Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 16, 2022; 10(14): 4528-4534
Published online May 16, 2022. doi: 10.12998/wjcc.v10.i14.4528
Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report
Hong-Jun Xu, Guang-Dong Wen
Hong-Jun Xu, Department of Dermatology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China
Guang-Dong Wen, Department of Dermatology, Peking University People's Hospital, Peking University, Beijing 100044, China
Author contributions: Xu HJ collected all the clinical data and wrote the draft manuscript. Wen GD completed the gene analysis; all authors read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review from the Editor of this journal.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to report.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hong-Jun Xu, MD, Chief Doctor, Department of Dermatology, Beijing Friendship Hospital, Capital Medical University, No. 95 Yong'an Road, Xicheng District, Beijing 100050, China. ink-008@163.com
Received: July 30, 2021
Peer-review started: July 30, 2021
First decision: December 1, 2021
Revised: December 11, 2021
Accepted: March 25, 2022
Article in press: March 25, 2022
Published online: May 16, 2022
Core Tip

Core Tip: Porokeratosis is a rare, acquired, or inherited disorder of keratinization. The coexistence of disseminated superficial actinic porokeratosis (DSAP) and porokeratosis ptychotropica (Ppt) is rare. We present an unusual case of DSAP coexisting with Ppt and identified a novel mevalonate kinase (MVK) gene mutation in this patient’s family. To date, only four cases of DSAP coexisting with Ppt have been reported in the English literature. One case also had an MVK gene mutation. Thus, mutation of phosphomevalonate kinase pathway genes, especially the MVK gene, may have an important role in the pathogenesis of DSAP coexisting with Ppt.