Hepatoerythropoietic porphyria in Child
HEP is an extremely rare autosomal recessive form of chronic hepatic porphyria, with approximately 40 reported cases. HEP is caused by mutation of both uroporphyrinogen decarboxylase (UROD) alleles (eg, homozygous or compound heterozygous mutations) and results in excess uroporphyrin in the liver and urine. HEP is disfiguring and is characterized by photosensivity (delayed), bullae on sun-exposed skin (face, hands, forearm, neck, back, feet), skin fragility, hypertrichosis, scarring, "pseudoscleroderm" features (ie, scarring, contracture, and calcification), itching, and red urine. Other commons signs include hyperpigmentation and splenomegaly. Onset is typically during infancy and early childhood. Life expectancy appears to be normal.
E80.20 – Unspecified porphyria
111386004 – Homozygous porphyria cutanea tarda
Differential Diagnosis & Pitfalls