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

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.

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