagnosis. It is important to have epidemiological data from patients such as contact with non-traditional pets, especially Guinea pigs, for an adequate presumptive diagnosis of this dermatophytosis.

CARD14-associated papulosquamous eruption (CAPE) in pediatric patients: Three additional cases and review of the literature.

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.

Onychodystrophy as the only sign of congenital candidiasis.

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 and pregnancy in the biologic era, a feared scenario. What do we do now?

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.

CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.

BACKGROUND: Heterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis rubra pilaris (PRP). Many subjects with CARD14 mutations display features of both disorders, which can result in diagnostic uncertainty. In addition, these eruptions are often recalcitrant to conventional psoriasis therapies such as methotrexate, oral retinoids, and tumor necrosis factor-α inhibitors. OBJECTIVE: We sought to describe the clinical characteristics, family history, and response to therapy in subjects with papulosquamous eruptions due to mutations in CARD14. METHODS: Subjects were referred for genetic testing as part of a registry of subjects with inherited disorders of keratinization. DNA was isolated from blood or saliva, and multiplex targeted sequencing or whole exome sequencing was performed. Clinical histories of subjects with CARD14 mutations were reviewed. RESULTS: We identified 15 kindreds with CARD14-associated papulosquamous eruption (CAPE). Characteristic features of CAPE include early age of onset; prominent involvement of the cheeks, chin, and ears; family history of psoriasis or PRP; minimal response to conventional topical and systemic psoriasis therapies; and improvement with ustekinumab. LIMITATIONS: Relatively small sample size. CONCLUSIONS: Many subjects with CARD14 mutations display characteristics of both psoriasis and PRP. We propose the term CARD14-associated papulosquamous eruption to describe this spectrum of disease. Subjects with clinical features suggestive of CAPE should undergo CARD14 sequencing and may benefit from treatment with ustekinumab.

Unusual skin manifestations associated with parvovirus B19 primary infection in children.

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.

[4pp Mucocutaneous manifestations of methotrexate toxicity]. / Manifestaciones mucocutáneas de intoxicación por metotrexato.

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.

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

BACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. 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 the entire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealed the 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 of keratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice.

Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature.

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.

Erythrosis Pigmentosa Peribuccalis in an Adolescent: Dermoscopic Description and Management.

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.

Expression of WT-1 by the vascular component of acral pseudolymphomatous angiokeratoma of children.

Acral pseudolymphomatous angiokeratoma of children (APACHE) is a disease comprised by a dense dermal infiltrate of B-lymphocytes and T-lymphocytes in which prominent blood vessels with plump endothelium are found. In the past, the lesion was interpreted as a variant of angiokeratoma, a vascular malformation, or a nevus. Currently, most authors consider it to be a type of pseudolymphoma with prominent blood vessels. The latter express CD34 and D2-40, while they lack the expression of Glut-1. The expression of Wilms tumor-1 (WT-1) by APACHE has not yet been studied. In this report, we present a case of APACHE on the right foot of a 4-year-old boy and demonstrate immunoexpression of WT-1 by the blood vessels of the lesion. We also performed serial sections and demonstrated that the WT-1+ vessels with prominent endothelium were D2-40-.

Nevus comedonicus: a case series.

Twelve previously unreported cases of nevus comedonicus are presented. Characteristic closely grouped dilated follicular openings with horny plugs that mimic comedones led to the diagnosis. One patient had nevus comedonicus syndrome and there were cases with atypical locations and unusual complications of this condition. We also highlight clinical associations and therapeutic options.

Aplasia Cutis Congenita Associated with Fetus Papyraceus.

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.

Infantile perianal protrusion.

Infantile perianal protrusion is characterized by a skin fold located in the perianal area. It is a relatively recent reported condition and affects both infants and prepubertal children with a clear female predominance. Three types are recognized: constitutional/congenital, acquired, and associated with lichen sclerosus et atrophicus. We report eleven new cases, three of whom have the defect in locations that have been reported only once before. We would like to increase the awareness of this condition to avoid erroneous diagnostic and therapeutic procedures.

An unreported case of pancreatic panniculitis in a liver transplant patient.

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.

Tinea capitis caused by Trichophyton tonsurans: An emerging disease in Argentina. / Tinea capitis por Trichophyton tonsurans: una enfermedad emergente en Argentina.

