Case Report: A Novel MVK Missense Mutation in the Sporadic Porokeratosis Ptychotropica in China

Abstract

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

Ethics Statement

The publications of images were included with the patient’s consent.

Consent Statement

The authors certify that the patient has given her informed consent for case details and images to be published. Institutional approval is required for this case study.

Acknowledgments

We thank the patient and her family members who participated in this study.

Disclosure

The authors have no conflicts of interest to declare.

Additional information

Funding

This work was supported by The Construction Fund of Medical Key Disciplines of Hangzhou (2020SJZDXK03).