Erythropoietic protoporphyria--report of a family and clinical review.
Three cases of erythropoietic protoporphyria are reviewed. The three patients constitute members of one family. The protoporphyrin content of the red blood cells was high, but porphyrins and their precursors in the urine and faeces were not excessive. Other normal members of the family did not reveal high protoporphyrin content in the red blood cells. Clinical symptoms were itching, swelling, shallow depressed scars and waxy yellow discoloration on the face and brown pigmentation and thickness on the back of the hands after exposure to the sun. The microscopic findings from skin biopsy specimens of the lesions resembled changes of the lipoid proteinosis.
Ozasa
S
S
Department of Dermatology, Hiroshima University School of Medicine, Kasumi 1-2-3, Hiroshima, Japan.
Yamamoto
S
S
Maeda
M
M
Inada
S
S
Yanai
S
S
Takagaki
K
K
D000328:Adult; D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D003306:Coproporphyrins / Q000378:metabolism; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D019085:Fluorescent Antibody Technique, Direct; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007564:Japan; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017121:Porphyria, Hepatoerythropoietic / Q000235:genetics* / Q000473:pathology*; D011379:Prognosis; D011524:Protoporphyrins / Q000378:metabolism; D012494:Sampling Studies; D012720:Severity of Illness Index
D003306:Coproporphyrins; D011524:Protoporphyrins