6533b7d8fe1ef96bd126b813

RESEARCH PRODUCT

Intraepidermal morphologic manifestations in lysosomal diseases.

subject

description

This paper reports the ultrastructural findings for the epidermis of biopsied skin specimens in numerous lysosomal diseases, which can be grouped as follows: a) presence of vacuolar lysosomal residual bodies in mucopolysaccharidoses I, II and III, Salla disease, GM 2 -gangliosidoses and infantile type II glycogenosis; b) avacuolar lysosomal residual bodies in Niemann-Pick disease type C, mucolipidosis IV, Farber disease, Fabry disease, and late infantile and juvenile neuronal ceroid-lipofuscinoses; c) absence of lysosomal residual bodies in GM 2 -gangliosidoses, metachromatic leukodystrophy, Gaucher disease and sialidosis type III Whenever possible, a biopsy of the skin for morphological diagnosis of lysosomal disorders ought not to be confined to the epidermis.