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

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.