Nevoid basal cell carcinoma syndrome—case report and genetic study
Nevoid basal cell carcinoma syndrome (also named Gorlin-Goltz syndrome) is a rare disease. Commonly seen features include multiple odontogenic keratocysts (OKCs), nevus-like basal cell carcinoma, and bifid ribs. Genetic alterations of the PTCH1 gene are associated with the disease. Herein, we report...
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| Format: | Article |
| Language: | English |
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Elsevier
2010-09-01
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| Series: | Journal of Dental Sciences |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1991790210600244 |
| _version_ | 1819110232798789632 |
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| author | Yu-Feng Huang Yi-Juai Chen Hui-Wen Yang |
| author_facet | Yu-Feng Huang Yi-Juai Chen Hui-Wen Yang |
| author_sort | Yu-Feng Huang |
| collection | DOAJ |
| description | Nevoid basal cell carcinoma syndrome (also named Gorlin-Goltz syndrome) is a rare disease. Commonly seen features include multiple odontogenic keratocysts (OKCs), nevus-like basal cell carcinoma, and bifid ribs. Genetic alterations of the PTCH1 gene are associated with the disease. Herein, we report the case of a 15-year-old girl who presented with multiple OKCs, a bifid rib, ectopic calcification of the falx cer-ebri, and an arachnoid cyst of the cerebrum. No basal cell carcinoma was identified. In addition, a search for genetic alterations was performed on the patient. We identified a genetic mutation of C→T in exon 12 (c.1686 bp) and a G→C mutation in intron 13 (g.91665 bp) of the PTCH1 gene. Although a similar mutation in exon 12 was reported in a literature search, the mutation in intron 13 has not previously been reported. The patient has continued to be followed-up almost 3 years after the surgery with no recurrence of the OKCs or development of basal cell carcinoma. |
| first_indexed | 2024-12-22T03:38:27Z |
| format | Article |
| id | doaj.art-39cccb23e35f43aa9656c85181b05981 |
| institution | Directory Open Access Journal |
| issn | 1991-7902 |
| language | English |
| last_indexed | 2024-12-22T03:38:27Z |
| publishDate | 2010-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Dental Sciences |
| spelling | doaj.art-39cccb23e35f43aa9656c85181b059812022-12-21T18:40:18ZengElsevierJournal of Dental Sciences1991-79022010-09-015316617010.1016/S1991-7902(10)60024-4Nevoid basal cell carcinoma syndrome—case report and genetic studyYu-Feng Huang0Yi-Juai Chen1Hui-Wen Yang2Department of Oral and Maxillofacial Surgery, Chung Shan Medical University Hospital, Taichung, TaiwanDepartment of Oral and Maxillofacial Surgery, Chung Shan Medical University Hospital, Taichung, TaiwanCollege of Oral Medicine, Chung Shan Medical University, Taichung, TaiwanNevoid basal cell carcinoma syndrome (also named Gorlin-Goltz syndrome) is a rare disease. Commonly seen features include multiple odontogenic keratocysts (OKCs), nevus-like basal cell carcinoma, and bifid ribs. Genetic alterations of the PTCH1 gene are associated with the disease. Herein, we report the case of a 15-year-old girl who presented with multiple OKCs, a bifid rib, ectopic calcification of the falx cer-ebri, and an arachnoid cyst of the cerebrum. No basal cell carcinoma was identified. In addition, a search for genetic alterations was performed on the patient. We identified a genetic mutation of C→T in exon 12 (c.1686 bp) and a G→C mutation in intron 13 (g.91665 bp) of the PTCH1 gene. Although a similar mutation in exon 12 was reported in a literature search, the mutation in intron 13 has not previously been reported. The patient has continued to be followed-up almost 3 years after the surgery with no recurrence of the OKCs or development of basal cell carcinoma.http://www.sciencedirect.com/science/article/pii/S1991790210600244mutationnevoid basal cell carcinomaodontogenic keratocystPTCH |
| spellingShingle | Yu-Feng Huang Yi-Juai Chen Hui-Wen Yang Nevoid basal cell carcinoma syndrome—case report and genetic study Journal of Dental Sciences mutation nevoid basal cell carcinoma odontogenic keratocyst PTCH |
| title | Nevoid basal cell carcinoma syndrome—case report and genetic study |
| title_full | Nevoid basal cell carcinoma syndrome—case report and genetic study |
| title_fullStr | Nevoid basal cell carcinoma syndrome—case report and genetic study |
| title_full_unstemmed | Nevoid basal cell carcinoma syndrome—case report and genetic study |
| title_short | Nevoid basal cell carcinoma syndrome—case report and genetic study |
| title_sort | nevoid basal cell carcinoma syndrome case report and genetic study |
| topic | mutation nevoid basal cell carcinoma odontogenic keratocyst PTCH |
| url | http://www.sciencedirect.com/science/article/pii/S1991790210600244 |
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