A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1.

1 例神经纤维瘤病 1 例。

• 发表时间: Jan 2019
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.1908
• PMID: 30656042
• 文章类型: Case Reports
• 作者列表: Boulier K,Erwin DJ,Nagamani S,Eble TN

关键词: PTEN hamartoma syndrome; colonic polyposis; dual diagnosis; hamartomatous polyps; hereditary polyposis syndrome; juvenile polyposis syndrome; neurofibromatosis type 1

Abstract

Even in well-described genetic syndromes, such as neurofibromatosis type 1, expansion of the phenotype should be considered as a possible explanation for atypical presentations. However, it is critical to complete the evaluation for a potential dual diagnosis, as there could be significant prognostic and management implications.

摘要

即使在描述良好的遗传综合征中，如1型神经纤维瘤病,表型的扩大应被视为非典型表现的可能解释.然而,完成潜在双重诊断的评估至关重要，因为可能有重大的预后和管理意义。