Tinea capitis is a dermatophytosis, which is more common in children. It is caused by dermatophytes that vary according to the region; the most frequently isolated dermatophyte in our setting is Microsporum canis. Given its anthropophilic nature, its dissemination via interpersonal transmission and through the use of hair care tools is very common. In the course of the past year, an increase has been reported in the incidence of a pathogen that was very rare in our setting: Trichophyton tonsurans. Here we describe a retrospective study of cases of tinea capitis caused by Trichophyton tonsurans identified between September 2021 and March 2023 in the Department of Pediatric Dermatology at a general hospital of the City of Buenos Aires.

La tinea capitis es una dermatofitosis, más frecuente en niños. Está causada por hongos dermatofitos que varían según la región; el más frecuentemente aislado en nuestro medio es el Microsporum canis. Dado su carácter antropofílico, la transmisión por vía interpersonal y mediante el uso de instrumentos de cuidado capilar es muy habitual. En el transcurso del último año, se ha reportado un incremento en la incidencia de un patógeno que era muy poco habitual en nuestro medio: el Trichophyton tonsurans. Presentamos un estudio retrospectivo de los casos de tinea capitis por Trichophyton tonsurans identificados en el período comprendido entre septiembre de 2021 y marzo de 2023 en la Sección de Dermatología Infantil de un hospital general de la Ciudad Autónoma de Buenos Aires.

[Spanish translation, cross-cultural adaptation and validation of the ADTC scale (Atopic Dermatitis Control Tool)] / Traducción al español, adaptación transcultural y validación de la escala ADTC (Atopic Dermatitis Control Tool).

OBJETIVES: Obtain a version to validate it in a population of adults with AD. MATERIALS AND METHODS: 1) Translation into Spanish and cross-cultural adaptation of the questionnaire from the original version in English, through a seven-step process. 2) Evaluation of the unidimensionality of the resulting scale by means of an exploratory factor analysis (EFA), of its reliability by means of Cronbach's alpha coefficient, and of its validity by evaluating the correlation of its score with those of the POEM and DLQI questionnaires. (external reference criteria). RESULTS: The version resulting from the translation and cross-cultural adaptation process was well understood by the target population. The AFE of the 66 questionnaires documented the unidimensionality of the scale based on compliance with all the criteria used for its verification. Its reliability was excellent (Cronbach's Alpha: 0.917) and its score had a very high correlation with the external reference criteria (POEM: Spearman's Rho 0.85; p < 0.0001; DLQI Spearman's Rho = 0.81; p < 0 .0001). CONCLUSIONS: The version translated into Spanish and adapted for transculturation of the ADCT questionnaire has appropriate psychometric characteristics, which will contribute to optimizing the care processes of Spanish-speaking patients.

INTRODUCCIÓN: El cuestionario ADCT (Atopic Dermatitis Control Tool) permite objetivar en forma breve y autoadministrada la repercusión de la dermatitis atópica (DA) sobre la vida cotidiana de quien la padece. OBJETIVO: Obtener una versión validarla en una población de adultos con DA. MATERIALES Y METODOS: 1) Traducción al español y adaptación transcultural del cuestionario a partir de la versión original en inglés, a través de un proceso de siete pasos. 2) Evaluación de la unidimensionalidad de la escala resultante mediante un análisis factorial exploratorio (AFE), de su confiabilidad mediante el coeficiente alfa de Cronbach, y de su validez mediante la evaluación de la correlación de su puntaje con los de los cuestionarios POEM y DLQI (criterios externos de referencia). RESULTADOS: La versión resultante del proceso de traducción y adaptación transcultural fue bien comprendida por la población blanco. El AFE de los 66 cuestionarios documentó la unidimensionalidad de la escala a partir del cumplimiento de todos los criterios utilizados para su verificación. Su confiabilidad fue excelente (Alfa de Cronbach: 0,917) y su puntaje tuvo muy alta correlación con los criterios de referencia externos (POEM: Spearman's Rho 0,85; p < 0,0001; DLQI Spearman's Rho = 0,81; p < 0,0001). CONCLUSION: La versión traducida al español y adaptada transculturación del cuestionario ADCT tiene características psicométricas apropiadas, lo que contribuirá a optimizar los procesos de cuidado de pacientes de habla hispana.