Case Report - Congenital erythropoietic porphyria in three siblings

Congenital erythropoietic porphyria is a rare autosomal recessive disorder that usually presents with marked skin photosensitivity, hypertrichosis, blistering, scarring, milia formation and dyspigmentation of the photo-exposed areas. Three adult siblings (two sisters and one brother) are presented here with variable degree of skin manifestations. During early childhood, all the siblings started showing signs of photosensitivity with darkening of urine color followed by skin blistering over the face and hands. The oldest showed severe sclerodermiform mutilation and the youngest exhibited an initial involvement with hypertrichosis. None of them had any history of convulsions, acute abdominal pain or joint pain. Woods lamp examination and laboratory investigations confirmed the diagnosis.

Keywords
Porphyria, Congenital erythropoietic porphyria, Günther′s disease, Hereditary erythropoietic porphyria, Uroporphyrinogen III synthase deficiency