Congenital erythropoietic porphyria and its rarity in Indian siblings

Sukhmani Kaur Brar,Balvinder Kaur Brar,Anjugam Alagappan

doi:10.7241/ourd.20204.31

Sukhmani Kaur Brar, Balvinder Kaur Brar + Show 1 more

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https://doi.org/10.7241/ourd.20204.31

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Abstract

Congenital erythropoietic porphyria and its rarity in Indian siblings

Highlights

Sir, Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder of heme biosynthesis with an estimated prevalence of 1 in 1,000,000 or less [1]
6 and 15 years old, native residents of Uttar Pradesh, and born to a nonconsanguineous marriage presented themselves to the Department of Dermatology with a history of fluid-filled blisters in photo-exposed areas, which had healed with scarring and had been persistent from infancy, as well as reddish-brown discoloration of the urine and the teeth
Congenital erythropoietic porphyria (CEP), known as Gunther’s disease, is due to deficiency of uroporphyrinogen III synthase, leading to overproduction of uroporphyrinogen I and coproporphyrinogen I, which accumulate in the bone marrow, in erythrocytes, the plasma, the bones, and the teeth [3]

Summary

Introduction

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder of heme biosynthesis with an estimated prevalence of 1 in 1,000,000 or less [1]. CEP is the rarest of bullous porphyrias. 6 and 15 years old, native residents of Uttar Pradesh, and born to a nonconsanguineous marriage presented themselves to the Department of Dermatology with a history of fluid-filled blisters in photo-exposed areas, which had healed with scarring and had been persistent from infancy, as well as reddish-brown discoloration of the urine and the teeth. An examination revealed several intact blisters in the acral areas, milia, atrophic and hyperpigmented scars in photo-exposed areas, erythrodontia (Fig. 1a) in both, hypertrichosis and sclerodermatous hands in the older sibling

Results

Conclusion