A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review

A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review

Abstract Variegate Porphyria (VP) is an inherited rare disorder that is caused by mutations in the protoporphyrinogen oxidase (PPOX) gene. This deficiency is associated with the accumulation of porphyrins and porphyrin precursors in the body, which, in turn, can potentially result in a variety of sk...

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Bibliographic Details
Main Authors: Mohammad Vafaee-Shahi, Saeide Ghasemi, Aina Riahi, Zahra Sadr
Format: Article
Language:English
Published: BMC 2022-02-01
Series:Italian Journal of Pediatrics
Subjects:
Variegate Porphyria
PPOX gene
skin and neurological symptoms
Homozygote mutation
Seizure
Online Access:https://doi.org/10.1186/s13052-022-01215-8

Internet

https://doi.org/10.1186/s13052-022-01215-8

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