Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology
4 years ago

First genetic analysis of atypical phenotype of pseudoxanthoma elasticum with ocular manifestations in the absence of characteristic skin lesions

Mari Wataya-Kaneda, Akira Iwanaga, Yuta Koike, Atsushi Fukunaga, Atsushi Utani, Takeshi Fukumoto, Chikako Nishigori
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease, characterized by mineralization and degeneration of the elastic fibers in the skin, retina, and cardiovascular system.1-4 PXE is caused by mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, but it remains unknown how these mutations lead to the clinical phenotype.2-4 Although an association between mutations and phenotypes has been postulated, no definite correlation has been established.5 Patients with PXE usually exhibit typical skin lesions that are frequently the first diagnostic signs.1,6,7 This article is protected by copyright. All rights reserved.

Publisher URL: http://onlinelibrary.wiley.com/resolve/doi

DOI: 10.1111/jdv.14637

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