Xu Hong-Jun, Wen Guang-Dong
Department of Dermatology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
Department of Dermatology, Peking University People's Hospital, Peking University, Beijing 100044, China.
World J Clin Cases. 2022 May 16;10(14):4528-4534. doi: 10.12998/wjcc.v10.i14.4528.
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.
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.
An unusual case of DSAP coexisting with Ppt harbored a novel MVK gene mutation also present in the patient's family.
汗孔角化症是一种罕见的、后天获得性或遗传性角化异常疾病。汗孔角化症有多种临床类型，可在同一患者或受影响家族的多名成员中同时存在。然而，播散性浅表性光化性汗孔角化症（DSAP）和褶叠性汗孔角化症（Ppt）同时存在的情况较为罕见。
一名45岁男性因长期存在皮肤病变前来就诊。体格检查发现其面部有许多2毫米至4毫米大小的褐色小斑块，躯干和四肢有几个角化过度的疣状斑块。他的父亲和一个兄弟多年来也有类似病变。皮肤活检显示表皮有鸡眼样板。我们在甲羟戊酸激酶（MVK）基因中发现了c.155G>A突变，该突变将一个丝氨酸残基转换为天冬酰胺（p.Ser52Asn），是这个家族汗孔角化症的致病原因。做出了DSAP和Ppt伴新的MVK基因突变的临床病理诊断。使用微波刀对患者阴囊上的角化过度斑块进行了10多次完全切除。
一例罕见的DSAP与Ppt共存病例携带一种新的MVK基因突变，该突变也存在于患者家族中。
