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A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer
We present a case of Gorlin-Goltz syndrome (GGS) in a patient who developed medulloblastoma, osteosarcoma, myelodysplastic syndrome, basal cell carcinoma, and odontogenic keratocyst by the age of 19 years. He had no known family history and no characteristic physical features of GGS. A frameshift mutation in the PTCH1 gene was found in the oral mucosa as a low-frequency mosaicism, basal cell carcinoma, and normal skin by whole exome sequencing of cancer susceptibility genes. Setting a therapeutic strategy with regard to second cancer development is important for pediatric cancer patients who have a background of cancer pre...
Source: Journal of Pediatric Hematology Oncology - April 27, 2022 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Unusual Basal Cell Carcinoma in an Adult Woman With Gorlin-Goltz Syndrome.
This case report describes a woman with a history of Gorlin-Goltz syndrome who presented with a medial canthal mass of the left eye.
Source: JAMA Ophthalmology - May 19, 2022 Category: Opthalmology Source Type: research

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
Conclusion GINS2 is a new disease-associated gene, expanding the genetic aetiology of MGORS.
Source: Journal of Medical Genetics - July 21, 2022 Category: Genetics & Stem Cells Authors: Nabais Sa, M. J., Miller, K. A., McQuaid, M., Koelling, N., Wilkie, A. O. M., Wurtele, H., de Brouwer, A. P. M., Oliveira, J. Tags: Open access Genotype-phenotype correlations Source Type: research

Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome
Gorlin-Goltz syndrome (GS) is an inherited disease characterized by predisposition to basal cell carcinomas (BCCs) and various developmental defects, whose numerous disease-causing PTCH1 mutations have been ident...
Source: BMC Medical Genomics - August 5, 2022 Category: Genetics & Stem Cells Authors: Lihua Ye, Li Wang, Kexin Peng, Ou Fang, Zhen Tian, Caihua Li, Xiaopeng Fu, Qingdong Chen, Jia Chen, Jing Luan, Zhenghua Zhang and Qiaoan Zhang Tags: Research 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 - 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

Gorlin-goltz syndrome: a report of two clinical cases with diagnosis and treatment at hospital level
Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare hereditary autosomal dominant condition, with high penetrance and variable expressivity. The aim of this study is to report 2 cases diagnosed at emergency hospital units with the specialty of maxillofacial surgery and traumatology. The first refers to a 10-year-old patient who sought consultation due to an expressive increase in the maxilla volume with panoramic radiography evidencing multiple unilocular radiolucent images in the gnathic bones.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Kelly Tambasco Bezerra, Gabriela Later ça Da Silva Abreu, Jackeline Nogueira De Paula Barros, Regina Celia De Souza Jesus Rangel, Alexandre Moreira De Moraes, Fábio Ramôa Pires, Águida Maria Menezes Aguiar Miranda Source Type: research

Treatment of keratocysts in carrier of gorlin-goltz syndrome: case report
This study reports the treatment of multiple keratocysts in a 13-year-old Afro-White male patient with facial asymmetry caused by the increased volume seen in the jaw and lower jaw. Pigmented macules on the face and skeletal anomalies were also observed. Image exams exhibited multiple unilocular radiolucent lesions in the maxilla and mandible.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Daniela Gomes Castro Dos Santos, Matheus Gon çalves Ferreira Leal, Raphael Lobo Blanquet Ribeiro, Eduardo César Lima Silvia De Miranda, Alena Peixoto Medrado, Silvia Regina De Almeida Reis, Antônio Lucindo Sobrinho 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

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

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome
European Journal of Human Genetics, Published online: 14 April 2023; doi:10.1038/s41431-023-01359-zThe expanding genetic and clinical landscape associated with Meier-Gorlin syndrome
Source: European Journal of Human Genetics - April 14, 2023 Category: Genetics & Stem Cells Authors: Emily Nielsen-Dandoroff Mischa S. G. Ruegg Louise S. Bicknell Source Type: research

Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.
European Journal of Human Genetics, Published online: 30 May 2023; doi:10.1038/s41431-023-01397-7Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.
Source: European Journal of Human Genetics - May 30, 2023 Category: Genetics & Stem Cells Authors: Annalisa Vetro Source Type: research

Diagnosis of gorlin-goltz syndrome: clincial case report
The diagnosis of Gorlin-Goltz syndrome involves clinical, radiographic, and histopathological aspects. Computed tomography contributes to the evaluation of the characteristics, to the extension of cystic lesions, and to the diagnosis of signs, such as calcifications in the falx cerebri. A 22-year-old male presented a complaint of halitosis. Upon extraoral examination, a slight increase in volume in the lower third of the right face, suggestive of a cystic lesion in the soft tissue, and a scar on the skin of the nasolabial region, were noted.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - June 15, 2023 Category: ENT & OMF Authors: Thiago Henrique Gon çalves MOREIRA, Regina Garcia DORTA, Mariana Quirino Silveira SOARES, Renata Hinhug Vilarinho CURADO, Daniela Carvalho TOSIN, José Luiz Cintra JUNQUEIRA, Vera Cavalcanti de ARAÚJO Source Type: research

Commentary on Zhao et al., "Frequent platelet donations is associated with lymphopenia, and risk of infections: A nationwide cohort study"
Transfusion. 2021 Mar 17. doi: 10.1111/trf.16373. Online ahead of print.NO ABSTRACTPMID:33733461 | DOI:10.1111/trf.16373
Source: Transfusion - March 18, 2021 Category: Hematology Authors: Jed B Gorlin Source Type: research

Gorlin-Goltz syndrome-not just a  syndrome of malignant eyelid tumors
Ophthalmologe. 2021 Mar 26. doi: 10.1007/s00347-021-01371-y. Online ahead of print.NO ABSTRACTPMID:33770212 | DOI:10.1007/s00347-021-01371-y
Source: Der Ophthalmologe - March 26, 2021 Category: Opthalmology Authors: C Kortuem A Abaza C Schramm F Kortuem Source Type: research