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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Health
2023-06-01
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| Series: | International Journal of Dermatology and Venerology |
| Online Access: | http://journals.lww.com/10.1097/JD9.0000000000000270 |