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CASE REPORT
Year : 2019  |  Volume : 20  |  Issue : 2  |  Page : 141-144

Congenital erythropoietic porphyria in an Indian Child


Department of Dermatology and STD, University College of Medical Sciences and GTB Hospital (University of Delhi), New Delhi, India

Correspondence Address:
Prof. Archana Singal
Department of Dermatology and STD, University College of Medical Sciences and GTB Hospital (University of Delhi), New Delhi - 110 095
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_67_18

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Congenital Erythropoetic Porphyria (CEP) also called the “Günther disease”, is a rare variant of porphyria. It is caused by the deficiency of uroporphyrinogen III synthase (URO-III-synthase), an enzyme in the heme biosynthetic pathway. Clinically, CEP presents with blistering over face and extremities, scarring, hypertrichosis and dyspigmentation. Acral blistering leads to mutilation of the fingers with acro-osteolysis of distal phalanx We, hereby, report an 8-years-old boy with classical clinical features and porphyrin assays.


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