Article
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
JAMA dermatology - 1 Aug 2017
Balwani Manisha, Naik Hetanshi, Anderson Karl E, Bissell D Montgomery, Bloomer Joseph, Bonkovsky Herbert L, Phillips John D, Overbey Jessica R, Wang Bruce, Singal Ashwani K, Liu Lawrence U, Desnick Robert J
Abstract excerpt
Importance: Autosomal recessive erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses presenting with variable degrees of painful phototoxicity that markedly affects quality of life. The clinical variability, determinants of severity, and genotype/phenotype correlations of these diseases are not well characterized. Objective: To describe the baseline clinical...
Topics
- 5-Aminolevulinate Synthetase
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- Female
- Ferrochelatase
- Genetic Diseases, X-Linked
- Genotype