Ultrasound study of the skin in a case of juvenile ceroid-lipofuscinosis

V. Manca, J. Kanitakis, G. Zambruno, J. Thivolet, P. M. Gonnaud

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)412-416
Number of pages5
JournalAmerican Journal of Dermatopathology
Volume12
Issue number4
Publication statusPublished - 1990

Keywords

  • ceroid-lipofuscinosis
  • electron microscopy

ASJC Scopus subject areas

  • Dermatology
  • Pathology and Forensic Medicine

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    Manca, V., Kanitakis, J., Zambruno, G., Thivolet, J., & Gonnaud, P. M. (1990). Ultrasound study of the skin in a case of juvenile ceroid-lipofuscinosis. American Journal of Dermatopathology, 12(4), 412-416.