
doi: 10.1148/90.1.124
pmid: 5635122
Epidermolysis bullosa is a rare hereditary skin disease, in which slight trauma disrupts the cohesion between the epidermis and the dermis, resulting in the formation of vesicles, bullae, and ulcers. Sorsby (4) described three principal types of this disease. The cases presented in this report are of his third or hypoplastic dystrophic type (25 per cent of all cases), which is transmitted by an autosomal recessive gene. Onset occurs at or shortly after birth. Widespread bullae follow very minor trauma, affecting both skin and mucosa, and heal with excessive scarring. The skin is thin, xerodermatic, and presenile in appearance. The nails are deformed or absent. The teeth are hypoplastic, and extensive caries develop early in life. Death may occur in early life. Case Reports Case I: M. C., a boy, was born on Feb. 2, 1952. On the first postnatal day, widespread skin bullae developed following minor trauma. Bullae in the oral cavity caused feeding problems. With growth, he continued to have numerous blisters ...
Chromosome Aberrations, Fingers, Male, Radiography, Contracture, Esophageal Stenosis, Infant, Newborn, Humans, Chromosome Disorders, Female, Toes, Epidermolysis Bullosa
Chromosome Aberrations, Fingers, Male, Radiography, Contracture, Esophageal Stenosis, Infant, Newborn, Humans, Chromosome Disorders, Female, Toes, Epidermolysis Bullosa
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