Six patients with erythropoietic protoporphyria; the most common of the porphyrias, were seen at Nagasaki University Hospital and studied clinically and histopathologically. Cutaneous changes were observed in all six patients and are considered to be the result of both protoporphyrin and sunlight. These changes were classified as either acute or chronic, and the chronic changes were examined histologically and revealed a perivascular accumulation of PAS positive material in the upper dermis.Slight aberrations of liver function were found in three of our six cases, and we suggest that the liver cells were involved by a combination of protoporphyrin and sunlight.
Electron microscopic examinations were performed on skin specimens obtained from six patients with erythropoietic protoporphyria and one patient with erythropoietic porphyria (Gunther).The most important histopathological findings in the involved skin of porphyria is an accumulation of PAS positive material surrounding the small vessels in the upper dermis. The electron microscopic features of this material are discussed. It is not clear how this material is produced.
MATERIALSSix cases of erythropoietic protoporphyria as reported by us (3) (cases I through 6), and one case of erythropoietic porphyria (Giinther) as reported by Yano et al. (5) (case 7). Each case is summarized as follows:Case 1: A seventeen-year-old girl. Her chief complaint was petechiae on the dorsa of her hands after exposure to sunlight. Histopathological change was an accumulation of PAS positive material surrounding the small vessels in the upper dermis.Case 2: A thirty-two-year-old man. He had many small crater-like scars on his face, and there was lichenification on the dorsa of his hands. Histopathological finding was a marked accumulation of PAS positive material.Case 3: A six-year-old girl, photosensitive since the age of one year, with small flat scars on her face, and slight lichenification and hyperpigmentation on the dorsa of her hands. The accumulation of PAS positive material was seen on biopsy.Case 4: A three-year-old girl, the younger sister of case 3. Her photosensitivity also was noticed at the age of one year, but her signs and symptoms were less marked than those of her elder sister. However, the accumulation of PAS positive material
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