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Gorlin syndrome: A rare case report
Sandhya Shrivastava, Sushruth Nayak, Prachi Nayak, Sourabh SahuJournal of Oral and Maxillofacial Pathology 2020 24(3):591-592 Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in PTCH, a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. It is observed that most aggressive forms of keratocystic odontogenic tumor are the first signs of this syndrome which show a high recurrence rate due to its varied histopathological features. The other components are multiple basal cell carcinomas of the skin, intracr...
Source: Journal of Oral and Maxillofacial Pathology - January 9, 2021 Category: ENT & OMF Authors: Sandhya Shrivastava Sushruth Nayak Prachi Nayak Sourabh Sahu Source Type: research

Gorlin-Goltz syndrome with familial manifestation.
CONCLUSIONS: With regard to the possibility of familial occurrence of NBCCS, it is necessary to pay increased attention to family history and, if necessary, to ensure clinical and genetic examination of parents and other family members. Patients of childbearing potential with evidence of NBCCS should be informed of the increased likelihood of the disease in the offspring. PMID: 33542540 [PubMed - as supplied by publisher]
Source: Biomedical Papers of the Medical Faculty of the Univ Palacky Olomouc Czech Repub - February 8, 2021 Category: Biomedical Science Tags: Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub Source Type: research

075 PTCH1 mutations in high-frequency basal cell carcinoma patients without Gorlin stigmata
Gorlin syndrome is an autosomal dominant disorder characterized by tumor preponderance and developmental defects. Diagnosis is traditionally made based on clinical criteria, including the presence of major features, such as multiple basal cell carcinomas (BCCs), palmar and plantar pits, jaw keratocysts, and falcine calcification, as well as minor features, including skeletal and radiologic abnormalities. Gorlin syndrome is predominantly caused by mutations in patched 1 (PTCH1), a tumor suppressor gene in the hedgehog signaling pathway.
Source: Journal of Investigative Dermatology - April 19, 2021 Category: Dermatology Authors: V.J. Hua, W.H. Chan, G.H. Cho, H. Do, I. Bailey, A. Oro, J. Tang, K.Y. Sarin Tags: Carcinogenesis and Cancer Genetics Source Type: research

Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation
We reported a fetus diagnosed with Meier-Gorlin syndrome 7. The antenatal sonographic images were presented, and compound heterozygous mu...
Source: BMC Pregnancy and Childbirth - May 17, 2021 Category: OBGYN Authors: Xia Li, Lan-Zhen Zhang, Lin Yu, Zhao-Lua Long, An-Yun Lin and Chen-Yu Gou Tags: Case report Source Type: research

Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones
Gorlin syndrome, also known as Gorlin-Goltz syndrome (GGS) or basal cell nevus syndrome (BCNS) or nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant familial cancer syndrome. It is characte...
Source: Maxillofacial Plastic and Reconstructive Surgery - July 18, 2022 Category: ENT & OMF Authors: Francesco Spadari, Federica Pulicari, Matteo Pellegrini, Andrea Scribante and Umberto Garagiola Tags: Review Source Type: research

Unusual keratocyst causing erosion of the orbital floor in gorlin syndrome
Odontogenic keratocysts are major criteria in the diagnosis of Gorlin syndrome and can occur on both jaws, achieving great proportions without intervention. The occurrence of a keratocyst extending to the orbital floor has not been reported in the literature so far. In 2019, a 43-year-old female with the diagnosis of Gorlin syndrome and previous jaw surgical interventions presented with an extensive cystic lesion in the left maxilla leading to bone reabsorption of the orbital floor without ocular symptoms.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Priscila Abranches De Britto Pinheiro, L ígia Gabrielle Sanches Mariotto, André Caroli Rocha Source Type: research

Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review
ConclusionGorlin-Goltz syndrome-associated congenital medulloblastoma with SUFU germline mutation is very rare. Pathological types mostly involve desmoplastic/nodular or extensive nodularity; chemotherapy is the main treatment, and studies revealing prognostic data are scarce.
Source: Frontiers in Oncology - October 12, 2022 Category: Cancer & Oncology Source Type: research

Bilateral ovarian fibromas in premenarchal girl with Gorlin-Goltz syndrome
Ovarian fibromas in children are atypical, in approximately 10% of the cases they are reported as bilateral. In premenarchal females can be a manifestation of Gorlin-Goltz syndrome, rare autosomal dominant disorder (1/60.000) with multisystemic developmental abnormalities, caused by mutations of the PTCH1 gene.A notable case of an eight-year-old female with Gorlin-Goltz syndrome and bilateral ovarian fibromas is presented. At the age of 11 months, she was diagnosed with desmoplastic medulloblastoma.
Source: Journal of Pediatric and Adolescent Gynecology - March 11, 2023 Category: OBGYN Authors: Marina Jakimovska Stefanovska, Jure Gruntar, Lidija Kitanoski Source Type: research

39. Ovarian Fibromas in Adolescents with Gorlin Syndrome: A Case Series
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder characterized by a predisposition to various benign and malignant tumors, including ovarian fibromas. The purpose of this study is to report the presentation and management of patients with Gorlin Syndrome and ovarian fibromas at a single institution.
Source: Journal of Pediatric and Adolescent Gynecology - March 11, 2023 Category: OBGYN Authors: Danielle Cipres, Jessica Y. Shim Source Type: research

Gorlin-Goltz Syndrome: A Case Report and Literature Review with < em > PTCH1 < /em > Gene Sequencing
Arch Plast Surg. 2023 Aug 2;50(4):384-388. doi: 10.1055/a-2096-3536. eCollection 2023 Jul.ABSTRACTGorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 ( PTCH1 ) gene variants and/or SUFU gene variants. The presence of either two main criteria or one major and two minor criteria are required for the diagnosis of Gorlin-Goltz syndrome. Recently, a major criterion for molecular confirmation has also been proposed. In this article, we report the case of an 80-year-old male ...
Source: Archives of Plastic Surgery - August 11, 2023 Category: Cosmetic Surgery Authors: Hyo Seong Kim Seung Heo Kyung Sik Kim Joon Choi Jeong Yeol Yang Source Type: research