HRAS-related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects.

Autor: Beyens A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.; Department of Dermatology, Ghent University Hospital, Ghent, Belgium., Lietaer C; Department of Otorhinolaryngology, AZ Sint Jan Brugge-Oostende, Bruges, Belgium., Claes K; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium., De Baere E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium., Goeteyn M; Department of Dermatology, AZ Sint Jan Brugge-Oostende, Bruges, Belgium., Lerut B; Department of Otorhinolaryngology, AZ Sint Jan Brugge-Oostende, Bruges, Belgium., Syryn H; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium., Vanakker O; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium., Van der Meulen J; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.; Molecular Diagnostics Ghent University Hospital (MDG), Ghent University Hospital, Ghent, Belgium., Vanwalleghem L; Department of Pathology, AZ Sint Jan Brugge-Oostende, Bruges, Belgium., Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2023 Jun; Vol. 103 (6), pp. 709-713. Date of Electronic Publication: 2023 Mar 10.
DOI: 10.1111/cge.14323
Abstrakt: Epidermal nevus syndrome (ENS) comprises a heterogeneous group of neurocutaneous syndromes associated with the presence of epidermal nevi and variable extracutaneous manifestations. Postzygotic activating HRAS pathogenic variants were previously identified in nevus sebaceous (NS), keratinocytic epidermal nevus (KEN), and different ENS, including Schimmelpenning-Feuerstein-Mims and cutaneous-skeletal-hypophosphatasia syndrome (CSHS). Skeletal involvement in HRAS-related ENS ranges from localized bone dysplasia in association with KEN to fractures and limb deformities in CSHS. We describe the first association of HRAS-related ENS and auricular atresia, thereby expanding the disease spectrum with first branchial arch defects if affected by the mosaic variant. In addition, this report illustrates the first concurrent presence of verrucous EN, NS, and nevus comedonicus (NC), indicating the possibility of mosaic HRAS variation as an underlying cause of NC. Overall, this report extends the pleiotropy of conditions associated with mosaic pathogenic variants in HRAS affecting ectodermal and mesodermal progenitor cells.
(© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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