Congenital Erythropoietic Porphyria: A Rare Case of Photosensitivity with Hemolytic Anaemia and Mental Retardation.

Abstract

Congenital erythropoietic porphyria, also called Gunther's disease, is a very rare genetic autosomal recessive diseaseaffecting less than 1 per 1,000,000 children. Pathogenesis involves genetic mutation encoding uroporphyrinogen-III cosynthase which leads to accumulation of porphyrin in many tissues, leading to extreme skin photosensitivity, red cell lysis, splenomegaly and reduced life expectancy. Herein, we report a 12-year mentally challenged girl with multiple blisters and scars on sun exposed sites since birth. She had hepatomegaly, erythrodontia, severe anaemia with haemolytic blood picture and mildly elevated liver enzymes. Skin biopsy showed deposition of amorphous eosinophilic porphyrins in the dermis, thus confirming a diagnosis of congenital erythropoietic porphyria.

• Authors: Nadia Shirazi, Payal Chauhan, Rashmi Jindal, Sohaib Ahmad
• Journal: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP (J Coll Physicians Surg Pak) Vol. 29 Issue 6 Pg. S23-S25 (Jun 2019) ISSN: 1681-7168 [Electronic] Pakistan
• PMID: 31142411 (Publication Type: Case Reports)

Topics

• Anemia, Hemolytic (diagnosis)
• Biopsy
• Child
• Female
• Hepatomegaly
• Humans
• Intellectual Disability
• Photosensitivity Disorders (diagnosis, metabolism, pathology)
• Porphyria, Erythropoietic (complications, diagnosis, metabolism)
• Porphyrias (congenital, metabolism, pathology)