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

• Main Authors: Qi Tan (Author), Hui-Fang Yang (Author), Li-Fang Lan (Author), Ling Xie (Author), Ru-Bing Lin (Author), Chun-Lei Wan (Author), Long-Nian Li (Author)
• Format: Book
• Published: Wolters Kluwer Health, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...