2024-03-29T15:03:06Z
https://nagoya.repo.nii.ac.jp/oai
oai:nagoya.repo.nii.ac.jp:02001174
2023-11-16T02:05:04Z
499:508:509:1624513305190
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
basal cell nevus syndrome
mutation
PTCH1
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.
departmental bulletin paper
Nagoya University Graduate School of Medicine, School of Medicine
2021-05
application/pdf
Nagoya Journal of Medical Science
2
83
393
396
0027-7622
2186-3326
https://nagoya.repo.nii.ac.jp/record/2001174/files/20_Kaibuchi.pdf
eng
https://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/832.html
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