Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in nevus comedonicus syndrome.

Date publication

juin 2021

Journal

The British journal of dermatology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr VABRES Pierre

Tous les auteurs :
Carmignac V, Salomon G, Severino-Freire M, Duffourd Y, Chevarin M, Vabres P, Mazereeuw-Hautier J

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/34184242

Résumé

Nevus comedonicus (NC) is a rare type of organoid epidermal nevus with comedones and inflammatory cysts . It may be associated with extracutaneous manifestations (cataract, neurological and skeletal anomalies), defining NC syndrome . Acne nevus, a clinically similar mosaic skin condition, is related to FGFR2, whereas postzygotic NEK9 mutations have been identified in four NC patients so far, including only one with NC syndrome . Here we report on novel clinical findings, fibrous dysplasia and premature puberty in a case of NC syndrome associated with a NEK9 mutation.

Référence

Br J Dermatol. 2021 Jun 29;: