Two Novel Mutations in FECH in a Patient With Erythropoietic Protoporphyria: A Case Report

Introduction:. Erythropoietic protoporphyria (EPP) is a rare photodermatosis mainly caused by deficiency of the enzyme ferrochelatase (FECH). We herein report a case of EPP associated with 2 novel mutations in FECH. Case presentation:. A 15-year-old boy experienced pain and pruritus after sunlight e...

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Bibliographic Details

Published in:	International Journal of Dermatology and Venerology
Main Authors:	Qi Tan, Hui-Fang Yang, Li-Fang Lan, Ling Xie, Ru-Bing Lin, Chun-Lei Wan, Long-Nian Li
Format:	Article
Language:	English
Published:	Wolters Kluwer Health 2023-06-01
Online Access:	http://journals.lww.com/10.1097/JD9.0000000000000270