A Case of Weber-Cockayne Epidermolysis Bullosa Simplex - Ultrastructural Findings.
- Author:
Il Joo LEE
;
Soo Chan KIM
- Publication Type:Case Report
- Keywords:
Weber-Cockayne epidermolysis bullosa simplex;
Condensation of tonofilament;
Ultrastructure
- MeSH:
Blister;
Cytoplasm;
Edema;
Epidermolysis Bullosa Simplex*;
Epidermolysis Bullosa*;
Keratin-5;
Microscopy, Electron
- From:Korean Journal of Dermatology
1997;35(1):214-219
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominantly inherited genetic disorders characterized by blistering due to mechanical- stress-induced degeneration of basal epiderrnal cells. Recently, it was discovered that EBS is induced by keratin 5 and 14 gene mutations. Weber Cockayne (W-C) EBS is the mildest type, with blistering concentrates primarily on palar and plantar regions, and basal cell cytolysis by keratin filament perturbations is present. Herein we report a case of W-C EBS with its ultrastructural findings. Electron microscopy showed cytolysis and separation of the basal epidermal cells, mainly at the subnuclear cytoplasm. The cyto- plasm of basal cells showed edema, loosening and intact rnitochondria. Besides the cytoplasmic changes, the nucleus also showed lytic degeneration. Characteristically, dense condensation of tonofilarnent was observed, which suggests that W-C EBS is. also a disorder of keratin.
