Congenital erythropoietic porphyria – A case report

Mrinal Gupta

Abstract


Porphyrias form a group of metabolic disorders caused due to defects in the heme synthetic pathway. Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive form of cutaneous porphyria with less than 200 cases reported in the literature, clinically characterized by marked skin photosensitivity, hypertrichosis, blistering, scarring, milia formation and dyspigmentation of the photo-exposed areas. We report a case of CEP in a four year old male child who presented with features of photosensitivity with darkening of urine color followed by blistering over the photoexposed sites and mutilation of face, hands and feet. Woods lamp examination of teeth and elevated urinary porphyrin levels confirmed the diagnosis.

 


Keywords


Porphyria, congenital erythropoietic porphyria, photosensitivity, Gunther’s disease, uroporphyrinogen III cosynthase

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References


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ISSN: 1560-9014