A case of congenital erythropietic porphyria

Authors

  • Tulika Rai Assistant Professor Department of Dermatology & Venereology Institute of Medical Sciences B.H.U,Varanasi
  • Prakriti Shukla

Keywords:

Photosensitivity, Porphyria, Autosomal recessive

Abstract

Congenital erythropoietic porphyria (CEP) is a rare form of porphyria. It is an autosomal recessive disorder, which results from deficiency of enzyme uroporphyrinogen III cosynthase (or uroporphyrinogen III synthase).  Due to the impaired function of this enzyme, excessive amounts of particular porphyrins accumulate, particularly in the bone marrow, plasma, red blood cells, urine, teeth, and bones. Due to photosensitivity, after exposure to light, the photo-activated porphyrins in the skin cause bullae (blistering) that often get infected. These infected lesions can lead to scarring, bone loss, and deformities. The hands, arms, and face are the most commonly affected areas. We report a 6-year-old male child presenting with CEP.

Author Biography

Tulika Rai, Assistant Professor Department of Dermatology & Venereology Institute of Medical Sciences B.H.U,Varanasi

Assistant ProfessorDepartment of Dermatology & VenereologyInstitute of Medical SciencesB.H.U,Varanasi-221005

References

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Published

2018-05-27

How to Cite

1.
Rai T, Shukla P. A case of congenital erythropietic porphyria. J Pak Assoc Dermatol [Internet]. 2018May27 [cited 2024Nov.3];27(4):387-90. Available from: http://www.jpad.com.pk/index.php/jpad/article/view/939

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