A 10-year follow-up on the chemopreventive role of photodynamic therapy in a Gorlin syndrome patient
Australas J Dermatol. 2022 Oct 12. doi: 10.1111/ajd.13934. Online ahead of print.NO ABSTRACTPMID:36222440 | DOI:10.1111/ajd.13934 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - October 12, 2022 Category: Dermatology Authors: Anthony Thompson Alexzandra Mattia William Harris Green Armand B Cognetta Source Type: research

A 10-year follow-up on the chemopreventive role of photodynamic therapy in a Gorlin syndrome patient
Australas J Dermatol. 2022 Oct 12. doi: 10.1111/ajd.13934. Online ahead of print.NO ABSTRACTPMID:36222440 | DOI:10.1111/ajd.13934 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - October 12, 2022 Category: Dermatology Authors: Anthony Thompson Alexzandra Mattia William Harris Green Armand B Cognetta Source Type: research

A 10-year follow-up on the chemopreventive role of photodynamic therapy in a Gorlin syndrome patient
Australas J Dermatol. 2022 Oct 12. doi: 10.1111/ajd.13934. Online ahead of print.NO ABSTRACTPMID:36222440 | DOI:10.1111/ajd.13934 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - October 12, 2022 Category: Dermatology Authors: Anthony Thompson Alexzandra Mattia William Harris Green Armand B Cognetta Source Type: research

A 10-year follow-up on the chemopreventive role of photodynamic therapy in a Gorlin syndrome patient
Australas J Dermatol. 2022 Oct 12. doi: 10.1111/ajd.13934. Online ahead of print.NO ABSTRACTPMID:36222440 | DOI:10.1111/ajd.13934 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - October 12, 2022 Category: Dermatology Authors: Anthony Thompson Alexzandra Mattia William Harris Green Armand B Cognetta 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)
Source: Frontiers in Oncology - October 12, 2022 Category: Cancer & Oncology Source Type: research

Nervous system (NS) Tumors in Cancer Predisposition Syndromes
AbstractGenetic syndromes which develop one or more nervous system (NS) tumors as one of the manifestations can be grouped under the umbrella term of NS tumor predisposition syndromes. Understanding the underlying pathological pathways at the molecular level has led us to many radical discoveries, in understanding the mechanisms of tumorigenesis, tumor progression, interactions with the tumor microenvironment, and development of targeted therapies. Currently, at least 7 –10% of all pediatric cancers are now recognized to occur in the setting of genetic predisposition to cancer or cancer predisposition syndromes. Specific...
Source: Neurotherapeutics - September 2, 2022 Category: Neurology Source Type: research

Nevoid Basal Cell Carcinoma Syndrome: Clinical Features, Treatment, and Diagnostic Criteria
Abstract: Nevoid basal cell carcinoma syndrome is a rare genetic disorder that has an impact on the body’s organs, such as skin and skeletal. Clinical features, physical and pathological examinations, surgical treatment, and diagnostic criteria have been explicated by means of describing the medical experience of a patient with nevoid basal cell carcinoma syndrome in this report. (Source: Journal of Craniofacial Surgery)
Source: Journal of Craniofacial Surgery - September 1, 2022 Category: Surgery Tags: Brief Clinical Studies Source Type: research

Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome
Gorlin-Goltz syndrome (GGS) or nevoid basal cell carcinoma syndrome is a rare tumour-overgrowth syndrome associated with multiple developmental anomalies and a wide variety of tumours. Here, we describe a case of a man aged 23 years with GGS with bilateral giant tumours adjacent to both adrenals that raised the suspicion of malignancy on imaging. Histological analysis of both surgically resected tumours revealed perivascular epitheloid cell tumours (PEComas) that were independent of the adrenals. Exome sequencing of the patient’s blood sample revealed a novel germline heterozygous frameshift mutation in the PTCH1 gen...
Source: Journal of Medical Genetics - August 19, 2022 Category: Genetics & Stem Cells Authors: Igaz, P., Toth, G., Nagy, P., Dezso, K., Turai, P. I., Medvecz, M., Wikonkal, N., Huszty, G., Piros, L., Toth, E., Bozsik, A., Liko, I., Patocs, A., Butz, H. Tags: Cancer genetics Source Type: research

