Hepato-erythropoietic porphyria presenting as scleroderma and acrosclerosis in a sibling pair.
Clinical and biochemical data are reported on a sibling pair with clinical and biochemical features of both erythropoietic protoporphyria and hepatic cutaneous porphyria. After many years of photosensitivity the clinical picture resembles systemic sclerosis.
D003937:Diagnosis, Differential; D004920:Erythropoiesis; D005260:Female; D006801:Humans; D008099:Liver / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D011164:Porphyrias / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D012595:Scleroderma, Systemic / Q000209:etiology*