Esporotricosis en niños. Estudio de 133casos en el Instituto Dermatológicode Jalisco “Dr. José Barba Rubio” / Sporotrichosis in childhood. A study of 133 cases in the Instituto Dermatológico of Jalisco “Dr. Barba Rubio”

Introducción: La esporotricosis es una micosis causada por Sporothrix schenckii. En las formas cutáneas, es común la inoculación traumática. EnMéxico, el estado de Jalisco es el área con mayor endemia y representa la micosis subcutánea más frecuente.Objetivo: El propósito de este estudio es describir la frecuencia y características clínicas de la esporotricosis en niños, en el Instituto Dermatológico deJalisco “Dr. José Barba Rubio” en los años de 1983 a noviembre del 2006.Material y métodos: Se trata de un estudio clínico retrospectivo, observacional y transversal donde se incluyen pacientes menores de 15 años deedad, con diagnóstico de esporotricosis y confirmado con cultivo positivo a Sporothrix schenckii. Las variables estudiadas fueron edad, sexo, topografía,forma clínica y lugar de procedencia.Resultados: En 23,11 años encontramos 133 casos de esporotricosis en niños, con una frecuencia de 5,7 infantes con esporotricosis por año. Laforma clínica linfangítica se observó en 72 casos (54,1%), la topografía más afectada fueron las extremidades superiores con 57 casos (42,8%). Elgrupo etario más representativo fue el de 13 a 15 años con 43 pacientes (32,4%) y el municipio de Guadalajara fue el más representativo.Concluimos que la esporotricosis en niños menores de 15 años, en nuestro Instituto es la micosis subcutánea más frecuente y representa la casuísticamás grande en México en este grupo de edad (AU)

Introduction: Sporotrichosis is a fungal infection caused by Sporothrix schenckii. In cutaneous sporotrichosis traumatic inoculation is common. Jaliscois the state in Mexico with a highest endemic and this is the most frequent subcutaneous mycosis in the Instituto Dermatológico de Jalisco “Dr. JoséBarba Rubio”. The purpose of this study is to describe the frequency and clinical characteristics of sporotrichosis in childhood at the Institute from1983 to the year 2006.Material and methods: This is a retrospective, observational and transversal clinical study. We included patients under 15 years of age with diagnosisof sporotrichosis confirmed by a positive culture of Sporothrix schenckii.We registered age, sex, topography, clinical form and residency.Results: In the period of 23.11 years we found 133 cases of sporotrichosis in children (5.7 children with sporotrichosis per year). Lymphangitic formwas observed in 72 cases (54.1%), the most affected localization was upper extremities with 57 cases (42.8%). The most frequent age group wasfrom 13 to 15 years of age with 43 patients (32.4%).Conclusions: Sporotrichosis in children under 15 years of age in our Institute of dermatology is the most frequent subcutaneous mycosis and representthe largest report of pediatric cases in Mexico (AU)

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp.

BACKGROUND: Hypotrichosis simplex of the scalp (HSS; MIM 146520) is a rare autosomal dominant form of non-syndromic alopecia that affects men and women equally. Up to now, only a small number of families with HSS have been reported. The affected individuals experience a diffuse progressing hair loss from childhood to adulthood that is confined to the scalp. Recently, HSS has been mapped to the short arm of chromosome 6 (6p21.3), allowing mutations in the corneodesmosin gene (CDSN) to be identified as the cause of the disorder. To date, two stop mutations have been found in three unrelated families with HSS of different ethnic origin. OBJECTIVES: To describe the first HSS-family with Latin American (Mexican) background comprising 6 generations and to identify a mutation in the CDSN gene. PATIENTS/METHODS: The patients were examined by a clinician and blood samples were taken. After DNA extraction, sequencing analysis of the CDSN gene and restriction enzyme analysis with PsuI were performed. RESULTS: By direct sequencing of the two exons of the CDSN gene, a nonsense mutation was identified in the index patient in exon 2, resulting in a premature stop codon (Y239X). The mutation co-segregates perfectly in the family with the disease and was not found in 300 control chromosomes using a restriction enzyme analysis with PsuI. CONCLUSIONS: A nonsense mutation was identified in the first family with HSS of Latin American ethnical background. Our data provide molecular genetic evidence for a 3rd stop mutation in exon 2 of the CDSN gene being responsible for HSS. All to date known nonsense mutations responsible 3 for HSS are clustered in a region of 40 amino acids which is in accordance with a dominant negative effect conferred by aggregates of truncated CDSN proteins.