PDF(Pubmed)
Abstract：
Gorlin-Goltz syndrome is a hereditary autosomal dominant condition with high penetrance and varied phenotypic expressiveness that can appear spontaneously. It is estimated that between 30% and 50% of people with this disease do not know if any of their family members have had it. Patched (PTCH), a tumor suppressor gene found on the 9q22.3 chromosome, has been identified as the cause of Gorlin-Goltz syndrome. This case emphasizes the necessity of awareness of this uncommon illness in young people who do not have any skin blemishes. Due to the severity of clinical manifestations, early identification of the illness and a long follow-up time are critical. Furthermore, a multidisciplinary team consisting of a dentist, dermatologist, geneticist, and neurologist, is necessary to improve overall survival rates. Gorlin-Goltz syndrome is inherited as an autosomal dominant disease. In almost 50% of cases, many people do not know whether they have a positive family history. It is not always present with basal cell epitheliomas or skin manifestation.
摘要：
Gorlin-Goltz综合征是一种遗传性常染色体显性疾病，具有高外显率和可自发出现的各种表型表达。据估计，30％至50％的患有这种疾病的人不知道他们的家庭成员是否患有这种疾病。已修补(PTCH),在9q22.3染色体上发现的抑癌基因，已被确定为Gorlin-Goltz综合征的病因.这个案例强调了在没有任何皮肤瑕疵的年轻人中认识这种罕见疾病的必要性。由于临床表现的严重程度，疾病的早期识别和长期随访至关重要.此外，由牙医组成的多学科团队，皮肤科医生,遗传学家,和神经科医生,是提高整体生存率所必需的。Gorlin-Goltz综合征是一种常染色体显性遗传疾病。在几乎50%的案例中,许多人不知道他们是否有积极的家族史。并不总是存在基底细胞上皮瘤或皮肤表现。
