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BACKGROUND AND OBJECTIVES Skin diseases are a common reason for emergency department (ED) consultations; however, few studies have focused on pediatric patients. Diagnostic consistency between ED physicians and dermatologists varies from 43% to 58%, meaning many patients seeking emergency care may receive incorrect diagnoses and treatments. We aimed to determine the diagnostic concordance between ED physicians and pediatric dermatologists. METHODS We conducted a prospective study including all pediatric patients (

Background Autoinflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation (APLAID) is an exceedingly rare monogenic autoinflammatory disease. To date, only five cases have been reported with four distinct pathogenic mutations. Objectives We present a novel case of APLAID, corroborated by molecular analysis, with newly described clinical findings including central nervous system vasculitis (CNSV); and distinctive histopathological characteristics that may expand our knowledge of this rare disease's phenotype. Methods This is a case report presentation of a 3-year-old boy, seen at a reference paediatric hospital in Mexico. His parents authorized the use of his clinical information and photographs. Results A 3-day-old boy presented to the emergency department with a vesiculo-pustular rash that resolved within 1 week. Two months later, he developed widespread papules and pseudovesicles that evolved into infiltrated plaques. He also had periodical flares of conjunctivitis, diarrhoea and erythematous blistering acral plaques triggered by upper respiratory infections. By the age of 10 months, he experienced seizures and CNSV. Laboratory work-up showed mild neutropenia, decreased serum levels of immunoglobulins and B-cell lymphopenia. A skin biopsy revealed a dense, perivascular and interstitial histiocytic and granulomatous infiltrate, with palisading granulomas, and leucocytoclastic vasculitis with karyorrhexis. APLAID syndrome was confirmed by Sanger sequencing of PLCG2 gene [heterozygous genotype LRG_376t1:c.2543T>C or p.(Leu848Pro)]. Conclusions Presence of CNSV has not been previously described in APLAID, however as the number of reported patients with APLAID is very small, it is possible that the overall spectrum of clinical manifestations has not been completely elucidated. The herein identified p.(Leu848Pro) variant was also documented in a Portuguese patient, suggesting that it could be a PLCG2 gene 'hot-spot'.

Introduction Hypohidrotic ectodermal dysplasia (HED) is a genetic condition typified by alterations in skin structures including sweat glands, hair, nails, and teeth. Hair findings in HED have been poorly characterized in larger series. Objective To characterize scalp and hair findings of patients with HED clinically and with trichoscopy and light microscopy. Methods A cross-sectional study in 21 pediatric HED patients was performed using available clinical and scalp dermatoscopic images, as well as pulled-hair samples for clinical evaluation, trichoscopic, and light microscopic analyses. Results Seventeen out of 21 patients (81%) were men. Twenty patients had straight hair. Sixteen patients had decreased hair density, 6 of whom had hair loss mainly in the temporal and occipital regions. Fourteen patients had hair whorls. On trichoscopy, we observed: single-hair follicular units (n = 19, 90%), scalp hyperpigmentation (n = 13, 62%), variable diameter of the hair shafts (n = 12, 57%), perifollicular scales (n = 8, 38%), scalp erythema (n = 8, 38%), and short curly pigtail hairs (n = 6, 29%). On light microscopy, findings included: hair shafts with irregular diameter (n = 7, 33%), heterogeneous hair color (n = 6, 29%), trichoptilosis (n = 2, 10%), and pili torti (n = 1, 5%). Conclusions In this series, hair findings in HED were similar to those described in previous studies. However, we describe two new clinical and two trichoscopic findings: decreased hair density mainly in the temporal and occipital regions, oblique upwards occipital hair follicles orientation, angled hairs, and short curly pigtail hairs. These heterogeneous findings may reflect the multiple factors and signaling pathways that can be affected in these syndromes.

