Epidermal neoplasms with epidermolysis bullosa dystrophica with the first report of carcinoma with the acquired type.
Carcinoma, usually always squamous cell carcinoma, is one of the most serious complications in epidermolysis bullosa dystrophica. It can occur on the skin, mucous membranes, the esophagus and possibly the upper part of the bronchial tree. We are reporting on four new patients; one, the youngest to be so reported, one with a definite autosomal dominant inheritance and one with a chronic acquired dystrophica epidermolysis bullosa. Most cases have an autosomal recessive inheritance, but the disorder is probably more hetereogeneous in its inheritance than has been reported. Studies of the collagen indicate a disturbance, but present studies indicate the defect to be more a cellular defect in the fibroblast yet undetermined. The carcinomas, usually multiple, appear to arise on scarred tissue and to metastasize rapidly with death.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000209:etiology* / Q000473:pathology; D004820:Epidermolysis Bullosa / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D003012:Microbial Collagenase / Q000378:metabolism; D008875:Middle Aged; D012878:Skin Neoplasms / Q000209:etiology* / Q000473:pathology
D003012:Microbial Collagenase