摘要
目的 :报告遗传性多发性外生骨疣 (EXT) 7个家系共 30例患者 ,探讨其遗传性、并发症、治疗及预后。方法 :1978~ 1997年间收治 7例EXT患者 ,均行单纯骨疣切除术 ;并以 7例患者为先证者进行家系调查及随防。结果 :7个家系除家系 2外每代均有患者 ,而且患者的父母至少有一方患病 ,男女性患者比例为 18∶12。 7例先证者经手术治疗后随访 1~ 12年 ,均无复发及恶变。结论 :证实EXT为常染色体显性遗传病 ,本组外显率为 97%。EXT常见并发症为疼痛及肢体畸形 。
Objective:To report 30 affected family members in 7 EXT families and explore the hereditary, complication,treatment and prognosis of EXT.Methods:Retrospectively review 7 probands and 23 of their affected relatives and analyse their pedigrees.All the probands have the operation of simple exostosectomy and their follow_up period varied from 1 year to 12 years.Results:All families have affected member in each generation except No. family.The male to female ratio is 18∶12.All the operated probands have no recurrence and malignancy during follow_up.Conclusion:EXT is an autosomal dominant disorder and the penetrance is 97%in this report.The main complications are pain and limb deformity.Exostosectomy is a satisfactory method of treatment for EXT.