Congenital erythropoietic porphyria in an Indian Child
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 an...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2019-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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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| Item Description: | 2319-7250 10.4103/ijpd.IJPD_67_18 |