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A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis

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Disseminated superficial actinic porokeratosis (DSAP) is the commonest clinical type of porokeratosis, characterized by many uniformly small, annular, anhidrotic and keratotic lesions developing on areas of sunlight exposure.1 In this… Click to show full abstract

Disseminated superficial actinic porokeratosis (DSAP) is the commonest clinical type of porokeratosis, characterized by many uniformly small, annular, anhidrotic and keratotic lesions developing on areas of sunlight exposure.1 In this study, we describe a novel premature termination mutation in FDPS gene in a Chinese family with DSAP. The proband (II-2, Figure 1a) was a 72-year-old woman from a family of four generations, in which her daughter had the similar cutaneous presentations. This article is protected by copyright. All rights reserved.

Keywords: disseminated superficial; superficial actinic; family; porokeratosis; actinic porokeratosis; novel premature

Journal Title: British Journal of Dermatology
Year Published: 2019

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