Araujo Leonardo de Jesus, Lima Leonardo Santos, Alvarenga Tassiana Mota Mourão, Martelli-Júnior Hercílio, Coletta Ricardo Della, de Aquino Sibele Nascimento, Bonan Paulo Rogério Ferreti
Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011 Jan;111(1):87-94. doi: 10.1016/j.tripleo.2010.07.002. Epub 2010 Nov 4.
The objective of this study was to describe the pattern of inheritance and the clinical features in a large family with tuberous sclerosis (TS), and to focus on the general diagnosis after the initial oral examination.
To characterize the pattern of inheritance and the clinical features, 61 familial members were systematically evaluated, including dermatologic, ophthalmologic, and orofacial examination. Imaging exams, such as abdomen ultrasonography, echocardiogram, fundoscopy, cranial cone-beam computerized tomography, and brain magnetic resonance, were performed. Hematoxylin and eosin stain and scanning electronic microscopy were performed to characterize TS-associated alterations in the teeth, nails, and hair.
The pedigree of the family was constructed including the 4 last generations and revealed nonconsanguineous marriages and an autosomal dominant mode of TS transmission. We identified 13 family members affected by TS, with 6 of them completely fulfilling the diagnostic criteria of this disorder. Hypomelanotic macules in the skin, facial angiofibromas, and dental enamel pits were the most common features of affected patients. Central nervous system alterations were identified in 5 family members, whereas cardiac and renal alterations were found in 1 member each.
We emphasize, in this study, the importance of oral findings such as dental enamel pits and gingival angiofibromas in the early diagnosis of familial TS which led to complete familial profile and pattern of inheritance establishment.
本研究的目的是描述一个患有结节性硬化症（TS）的大家庭的遗传模式和临床特征，并着重于初次口腔检查后的综合诊断。
为了明确遗传模式和临床特征，对61名家族成员进行了系统评估，包括皮肤科、眼科和口腔颌面检查。进行了腹部超声、超声心动图、眼底镜检查、头颅锥形束计算机断层扫描和脑部磁共振成像等影像学检查。采用苏木精-伊红染色和扫描电子显微镜检查来描述TS相关的牙齿、指甲和毛发改变。
构建了该家族包括最后4代的系谱，显示为非近亲结婚且TS呈常染色体显性遗传模式。我们确定了13名受TS影响的家族成员，其中6名完全符合该疾病的诊断标准。皮肤色素减退斑、面部血管纤维瘤和牙釉质凹陷是受影响患者最常见的特征。5名家族成员存在中枢神经系统改变，而心脏和肾脏改变各在1名成员中发现。
在本研究中，我们强调了牙釉质凹陷和牙龈血管纤维瘤等口腔表现对于家族性TS早期诊断的重要性，这有助于建立完整的家族概况和遗传模式。
