Megaconial congenital muscular dystrophy: Importance of cutaneous features and successful response to ustekinumab
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Updated: Jun 17, 2025

06:37
Immunolabelling Myofiber Degeneration in Muscle Biopsies
Published on: December 5, 2019
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Rodolfo David Palacios-Diaz1, Mónica Pozuelo-Ruiz1, Francisco Martínez-Castellano2
1Dermatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
Pediatric Dermatology
|August 14, 2024
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.
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