Cowden病と結節性硬化症における臨床像と消化管病変

A Clinicopathological Comparative Study of Clinical Features in Cowden's Disease and Tuberous Sclerosis Complex

要旨　当科で経験したCowden病5例と結節性硬化症2例の臨床像について，消化管病変を中心に検討した．Cowden病では食道glycogenic acanthosisを4例，胃に密在する平滑な過誤腫性ポリープを4例，大腸の多発性腺腫を4例，直腸に集蔟する過誤腫性ポリープを3例に認めた．更に，胃inflammatory fibroid polyp，小腸リンパ管腫，大腸神経節神経線維腫など多彩な腫瘍状病変が認められた．結節性硬化症でも食道の微小隆起や胃過誤腫性ポリープ，大腸平滑筋腫，直腸に集蔟する過誤腫性ポリープや腺腫性ポリープを認めた．両疾患はそれぞれ特異的な多臓器病変がみられる一方，類似した消化管病変を有することから，遺伝性過誤腫性消化管ポリポーシスとして共通の病因が存在する可能性が示唆された．

　Clinicopathological features of five patients with Cowden's disease and two with tuberous sclerosis complex (TSC) were retrospectively analyzed, mainly focusing on lesions of the alimentary tract. Gastrointestinal polyposis in Cowden's disease was frequently recognized as occurring anywhere in the alimentary tract, and as comprising various histological features, including esophageal glycogenic acanthosis, hamartomatous or hyperplastic gastric polyposis, and hamartomatous rectal polyposis, all of which seemed to have some similarity to features in TSC. In addition, adenomatous polyps in the colorectum were also found in four patients with Cowden's disease and a relatively young patient with TSC. Gastrointestinal polyposis is one of the significant phenotypes, where there may be possible links between Cowden's disease and TSC, although each of the two diseases is defined as a distinctive clinical entity in the area of extra-gastrointestinal involvement.