Case Report: A Novel MVK Missense Mutation in the Sporadic Porokeratosis Ptychotropica in China.
MVK
PPt
genetic testing
mevalonate pathway
missense mutations
Journal
Clinical, cosmetic and investigational dermatology
ISSN: 1178-7015
Titre abrégé: Clin Cosmet Investig Dermatol
Pays: New Zealand
ID NLM: 101543449
Informations de publication
Date de publication:
2023
2023
Historique:
received:
10
02
2023
accepted:
10
05
2023
medline:
30
5
2023
pubmed:
30
5
2023
entrez:
30
5
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37250911
doi: 10.2147/CCID.S408016
pii: 408016
pmc: PMC10224681
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1325-1329Informations de copyright
© 2023 Mei et al.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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