Epidermolysis bullosa dystrophica in children. Radiologic manifestations.

Abstract

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 and infections of the hands, knees, and elbows which caused diffuse scarring. Loss of all fingernails and flexion contractures also resulted. He had trouble with his teeth. On many occasions, the mouth, tongue, and gums were easily traumatized and ulcerated. Since early childhood, he has been on a diet of milk shakes, baby food, etc. because of dysphagia. The patient was first seen at New York University Hospital at the age of eight years for surgical treatment of contractures and webbing of the right hand. Functional improvement was noted following resection of the webs and application of split-thickness skin grafts. Further surgery on the hands was performed at nine, ten, and twelve years of age. At twelve years of age, there were complaints of substernal pain and much more dysphagia than customary. On Sept. 22, 1964, an esophagogram (Fig. 1) demonstrated a ring-like stenosis of the upper esophagus just below the thoracic inlet, and immediately below this, there was a defect in the posterior esophageal wall, suggestive of an ulcer and a submucosal abscess. Studies of the stomach, small intestine, and colon revealed no abnormalities. Subsequent examination of the esophagus (Fig. 2) on Oct. 29, 1964, showed decreased size of the ulcer. Roentgenograms obtained on Nov. 17, 1965 (Fig. 3), and May 31, 1966, demonstrated healing of the ulcer but progressive stenosis of the esophagus. A skeletal survey on Oct. 29, 1964, disclosed a generalized mild demineralized appearance of bone. The long bones were all slender and overly constricted. The hands were deformed with flexion contractures, and the shafts of the phalanges were thin with the terminal phalanges wedged. The bones of the feet had similar changes, but with no contractures. The skeletal maturation was slightly retarded. Skull films were normal.