Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany;
Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
In Vivo. 2022 Jan-Feb;36(1):274-293. doi: 10.21873/invivo.12701.
BACKGROUND/AIM: 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.
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.
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.
背景/目的：本研究旨在呈现一位皮脂腺痣综合征（NSS）患者的长期病程。最近的遗传学研究将该综合征归入所谓的 RAS 相关疾病这一新兴群组。本报告的重点是面部和口腔的手术治疗以及形态学和遗传学发现。
一位女性患者因面部皮肤和口腔黏膜的先天性改变而接受治疗。口腔病变被反复切除。所采取的措施使病变部位的牙齿更容易萌出。然而，在反复切除受影响的牙龈后，牙周乳头瘤样上皮重新分化为相同的红色、明显、增生性上皮。受影响区域的牙齿在位置、表面和形状上都有明显的变化。仅在口腔上皮改变区域检测到 HRAS 突变，而在相邻的软组织中未检测到。
关于 NSS 的报告很少涉及口腔表现。NSS 中记录的口腔软硬组织改变表明口腔黏膜和牙齿的发育之间存在局部关系，以及散发性突变对该部位器官发育的持久影响。
