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大学・研究所にある論文を検索できる 「Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome」の論文概要。リケラボ論文検索は、全国の大学リポジトリにある学位論文・教授論文を一括検索できる論文検索サービスです。
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Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome

Kaibuchi-Ando, Kaori Takeichi, Takuya Ito, Yasutoshi Takeuchi, So Yamashita, Yuta Yamada, Motohito Muro, Yoshinao Ogi, Tomoo Akiyama, Masashi 名古屋大学

2021.05

概要

Basal cell nevus syndrome (BCNS) is an autosomal dominant skin disorder characterized by multiple basal cell nevi. Patients with BCNS tend to develop basal cell carcinoma (BCC) and frequently show skeletal abnormalities. Most cases of BCNS are caused by mutations in patched 1 (PTCH1). PTCH1 encodes a transmembrane receptor protein for the secreted molecule sonic hedgehog, which plays a key role in the development of animals ranging from insects to mammals. We analyzed two Japanese BCNS patients from two independent families. Both of our patients had multiple jaw keratocysts. In one patient, these were the key to noticing his BCNS, as he had no skin tumors. The early detection of PTCH1 mutations would enable BCNS patients to be carefully followed up for the occurrence of BCC. The diagnosis of BCC at the early stage leads to prompt surgical treatments, resulting in a good prognosis. The present cases suggest that keratocysts of the jaw might be an important clue for diagnosing BCNS.

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参考文献

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