Cicatricial junctional epidermolysis bullosa.
Six types of junctional epidermolysis bullosa (JEB) have been described previously. Each of these types may develop atrophy after recurrent blistering but healing with scar formation does not occur. We describe three cases with a new type of JEB that we have designated as cicatricial junctional epidermolysis bullosa (CJEB). This type is characterized clinically by blisters that heal with scarring and may result in syndactyly and contractures and by stenosis of the anterior nares. These cases were all believed to represent a dystrophic type of epidermolysis bullosa (EB) clinically and emphasize the necessity for electron microscopy of the skin in all EB patients with dystrophic features in order to make a definite diagnosis as to type. Electron microscopy revealed junctional bullae associated with rudimentary hemidesmosomes. Breaks in the basement membrane were noted in addition to active fibroblastic proliferation and laying down of new collagen.
D000328:Adult; D001485:Basement Membrane / Q000473:pathology; D002648:Child; D002921:Cicatrix / Q000473:pathology; D003896:Desmosomes / Q000473:pathology; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology