Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in nevus comedonicus syndrome.
Fiche publication
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
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;: