Noonan syndrome-like disorder: Case report and review of the literature.

Autor: Mar K; Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Lam JM; Department of Paediatrics, University of British Columbia, Vancouver, British Columbia, Canada.; Dermatology and Skin Science, University of British Columbia, Vancouver, British Columbia, Canada.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2024 Nov-Dec; Vol. 41 (6), pp. 1203-1210. Date of Electronic Publication: 2024 Jul 30.
DOI: 10.1111/pde.15696
Abstrakt: Of patients with a Noonan syndrome phenotype, only about 1% are found to be related to pathological variants in CBL, also known as Noonan syndrome-like disorder (NSLD). We present a case of a 4-year-old boy diagnosed with NSLD, presenting with multiple melanocytic nevi and superficial neurofibromas. A literature review identified common cutaneous findings of NSLD, for example, café-au-lait macules (22%), juvenile xanthogranuloma (16%), and thin hair (10%). As there are no documented cases of neurofibromas associated with NSLD, and only a single report of multiple melanocytic nevi, inclusion of these features in the phenotype may be warranted and mitigate the necessity for future biopsies in other children.
(© 2024 The Author(s). Pediatric Dermatology published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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