{Reference Type}: Case Reports
{Title}: Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey.
{Author}: Friedrich RE;Gosau M;Luebke AM;Hagel C;Kohlrusch FK;Hahn M;VON Kroge S;Hahn J;Wieland I;Zenker M;
{Journal}: In Vivo
{Volume}: 36
{Issue}: 1
{Year}: Jan-Feb 2022
{Factor}: 2.406
{DOI}: 10.21873/invivo.12701
{Abstract}: OBJECTIVE: The aim of this study was to present the long-term course of a patient with nevus sebaceous syndrome (NSS). Recent genetic studies place the syndrome in the emerging group of so-called RASopathies. The focus of the report is on surgical treatment and morphological and genetic findings of the face and oral cavity.
METHODS: A female patient was treated for congenital alterations of facial skin and oral mucosa. The oral lesions were removed repeatedly. Eruption of teeth on the lesion sites was made easier by the measures taken. However, after repeated ablation of the affected gingiva, the periodontal papillomatous epithelium re-differentiated into the same reddish, conspicuous, hyperplastic epithelium. The teeth in the affected region showed noticeable changes in position, surface, and shape. A HRAS mutation was detected only in the regions of altered oral epithelia and not in adjacent soft tissues.
CONCLUSIONS: Reports on NSS rarely address oral manifestations. The recorded alterations of oral soft and hard tissues in NSS indicate a topographical relationship between the development of oral mucosa and teeth as well as the long-lasting impact of a sporadic mutation on organ development at this site.