Dermatoleukodystrophy
Dermatoleukodystrophy
Definition
Dermatoleukodystrophy is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.
Also known as Dermatoleukodystrophy — per MONDO