Congenital Erythropoietic Porphyria: A Rare Inherited Disorder

Congenital erythropoietic porphyria (CEP), also known as Gunther's disease, is an uncommon autosomal recessive disorder caused by a mutation in the uroporphyrinogen III synthase gene. This mutation results in reduced enzyme levels in heme synthesis and the accumulation of pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I, leading to the clinical manifestations of CEP. Typically, CEP manifests shortly after birth with severe cutaneous photosensitivity, blistering, ulceration, and scarring. Erythrodontia, acro-osteolysis, and skeletal abnormalities are frequently present in conjunction with it. It can even manifest in utero as hydrops fetalis, with pink or red diaper staining as an early diagnostic clue. In this case, we present a 17-year-old male with complaints of discharge over the left foot, blisters upon sunlight exposure, extensive mottled pigmentation, excessive facial hair, mutilated fingers, and verrucous growth over the toes. Using a Wood's lamp revealed pink fluorescence of teeth and ulcers on the foot. Laboratory investigations demonstrated anemia, leukocytopenia, thrombocytopenia, and elevated urine uroporphyrin 1 and coproporphyrin 1 levels. Current treatment approaches include sun protection to avoid further skin damage, beta-carotene to reduce oxidative stress, and blood transfusions to manage anemia. Stem cell transplantation remains the sole curative therapy for this exceedingly rare condition. This case report underscores the rarity and complexity of CEP and emphasizes the challenges in its management.