节段性神经纤维瘤病的遗传咨询

Genetic counseling in segmental neurofibromatosis.

作者信息

Sloan J B, Fretzin D F, Bovenmyer D A

机构信息

Division of Dermatology, Michael Reese Hospital and Medical Center, Chicago, IL 60616.

出版信息

J Am Acad Dermatol. 1990 Mar;22(3):461-7. doi: 10.1016/0190-9622(90)70065-p.

DOI:10.1016/0190-9622(90)70065-p

PMID:2107218

Abstract

We report two patients with segmental neurofibromatosis and review the literature with regard to possible hereditary transmission of this disorder. Patients that meet strict criteria for the diagnosis of segmental neurofibromatosis seem to have a low probability of transmitting the disease. We emphasize the importance of establishing and strictly adhering to a set of diagnostic criteria and of obtaining a comprehensive family history when reporting cases of segmental neurofibromatosis.

摘要

我们报告了两名节段性神经纤维瘤病患者，并回顾了关于这种疾病可能的遗传传递的文献。符合节段性神经纤维瘤病严格诊断标准的患者似乎疾病遗传概率较低。我们强调在报告节段性神经纤维瘤病病例时，建立并严格遵守一套诊断标准以及获取全面家族史的重要性。