Epidermolysis bullosa junctionalis progressiva in three siblings.
Three siblings of Swiss origin with epidermolysis bullosa junctionalis progressiva are described. The following clinical features were present from school age: dystrophy of the nails, non-scarring blistering of the skin, mild skin atrophy, hypodontia and dental caries. Light microscopy showed subepidermal blistering. Direct immunofluorescence was negative. On indirect immunofluorescence staining of a fresh spontaneous blister, bullous pemphigoid antigen and laminin were localized to the blister roof, and collagen IV and collagen VII to the blister base, indicating junctional splitting. Electron microscopy revealed a normal dermo-epidermal junction zone, including normal hemidesmosomes. There were no deposits of electron-dense amorphous material.
Bircher
A J
AJ
Department of Dermatology, University of Basle, Switzerland.
Lang-Muritano
M
M
Pfaltz
M
M
Bruckner-Tuderman
L
L
D000293:Adolescent; D000328:Adult; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics* / Q000473:pathology; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D010375:Pedigree; D012867:Skin / Q000648:ultrastructure