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A novel mutation in a CARD14-associated papulosquamous eruption |
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| Authors: | Nana Li MD Jing Tao MD Jingli Zhang MM Zhen Liu MD Ping Yu MD |
| Affiliation: | 1. National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China;2. National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China;3. Department of Pathology, 363 Hospital, Chengdu, Sichuan, China |
| Abstract: | CARD14-associated papulosquamous eruption (CAPE), a spectrum that includes clinical features of psoriasis and pityriasis rubra pilaris (PRP), is associated with activating mutations in the CARD14 gene. Herein we describe the clinical features of a family with CAPE and a novel mutation of CARD14, and highlight ectropion as part of the phenotypic spectrum of CAPE. |
| Keywords: | CAPE CARD14 gene mutation |