Indian Journal of Dermatology
  Publication of IADVL, WB
  Official organ of AADV
Indexed with Science Citation Index (E) , Web of Science and PubMed
 
Users online: 1973  
Home About  Editorial Board  Current Issue Archives Online Early Coming Soon Guidelines Subscriptions  e-Alerts    Login  
    Small font sizeDefault font sizeIncrease font size Print this page Email this page
ORIGINAL ARTICLE
Year : 2021  |  Volume : 66  |  Issue : 2  |  Page : 126-131

Mutation analysis of the MVD gene in a chinese family with disseminated superficial actinic porokeratosis and a chinese literature review


1 Department of Dermatology at First Hospital, Institute of Dermatology, Anhui Medical University, Hefei, Anhui; Department of Dermatology, Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
2 Department of Dermatology at First Hospital, Institute of Dermatology, Anhui Medical University, Hefei, Anhui; Department of Dermatology, Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education; Department of Dermatology, Anhui Province Key Laboratory of Major Autoimmune Disease, Hefei, China

Correspondence Address:
Liangdan Sun
Department of Dermatology, Institute of Dermatology, The First Affiliated Hospital in Anhui Medical University, Hefei 230032
China
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijd.IJD_226_18

Rights and Permissions

Background: Porokeratosis (PK) is a rare, heterogeneous group of keratinization disorders with an autosomal dominant inheritance pattern and is characterized by the presence of cornoid lamella. Disseminated superficial actinic PK is the most encountered subtype and typically manifests as multiple, small annular plaques with atrophic centers and slightly raised hyperkeratotic edges. Seven associated mutations (SSH1, SART3, MVKP, MVK, MVD, FDPS, and SLC17A9) have been reported in disseminated superficial actinic PK patients. Aim: We searched a Chinese disseminated superficial porokeratosis (DSAP) family to detect the causative genes. In the meantime, we reviewed the articles reported about DSAP in Chinese population, summarizing their clinical manifestations and discussing the incidence of DSAP in Chinese population. Materials and Methods: Sanger sequencing on the MVD and MVK genes was performed to identify the pathogenic mutation in a Chinese family with DSAP. Literature for DSAP cases reported in Chinese populations was searched by Sinomed and PubMed. Results: We identified the c. 875A > G (p. Asn292Ser) mutation in the MVD gene in the family. Conclusions: That mutation was a hotspot mutation. Literature review showed that the age of onset in DSAP family was earlier than that in sporadic patients; the lesion is common in the face in Chinese population which is distinct from studies in Caucasians; ultraviolet exposure is the main aggravating factor.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1652    
    Printed32    
    Emailed0    
    PDF Downloaded61    
    Comments [Add]    

Recommend this journal