The Ultrastructural Study in a Case of Fabry Disease

PITI PALUNGWACHIRA,M.D.*, HITOSHI YAGUCHI, M.D.**

Affiliation : * Srinakharinwirot University Skin Center, Faculty of Medicine, Srinakharinwirot University, Bangkok 10110, Thailand. **Department of Dermatology, Juntendo University, Tokyo 113-8421, Japan.

AbstractAn investigation of the ultrastructural study was conducted on specimens from a typical patient with Fabry disease. Numerous characteristic cytoplasmic inclusions were observed in the vascular endothelial cell, pericyte, smooth muscle cell, nerve and eccrine sweat glands, the lamellar pattern of which were considerably variable in various types of gland cells. Large vacuolar inclusions predominated in clear cells of the secretory coil; lesser vacuoles were also seen in the coiled duct, and the basal cells of the straight duct toward the coiled duct displayed mulberry-like figures. There were some clear cells showing cell damage and necrosis in the secretory coil. Lamellated bodies were noted in the axons and schwann cells around the eccrine sweat glands. The small blood vessels around the eccrine glands were narrowed by swollen endothelial cells with heavy inclusions. These intracytoplasmic deposits may be responsible for the decreased sweating ability in Fabry disease. The factors related to hypohidrosis are also discussed.

Keywords : Fabry Disease, Ultrastructural Study

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