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Variante localizada de la epidermólisis bullosa de unión con la mutación R795X

Stefano Bighetti¹, Luca Bettolini¹, Sara Rovaris¹

¹Dermatology Department, ASST Spedali Civili di Brescia, University of Brescia.

Dermatology reports

|August 22, 2025

Resumen

Este estudio de caso detalla una rara y localizada epidermolisis bullosa (JEB) en un hombre de 61 años. La condición fue causada por una mutación en el gen COL17A1, lo que pone de relieve la necesidad de un diagnóstico genético preciso.

Área de la Ciencia:

La genética
Dermatología
Enfermedades raras

Sus antecedentes:

La epidermolisis bullosa (EB) abarca las afecciones hereditarias que causan la fragilidad de la piel.
La epidermolisis bullosa de unión (JEB) es un subtipo severo.
Las variantes localizadas de JEB son excepcionalmente raras.

Objetivo del estudio:

Para reportar un caso único de JEB localizado.
Para identificar la base genética de la enfermedad.
Para enfatizar la importancia del diagnóstico en los trastornos genéticos raros.

Principales métodos:

Presentación del caso clínico.
Historial detallado del paciente y examen físico.
Análisis genético para identificar mutaciones genéticas.

Principales resultados:

Un hombre italiano de 61 años presentaba lesiones localizadas, erosiones, cicatrices y distrofia de uñas.
Las pruebas genéticas identificaron una mutación en el gen COL17A1 (p.Arg795Ter o R795X).
Los hallazgos confirmaron una variante rara y localizada de JEB.

Conclusiones:

El diagnóstico genético preciso es crucial para el manejo de trastornos raros como esta variante de JEB.
Un diagnóstico erróneo puede dar lugar a tratamientos inadecuados e ineficaces.
Este caso amplía la comprensión de las mutaciones COL17A1 en los fenotipos EB.

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