Megaconial congenital muscular dystrophy: Importance of cutaneous features and successful response to ustekinumab.
作者信息
Palacios-Diaz Rodolfo David, Pozuelo-Ruiz Mónica, Martínez-Castellano Francisco, Évole-Buselli Montserrat
机构信息
Dermatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
Genetic Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
出版信息
Pediatr Dermatol. 2025 Jan-Feb;42(1):118-120. doi: 10.1111/pde.15716. Epub 2024 Aug 14.
PMID:39143029
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.
摘要
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