ArticleClinical, cosmetic and investigational dermatology2023
Case Report: A Novel MVK Missense Mutation in the Sporadic Porokeratosis Ptychotropica in China.
Article in Clinical, cosmetic and investigational dermatology, 2023. 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, 3 citations in OpenAlex.
- Transcriptomic and proteomic analysis of MVK variant sites in two subtypes of porokeratosis.Journal of applied genetics · 2026Article
- Rupioid Porokeratosis on the Lower Leg: An Unprecedented Case Report.Clinical, cosmetic and investigational dermatology · 2026Article
- Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant.Frontiers in pediatrics · 2026Article
- Genitogluteal Porokeratoses: A Case Series of a Rare Entity.Indian dermatology online journal · 2025Article
- Porokeratoses-A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants.Metabolites · 2023Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Porokeratosis ptychotropica (PPt) is a rare type of porokeratosis (PK) characterized by pruritic, reddish-brownish verrucous papules, and plaques usually around genital area or buttocks. Here, a case of a 70-year-old woman who was diagnosed as PPt was reported. The patient suffered from severe pruritic papules and plaques in the buttock region and pubis for 4 years. The skin lesions were giant, well-defined brown plaques with many satellite papules scattered around. Both clinical manifestations and histopathological features supported the diagnosis of PPt. In review of the identified mutation was found in patients with disseminated superficial actinic porokeratosis (DSAP) combined with PPt, while its unclear in PPt. To investigate the hypothesis that the variant reported in the present case report may played as an independent "likely pathogenic factor" of PPt. Consequently, a de novo missense pathogenic mutation in the MVK gene was identified in this case. Unexpectedly, it is a first report of a novel MVK mutation in sporadic PPt. This rare case suggested an isogenetic background between PPt and DSAP, which may help to explore the underlying pathogenesis of PPt.
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