Gorlin-goltz syndrome in adolescents —case report
A 14-year-old dark-skinned female patient sought dental care for the presence of secretion in the right posterior maxilla. Panoramic x-ray showed well-defined radiolucent lesions at the posterior region of the 4 quadrants, with displacement of the respective included teeth and absence of expansion of the cortical bone. Tomography, incisional biopsy, and installation of a cannula for cystic decompression were requested. In the aspiration puncture, a whitish-colored material was found. Biopsies confirmed the diagnosis of odontogenic keratocyst. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Rachel Alvarenga Brant, Maynara Lemos Abreu Silva, Felipe Eduardo Baires Campos, Wagner Henriques Castro, Ricardo Santiago Gomez Source Type: research

Sella turcica bridging in patients with gorlin-goltz syndrome and its implications
Patients with Gorlin-Goltz syndrome, also called nevoid basal cell carcinoma syndrome (NBCCS), can present sella turcica bridging (STB), which has been associated with the development of dental and cervical vertebral anomalies. In our clinical cases series, we analyzed skull and cervical spine x-rays of 7 patients with NBCCS and STB. Three patients had STB associated with dental (agenesis, tooth impaction, hyperdontia, diastemata, microdontia, gyroversion, and supernumerary teeth) and cervical (rudimentary cervical discs and ossification of the nuchal ligament) anomalies, 3 had STB associated with dental alterations (tooth...
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Jos é Henrique Dias, Amanda Schmidt, Bruna Da Fonseca Wastner, Jussara Maria Gonçalves, Laurindo Moacir Sassi, Mara Albonei Dudeque Pianovski, José Claudio Casali-Da-Rocha Source Type: research

Immunohistochemical analysis of cxcl12 and cxcr4 in syndromic and nonsyndromic odontogenic keratocysts
To evaluate the immunoexpression of chemokine CXCL12 and C-X-C chemokine receptor type 4 (CXCR4) in odontogenic keratocysts associated with Gorlin-Goltz syndrome (SOKCs) and nonsyndromic odontogenic keratocysts (NSOKCs). (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Amanda Lira Rufino De Lucena, Wliana Pontes De Lima, Allany De Oliveira Andrade, Roberta Barroso Cavalcante, Pollianna Muniz Alves, Cassiano Francisco Weege Nonaka, Manuel Antonio Gord ón-Núñez Source Type: research

Multiples odontogenic keratocyst in two children (brother and sister): case report
The aim of these study was to describe a clinical case of a brother, 13 years old, and sister, 11 years old, who reported purulent drainage in the posterior region of the mandible. Imaging exams showed multiples radiolucent lesions, bilateral, with well-defined limits, located at the anterior region, body, angle of the mandible, and posterior region of the maxilla. Many included teeth were seen in the imaging exams. The diagnostic hypotheses were odontogenic keratocyst related to Gorlin-Goltz syndrome. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Jo ão Francisco Barbosa Cordeiro, Ana Carolina Slaviero, Afonso José Sorgatto Lorenzetti, Aline Alves Luciano, Acir José Dirschnabel, Geórgia Ribeiro Martini, Grasieli De Oliveira Ramos 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)
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

Diagnosis of gorlin-goltz syndrome in a pediatric patient
We presented a rare case of GGS in an 11-year-old female patient. Extraoral clinical examination showed discrete frontal bossing, hypertelorism, and palmoplantar pits. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Andr é Luis Silva Santos, John Lennon Silva Cunha, Ricardo Luiz Cavalcanti De Albuquerque, Aline Corrêa Abrahão, Mário José Romañach, Bruno Augusto Benevenuto De Andrade, Saygo Tomo Source Type: research