A pair of male monozygotic twins is born at 38 weeks of gestation via a cesarean delivery to a 29-year-old woman with normal prenatal care. Three ultrasound scans are obtained during pregnancy, confirming monochorionic-monoamnionic twin gestation from the first study, and the presence of an amniotic band that does not affect any product in the second ultrasound scan. The rest of the perinatal history is unremarkable. Since the first week after birth their mother has noticed small lesions on the face and trunk. They are seen in the hospital at 15 days of age. On physical examination, they have yellowish-brown, soft dome-shaped papules and nodules, 0.5 to 2 cm in diameter, affecting the head, trunk, and extremities. Twin number 1 has 21 lesions and twin number 2 has 25 (Figs 1 and 2). They are asymptomatic, neither twin has hepatosplenomegaly or enlarged lymph nodes, and neither their parents nor grandparents have similar skin lesions. Figure 1. Multiple yellow-red nodular lesions in the head, limbs, and trunk of both twins. Figure 2. Dome-shaped yellowish plump nodules. A biopsy of one of the lesions shows a massive dermal infiltrate of round, medium-sized mononuclear cells with abundant cytoplasm and reniform nuclei that extended to the subcutaneous tissue (Fig 3A). Immunohistochemistry was positive for CD68 (Fig 3B), CD33, and CD163; and negative for CD1a, compatible with non–Langerhans cell histiocytosis (LCH) phenotype. Results of …

There are no pathognomonic histopathological features to distinguish acute graft-vs-host disease (aGVHD) from skin drug reactions (SDRs) in pediatric patients with multiple drug regimens that have received blood transfusions and/or transplants. We aimed to determine if the addition of apoptosis markers is helpful to distinguish aGVHD from SDRs in these patients.Skin biopsy specimens from patients with a clinical diagnosis of aGVHD or SDRs were evaluated for the presence of apoptotic bodies, satellitosis, interface damage, vasculitis, and inflammatory infiltrate on HE stain. Information was completed with apoptotic markers (transferase-mediated dUTP nick end-labeling [TUNEL], bcl-2, and caspase-3).The skin biopsy specimens of 32 patients with aGVHD and 11 with SDRs were included for study. Only the number of apoptotic keratinocytes per 10 high-power fields (hpf) showed a significant difference between both groups (P = 0.02); the presence of ≥4 apoptotic keratinocytes per 10 hpf was identified as the optimal cut-off point to discriminate aGVHD from SDRs. No SDRs cases had follicular apoptotic cells. TUNEL, bcl-2, and caspase-3 determination showed no difference between both groups.The presence of ≥4 apoptotic keratinocytes per 10 hpf (in aGVHD) and the absence of follicular apoptotic cells (in SDRs) might be a useful marker to distinguish between them.

Las anomalías vasculares (AV) comprenden un grupo heterogéneo de alteraciones en los vasos sanguíneos y linfáticos. La Sociedad Internacional para el Estudio de las Anomalías Vasculares (ISSVA) las clasifica en dos grupos: tumores y malformaciones vasculares. Las malformaciones vasculares son entidades secundarias a errores congénitos durante la morfogénesis vascular. De acuerdo con el vaso malformado se dividen en: capilares, linfáticas, venosas, arteriovenosas, fístulas arteriovenosas, malformaciones combinadas, de grandes vasos y asociadas a otras anomalías. Las malformaciones capilares afectan piel y mucosas, se presentan como manchas de aspecto vascular, con mayor frecuencia en cabeza y cuello, cuyo color varía desde un tono rosado a un eritemato-violáceo. Las malformaciones linfáticas se manifiestan como un incremento de volumen subcutáneo, bien delimitado, de consistencia blanda, sin cambios en la coloración de la piel subyacente. Las malformaciones venosas se presentan como un aumento de volumen mal delimitado, de consistencia suave y compresible, la piel de la superficie presenta una coloración azul-violácea y si bien son congénitas, pueden no ser evidentes hasta la pubertad o posterior a un traumatismo. Finalmente, las malformaciones arteriovenosas que son las menos frecuentes, se presentan como un incremento de volumen subcutáneo, mal delimitado, de consistencia firme con un thrill o pulso a la palpación. La importancia de este segundo artículo de AV radica en poder categorizar de una manera inicial, si se trata de un tumor o una malformación vascular, con el fin de ofrecer un abordaje y manejo interdisciplinario y dirigido.

