The cutaneous porphyrias.
Deficiencies of 7 enzymes in the heme biosynthetic pathway result in the development of porphyrias. Two of the porphyrias, aminolevulinate dehydratase deficiency porphyria and acute intermittent porphyria do not have cutaneous findings. Cutaneous findings in the other porphyrias could be subdivided into acute phototoxicity and subacute phototoxicity. In addition, 2 of the porphyrias, hereditary coproporphyria and variegate porphyria have both cutaneous and neurovisceral findings. Now that chromosomal assignments for all the genes of the defective enzymes have been mode, prenatal diagnosis is possible for congenital erythropoietic porphyria, and in vitro gene therapy has been successfully performed for congenital erythropoietic porphyria and erythropoietic protoporphyria.
Lim
H W
HW
Department of Dermatology, Henry Ford Health System, Detroit, MI 48202, USA.
Cohen
J L
JL
D017484:Dermatitis, Phototoxic / Q000209:etiology; D015316:Genetic Therapy; D006801:Humans; D017092:Porphyria, Erythropoietic / Q000235:genetics; D017121:Porphyria, Hepatoerythropoietic / Q000235:genetics; D011164:Porphyrias / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D011296:Prenatal Diagnosis