title: Ultrastructural study of the skin in a case of juvenile ceroid-lipofuscinosis.
abstract: Ceroid-lipofuscinosis (CL) is a neurometabolic disorder due to an as yet unknown enzymatic deficiency. The electron-microscopic study of various organs shows a storage of a lipofuscin-like material. The ultrastructural study of clinically uninvolved skin in a typical case of juvenile CL is reported. Granular osmiophilic deposits were found in several cell types in the dermis, including fibroblasts, endothelial cells, macrophages, Schwann cells, pericytes, and muscle cells. Neither fingerprint nor curvilinear profiles could be observed. These findings demonstrate the involvement of clinically normal skin in CL and confirm the usefulness of the EM study of the skin in the diagnosis of this rare disorder.
authors.affiliation: Clinica Dermatologica, Universita di Modena, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Manca
authors.forename: J
authors.initials: J
authors.lastname: Kanitakis
authors.forename: G
authors.initials: G
authors.lastname: Zambruno
authors.forename: J
authors.initials: J
authors.lastname: Thivolet
authors.forename: P M
authors.initials: PM
authors.lastname: Gonnaud
mesh_terms: D000328:Adult; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D008264:Macrophages / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification / Q000473:pathology*; D012867:Skin / Q000648:ultrastructure*