Korean J Dermatol.  2002 Sep;40(9):1136-1138.

A Case of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) Diagnosed by Skin Biopsy

• Rho NK
• Choi SJ
• Lee ES

Abstract

CADASIL(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare genetic disease inherited in an autosomal dominant manner, which is characterized by migraine, strokes, mood disorders, and progressive cognitive disorders. With the aid of skin biopsy and electron microscopic examination, recently we have confirmed a diagnosis of CADASIL in a patient from neurology department. Although CADASIL does not present any cutaneous manifestations, dermatologists need to be aware of this rare neurologic disorder because characteristic electron microscopic findings on a skin biopsy specimen are diagnostic.

Keyword

CADASIL; Skin biopsy; Electron microscopy

MeSH Terms

Biopsy*
CADASIL*
Diagnosis
Humans
Microscopy, Electron
Migraine Disorders
Mood Disorders
Nervous System Diseases
Neurology
Skin*
Stroke