Hepatoerythropoietic porphyria.
In a case of hepatoerythropoietic porphyria (HEP) with unusual features, the patient had onset of photosensitivity in infancy, followed by spontaneous resolution of photosensitivity by the age of 7 years. Seven other cases of HEP have been found in the medical literature; the disease has systemic complications, mainly liver disease and anemia, and is inherited as an autosomal recessive trait. Certain clinical and biochemical features distinguish HEP from erythropoietic porphyria and erythropoietic protoporphyria, the two diseases with which HEP is often confused.
D000293:Adolescent; D000328:Adult; D000740:Anemia / Q000150:complications; D001855:Bone Marrow Diseases / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006418:Heme / Q000032:analysis / Q000652:urine; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D010787:Photosensitivity Disorders / Q000175:diagnosis; D011164:Porphyrias / Q000145:classification / Q000175:diagnosis*; D011379:Prognosis; D012871:Skin Diseases / Q000175:diagnosis*
D006418:Heme