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Radiological Case of the Month

John L. Gwinn, MD; Fred A. Lee, MD; Gerald I. Sugarman, MD
Am J Dis Child. 1972;123(3):231-232. doi:10.1001/archpedi.1972.02110090101013.
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Clinical History.—This 7½-year-old boy was admitted to Childrens Hospital of Los Angeles because of secondary skin infections, anemia, and hypoprothrombinemia. He has had skin lesions since birth but unfortunately complete family and medical history were not available because he had been in a series of hospitals and foster homes since infancy.

Physical Examination.—The child was nonambulatory, severely emaciated, stunted, and acted depressed and retarded. There were severe trophic changes of the skin with secondary infection and scarring, especially on the stress parts of the body. Scalp hair and eyebrows were absent and there were joint contractures at the hips, knees, elbows, and the hands and feet. There was some difficulty in swallowing solid food. A barium esophagram was performed and roentgenograms of the extremities were obtained.

Denouement and Discussion 

Epidermolysis Bullosa Dystrophica  The diagnosis was apparent clinically. Roentgenographic findings of upper and midthoracic esophageal stenosis (Fig 1),


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