Megaconial congenital muscular dystrophy: Importance of cutaneous features and successful response to ustekinumab.

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Grupos

Abstract

Megaconial congenital muscular dystrophy (MCMD) is a rare autosomal-recessive multisystem disorder characterized by delayed motor development, intellectual disability, and skin involvement. We report a patient with MCMD who had diffuse ichthyosis-like scaling, and successfully responded to ustekinumab.

© 2024 Wiley Periodicals LLC.

Datos de la publicación

ISSN/ISSNe:
0736-8046, 1525-1470

PEDIATRIC DERMATOLOGY  WILEY

Tipo:
Article
Páginas:
118-120
PubMed:
39143029
Factor de Impacto:
0,689 SCImago
Cuartil:
Q2 SCImago

Citas Recibidas en Web of Science: 1

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Keywords

  • CHKB; megaconial congenital muscular dystrophy; ustekinumab

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