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- Title
Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome.
- Authors
Carmignac, V.; Salomon, G.; Severino‐Freire, M.; Duffourd, Y.; Chevarin, M.; Vabres, P.; Mazereeuw‐Hautier, J.
- Abstract
Dear Editor, Naevus comedonicus (NC) is a rare type of organoid epidermal naevus with comedones and inflammatory cysts that may be associated with extracutaneous manifestations (cataract; neurological and skeletal anomalies), defining NC syndrome.1 Acne naevus, a clinically similar mosaic skin condition, is related to the fibroblast growth factor receptor 2 gene ( I FGFR2 i ),2 whereas postzygotic mutations in NIMA related kinase 9 ( I NEK9 i ) have been identified in four patients with NC so far, including only one with NC syndrome.3,4 Here we report on novel clinical findings, fibrous dysplasia and premature puberty in a case of NC syndrome associated with a I NEK9 i mutation. Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
- Subjects
PRECOCIOUS puberty; NEVUS; DYSPLASIA; FIBROBLAST growth factor 2; GENETIC mutation; FIBROBLAST growth factor receptors
- Publication
British Journal of Dermatology, 2021, Vol 185, Issue 6, p1247
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/bjd.20603