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April 1978

The Coexistence of Two Types of Porphyria in One Family

Author Affiliations


From the Department of Dermatology, National Naval Medical Center, Bethesda, Md (Dr Johnson) and the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md (Drs Levine and Tschudy). Dr Levine is now with University of Connecticut Health Center, Farmington.

Arch Dermatol. 1978;114(4):613-614. doi:10.1001/archderm.1978.01640160085028

Erythropoietic protoporphyria (EPP) and porphyria cutanea tarda (PCT) are well-defined disorders of porphyrin metabolism that have been studied extensively, including hereditary mechanisms of transmission. The former appears to be transmitted via a Mendelian dominant pattern of inheritance, whereas the latter usually has no demonstrable hereditary pattern.1

The present report describes a father with PCT and a daughter with EPP. In both, the clinical and chemical findings were characteristic of their respective diseases.

Report of Cases 

Case 1.—A  47-year-old man was first seen in 1971 with a three-year history of skin eruptions. He described painful blisters of the hands and face and increased skin fragility followed by residual hyperpigmentation and scarring after exposure to the sun. He frequently observed winered urine. Ethanol consumption was heavy but there was no history of other drugs. The patient recalled similar skin changes in his father, who also had a heavy ethanol consumption. The

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