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Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome
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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nagoya University
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236691/ https://www.ncbi.nlm.nih.gov/pubmed/34239189 http://dx.doi.org/10.18999/nagjms.83.2.393 |
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author | Kaibuchi-Ando, Kaori Takeichi, Takuya Ito, Yasutoshi Takeuchi, So Yamashita, Yuta Yamada, Motohito Muro, Yoshinao Ogi, Tomoo Akiyama, Masashi |
author_facet | Kaibuchi-Ando, Kaori Takeichi, Takuya Ito, Yasutoshi Takeuchi, So Yamashita, Yuta Yamada, Motohito Muro, Yoshinao Ogi, Tomoo Akiyama, Masashi |
author_sort | Kaibuchi-Ando, Kaori |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8236691 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Nagoya University |
record_format | MEDLINE/PubMed |
spelling | pubmed-82366912021-07-07 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 Nagoya J Med Sci Case Report 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. Nagoya University 2021-05 /pmc/articles/PMC8236691/ /pubmed/34239189 http://dx.doi.org/10.18999/nagjms.83.2.393 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ). |
spellingShingle | Case Report Kaibuchi-Ando, Kaori Takeichi, Takuya Ito, Yasutoshi Takeuchi, So Yamashita, Yuta Yamada, Motohito Muro, Yoshinao Ogi, Tomoo Akiyama, Masashi Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome |
title | Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome |
title_full | Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome |
title_fullStr | Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome |
title_full_unstemmed | Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome |
title_short | Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome |
title_sort | odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236691/ https://www.ncbi.nlm.nih.gov/pubmed/34239189 http://dx.doi.org/10.18999/nagjms.83.2.393 |
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