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

• Główni autorzy: Qi Tan (Autor), Hui-Fang Yang (Autor), Li-Fang Lan (Autor), Ling Xie (Autor), Ru-Bing Lin (Autor), Chun-Lei Wan (Autor), Long-Nian Li (Autor)
• Format: Książka
• Wydane: Wolters Kluwer Health, 2023-06-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

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...