Clinical, Cosmetic and Investigational Dermatology (May 2023)
Case Report: A Novel MVK Missense Mutation in the Sporadic Porokeratosis Ptychotropica in China
Abstract
Qin Mei,1 Fengling Xing,2 Yue Yin,2 Chengda Yuan2 1Department of Dermatology, Dermatology Hospital of Fuzhou, Fuzhou, Fujian, People’s Republic of China; 2Department of Dermatology, Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, Zhejiang, People’s Republic of ChinaCorrespondence: Chengda Yuan, Department of Dermatology, Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, TiYuChang Road 453th, Hangzhou, 310007, People’s Republic of China, Tel +8613336116910, Fax +86-571-85827534, Email [email protected]: Porokeratosis ptychotropica (PPt) is a rare type of porokeratosis (PK) characterized by pruritic, reddish-brownish verrucous papules, and plaques usually around genital area or buttocks. Here, a case of a 70-year-old woman who was diagnosed as PPt was reported. The patient suffered from severe pruritic papules and plaques in the buttock region and pubis for 4 years. The skin lesions were giant, well-defined brown plaques with many satellite papules scattered around. Both clinical manifestations and histopathological features supported the diagnosis of PPt. In review of the identified mutation was found in patients with disseminated superficial actinic porokeratosis (DSAP) combined with PPt, while its unclear in PPt. To investigate the hypothesis that the variant reported in the present case report may played as an independent “likely pathogenic factor” of PPt. Consequently, a de novo missense pathogenic mutation in the MVK gene was identified in this case. Unexpectedly, it is a first report of a novel MVK mutation in sporadic PPt. This rare case suggested an isogenetic background between PPt and DSAP, which may help to explore the underlying pathogenesis of PPt.Keywords: PPt, MVK, genetic testing, missense mutations, mevalonate pathway
