Clinical, Cosmetic and Investigational Dermatology (Aug 2024)
MVD Variants Identified in a Rare Clinical Variant of Porokeratosis: A Case Report of Disseminated Superficial Porokeratosis (DSP) in a Chinese Patient
Abstract
Tao Yu,1 Yue Yin,1 Chang Shu,2 Cheng-da Yuan1 1Department of Dermatology, Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, Zhejiang, People’s Republic of China; 2Department of Pathology, Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, Zhejiang, People’s Republic of ChinaCorrespondence: Cheng-da Yuan, Department of Dermatology, Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Ti Yu Chang Road 453th, Hangzhou, 310007, People’s Republic of China, Tel +8613336116910, Fax +86-571-85827534, Email [email protected]: Porokeratosis comprises a diverse range of both hereditary and acquired disorders characterized by clonal hyperproliferation of keratinocytes. These disorders manifest with a variety of clinical presentations but are histologically unified by the presence of the cornoid lamella. In this study, we report an unusual presentation of a rare clinical variant of porokeratosis, namely disseminated superficial porokeratosis, in which mutations in the Mevalonate decarboxylase (MVD) gene have been identified. This finding contributes to the growing understanding of the genetic underpinnings of this complex dermatological condition and may have implications for diagnosis and treatment.Keywords: disseminated superficial porokeratosis, porokeratosis, MVD variants
