[Atypically localized persistent skin changes in erythropoietic protoporphyria (EPP)--histologic and electron microscopic findings (author's transl)].
The case of a 29 year old man is presented, who showed 'sunburn like' reactions following short exposures to light since early childhood. Demonstration of fluorocytes and analysis of porphyrins confirmed the diagnosis of erythropoietic protoporphyria (EPP). It is noteworthy that the patient failed to show clinical signs, characteristic for EPP at the nasal area or the extensor aspects of the hands, whereas indurated plaques with firm skin coloured papules were observed in the shoulder regions. Biopsies taken from these areas revealed PAS-positive material especially around the capillaries of the dermal papillae, a finding typically for EPP. Electronmicroscopic investigation revealed reduplication of the vascular basal lamina and perivascular deposition of a fine fibrillar material. Therefore the cutaneous changes, yet clinically atypical, seem to be correlated with EPP.
D000328:Adult; D004900:Erythroblasts / Q000032:analysis; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D010787:Photosensitivity Disorders / Q000473:pathology; D011164:Porphyrias / Q000473:pathology*; D011166:Porphyrins / Q000378:metabolism*; D011524:Protoporphyrins / Q000032:analysis / Q000378:metabolism*; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000473:pathology*
D011166:Porphyrins; D011524:Protoporphyrins
Atypisch lokalisierte, bleibende Hautveränderungen bei der erythropoetischen Protoporphyrie (EPP)--histologische und elektronenmikroskopische Befunde.