Xu HJ, Wen GD. Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report. World J Clin Cases 2022; 10(14): 4528-4534 [PMID: 35663074 DOI: 10.12998/wjcc.v10.i14.4528]
Corresponding Author of This Article
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
Research Domain of This Article
Dermatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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 Processing time: 286 Days and 16.3 Hours
Abstract
BACKGROUND
Porokeratosis is a rare, acquired, or inherited disorder of keratinization. There are numerous clinical types of porokeratosis and they can coexist in one patient and multiple members of an affected family. However, coexistence of disseminated superficial actinic porokeratosis (DSAP) and porokeratosis ptychotropica (Ppt) is rare.
CASE SUMMARY
A 45-year-old man presented with long-standing skin lesions. Physical examination identified numerous small, brown 2-mm to 4-mm patches on his face and several hyperkeratotic, verrucous plaques on his trunk and extremities. His father and one of his brothers also had similar lesions for years. Skin biopsies indicated a cornoid lamella in the epidermis. We identified c.155G>A mutation in the mevalonate kinase (MVK) gene, which converted a serine residue to asparagine (p.Ser52Asn) and was causative for porokeratosis in this family. A clinicopathologic diagnosis of DSAP and Ppt with a novel MVK gene mutation was made. The hyperkeratotic plaques on the patient’s scrotum were completely removed more than 10 times using a microwave knife.
CONCLUSION
An unusual case of DSAP coexisting with Ppt harbored a novel MVK gene mutation also present in the patient’s family.
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.