BackgroundOne of the most important complications of Kawasaki disease is the development of giant coronary aneurysms. Risk factors for their development are still not clear.MethodsA retrospective analysis was conducted at the National Institute of Paediatrics in Mexico City, Mexico. It included all patients with a diagnosis of acute Kawasaki disease between August, 1995 and August, 2015. Clinical and laboratory findings, as well as echocardiographic measurements, were recorded. Patients with giant coronary aneurysms (z-score⩾10) were compared with the rest of the patients. A value of pResultsDuring the study period, 416 patients were diagnosed with Kawasaki disease. Of them, 34 developed giant coronary aneurysms during the acute stage of the disease. In the multivariate analysis, patients younger than 1 year, those with a higher duration of illness at the time of diagnosis, and those who received additional intravenous immunoglobulin showed a significantly higher frequency of giant coronary aneurysms.ConclusionsOne of the main factors associated with the development of giant coronary aneurysms was the delay in the diagnosis of Kawasaki disease. This finding highlights the importance of maintaining a high suspicion of the disease, which would enable an early diagnosis and prompt treatment and decrease the risk for developing giant coronary aneurysms.

Las anomalías vasculares son un grupo heterogéneo de alteraciones en los vasos sanguíneos y linfáticos. La International Society for the Study of Vascular Anomalies (ISSVA) las clasifica en: tumores y malformaciones vasculares. En este artículo (primera parte de dos) se revisan los principales tumores vasculares en pacientes pediátricos, su fisiopatogenia, manifestaciones clínicas, diagnóstico y tratamiento. Nos enfocaremos en el hemangioma infantil, hemangiomas congénitos, granuloma piógeno, angioma en penacho y hemangioendotelioma kaposiforme.El hemangioma infantil es el tumor vascular más frecuente, aparece en las primeras 4 semanas de vida y crece con rapidez, para posteriormente involucionar en la etapa preescolar. Se manifiesta como una neoformación vascular, de coloración eritematoviolácea, de tamaño variable. Los hemangiomas congénitos son más raros, están completamente desarrollados al nacimiento porque su crecimiento es intrauterino. El granuloma piógeno es el tumor vascular más frecuente, después del hemangioma infantil, y se manifiesta como una neoformación de color rojo-violáceo, exofítica; es de crecimiento rápido y sangra fácilmente. El angioma en penacho y el hemangioendotelioma kaposiforme, que algunos autores consideran espectros de una misma enfermedad, son tumores vasculares poco frecuentes que suelen aparecer en los primeros meses de vida y que se asocian con complicaciones hematológicas: fenómeno de Kasabach-Merritt, que puede poner en riesgo la vida del paciente.La clasificación adecuada de los tumores vasculares es indispensable para la correcta comunicación entre las especialidades implicadas, con el fin de establecer el diagnóstico correcto y planificar el tratamiento.

El uso prolongado de esteroides tópicos en niños se puede asociar con efectos adversos locales y sistémicos. Se presenta el caso de una paciente de seis meses de edad con síndrome de Cushing iatrogénico y sarna costrosa tras el uso de betametasona al 0.05% en el área del pañal. La sarna costrosa es una variedad de escabiosis que tiene la particularidad de ser más extensa y más contagiosa; generalmente se observa en pacientes inmunodeprimidos. En este caso fue favorecida por la aplicación crónica de esteroides tópicos. Los médicos de primer contacto y los padres deben conocer los efectos secundarios potenciales de los esteroides tópicos, especialmente en áreas de piel delgada o cubierta (como el área del pañal) en donde la absorción de los esteroides tópicos se incrementa.