@article{oai:nagoya.repo.nii.ac.jp:02001174,
 author = {Kaibuchi-Ando, Kaori and Takeichi, Takuya and Ito, Yasutoshi and Takeuchi, So and Yamashita, Yuta and Yamada, Motohito and Muro, Yoshinao and Ogi, Tomoo and Akiyama, Masashi},
 issue = {2},
 journal = {Nagoya Journal of Medical Science},
 month = {May},
 note = {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). PTCH1encodes 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 PTCH1mutations 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.},
 pages = {393--396},
 title = {Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome},
 volume = {83},
 year = {2021}
}