ArticleIndian journal of dermatology
Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.
Article in Indian journal of dermatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Transcriptomic and proteomic analysis of MVK variant sites in two subtypes of porokeratosis.Journal of applied genetics · 2026Article
- Identification of two novelFrontiers in medicine · 2026Article
- Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis.Clinical, cosmetic and investigational dermatology · 2024Article
- Porokeratoses-A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants.Metabolites · 2023Review
- An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.Molecular syndromology · 2022Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPorokeratosis (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 (
aimWe 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
methodsSanger sequencing on the
resultsWe identified the c. 875A > G (p. Asn292Ser) mutation in the
conclusionsThat 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.
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