Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.

Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous heritable skin disorder, characterized by blistering of the skin and mucous membranes following minor trauma. Dominant (DDEB) and recessive (RDEB) forms are caused by pathogenic variants in COL7A1 gene. Argentina's population has a heterogeneous genetic background, and little is known about the molecular basis of DEB in our country or in native South American populations. In this study, we present the prevalence and geographical distribution of pathogenic variants found in 181 patients from 136 unrelated families (31 DDEB and 105 RDEB). We detected 95 different variants, 59 of them were previously reported in the literature and 36 were novel, nine of which were detected in more than one family. The most prevalent pathogenic variants were identified in exon 73 in DDEB patients and in exon 3 in RDEB patients. We also report a new phenotype-genotype correlation found in 10 unrelated families presenting mild blistering and severe mucosal involvement. Molecular studies in populations with an unexplored genetic background like ours revealed a diversity of pathogenic variants, and we hope that these findings will contribute to the definition of targets for new gene therapies.

Estudio de la prevalencia del síndrome metabólico en pacientes con hidradenitis supurativa. Estudio retrospectivo de los últimos 2 años en el Hospital Alejandro Posadas / Study of metabolic syndrome prevalence in pacients with suppurative hidradenitis. A retrospective study of the last 2 years in Hospital Alejandro Posadas

Antecedentes: La hidradenitis supurativa (HS) es una enfermedad inflamatoria crónica relacionada con el síndrome metabólico (SM), con un mayor riesgo de comorbilidades cardiovasculares; por lo tanto, se debe mantener un alto grado de sospecha clínica frente al hallazgo de alguno de sus componentes. Objetivo: Evaluar la prevalencia del SM en los pacientes con diagnóstico de HS en comparación con la población general. Diseño: Estudio retrospectivo descriptivo. Métodos: Se revisaron las historias clínicas y el archivo fotográfico de los pacientes con diagnóstico de HS que consultaron entre el 1/9/2017 y el 31/8/2019. Se analizaron las variables: sexo, edad, antecedentes familiares, tiempo de evolución, índice de masa corporal, obesidad abdominal, laboratorio (glucemia y perfil lipídico), presión arterial, tabaquismo, número y localización de las lesiones, gravedad clinicoecográfica, respuesta al tratamiento y evolución clínica. Resultados: Se evaluaron 30 pacientes con HS valorados en nuestro servicio en los últimos 2 años; 23 mujeres y 7 varones. Predominó el grupo etario de 31-40 años. De ellos, 19 pacientes (63,3%) cumplieron con los criterios necesarios para diagnosticar el SM, hallazgo que no se relacionó con el grado de severidad de la HS. Conclusiones: La prevalencia del SM en nuestros pacientes con HS fue del 63,3% con respecto al 27,5% de la población general. La importancia de este hallazgo radica en detectar de forma temprana y oportuna la presencia de este síndrome en los pacientes con HS para evitar el riesgo de comorbilidades cardiovasculares en el futuro. (AU)

Background: Suppurative hidradenitis (SH) is a chronic, inflammatory disease, closely related to metabolic syndrome (MS), with an increased risk of cardiovascular comorbidities; for that reason we should keep a high level of clinical suspicion when one of its components is found. Objective: To evaluate MS prevalence in patients with diagnosis of SH in comparison with general population. Design: Descriptive retrospective study. Methods: We reviewed clinical and photographical files of patients with diagnosis of suppurative hidradenitis who consulted from 1/9/2017 until 31/8/2019. Variables analyzed were: sex, age, familial history, time of evolution, body mass index, abdominal obesity, glycemia, lipid profile, blood pressure, smoking, number and location of lesions, clinicalechographic severity, response to treatment and clinical evolution. Results: Thirty patients with SH were evaluated, 23 females and 7 males. The age group between 31-40 years prevailed; of these, 19 patients (63.3%) meet necessary criteria for diagnosis of MS, this finding did not correlate to the severity degree of SH. Conclusions: The MS prevalence in our SH patients was 63.3%, compared to 27.5% in the general population. The importance of this finding lays on detecting in an early and opportune way, the presence of MS in patients with SH, and to avoid the risk of future cardiovascular comorbidities. (AU)