戈林综合征与双侧卵巢纤维瘤。
Gorlin syndrome and bilateral ovarian fibroma.
作者信息
Pirschner Fernanda, Bastos Pollyana Marçal, Contarato George Luiz, Bimbato Anna Carolina Bon Lima, Filho Antônio Chambô
机构信息
Hospital Santa Casa de Misericórdia de Vitória, Vitória, ES, Brazil.
出版信息
Int J Surg Case Rep. 2012;3(9):477-80. doi: 10.1016/j.ijscr.2012.05.015. Epub 2012 Jun 2.
INTRODUCTION
Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders.
PRESENTATION OF CASE
To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma.
DISCUSSION
A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region.
CONCLUSION
Gorlin-Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary.
引言
戈林综合征（GS），也称为痣样基底细胞癌综合征（NBCCS），是一种罕见的遗传性常染色体显性疾病，会影响多个系统。据估计，其在人群中的患病率为1/57,000至1/256,000。其特征包括基底细胞癌、多个牙源性角化囊肿、骨骼异常和卵巢纤维瘤等多种病症。
病例介绍
报告一例患有戈林综合征和双侧卵巢纤维瘤的年轻患者。
讨论
一名20岁的戈林综合征患者表现为面部不对称、宽鼻根、牙齿异常、小颌畸形、会聚性斜视、躯干和面部有多个色素沉着病变、漏斗胸、脊柱侧弯以及腹部可触及的肿块占据整个盆腔区域。
结论
戈林 - 戈尔茨综合征是一种遗传性疾病，包括众多临床表现。诊断依靠临床症状，无需基因确诊。
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