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Hydroa Aestivale: Congenital Porphyria. Presented by Dr. Frank Menagh and Dr. C. E. Reyner.
D. E., a white girl age 7 years, has been under medical care at the Children's Hospital of Michigan since she was 1 year old. She has been carefully studied there and was recently referred to the pediatric department of Henry Ford Hospital for the purpose of having calcium and nitrogen balance studies done. Her course has been characterized by red urine, discolored teeth, alopecia, hirsutism, pronounced hemolytic anemia and severe osteoporosis with a history of 28 pathological fractures. She manifested typical hydroa aestivale with scarring at the site of the lesions on the hands and face. Up to the age of 2½ years she was treated with repeated transfusions for the anemia. At the age of 2½ years she had a splenectomy, after which the count stabilized at 3,000,000 red blood cells with 9 Gm.