Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma
CONCLUSION: Our results help towards finding new treatable molecular targets for these types of medulloblastomas.PMID:33893086 | DOI:10.21873/cgp.20264 (Source: Genomics Proteomics ...)
Source: Genomics Proteomics ... - April 24, 2021 Category: Genetics & Stem Cells Authors: Sivan Gershanov Helen Toledano Nomi Pernicone Suzana Fichman Shalom Michowiz Albert Pinhasov Nitza Goldenberg-Cohen Tamar Listovsky Mali Salmon-Divon Source Type: research

Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma
CONCLUSION: Our results help towards finding new treatable molecular targets for these types of medulloblastomas.PMID:33893086 | DOI:10.21873/cgp.20264 (Source: Genomics Proteomics ...)
Source: Genomics Proteomics ... - April 24, 2021 Category: Genetics & Stem Cells Authors: Sivan Gershanov Helen Toledano Nomi Pernicone Suzana Fichman Shalom Michowiz Albert Pinhasov Nitza Goldenberg-Cohen Tamar Listovsky Mali Salmon-Divon Source Type: research

Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma
CONCLUSION: Our results help towards finding new treatable molecular targets for these types of medulloblastomas.PMID:33893086 | DOI:10.21873/cgp.20264 (Source: Genomics Proteomics ...)
Source: Genomics Proteomics ... - April 24, 2021 Category: Genetics & Stem Cells Authors: Sivan Gershanov Helen Toledano Nomi Pernicone Suzana Fichman Shalom Michowiz Albert Pinhasov Nitza Goldenberg-Cohen Tamar Listovsky Mali Salmon-Divon 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)
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

Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)
This report summarizes genotype-based recommendations for screening patients withPTCH1 andSUFU-related Gorlin syndrome, discussed during a workshop of the Host Genome Working Group of the European branch of the International Society of Pediatric Oncology (SIOPE HGWG) held in January 2020. In order to allow early detection of BCC, dermatologic examination should start at age 10 inPTCH1, and at age 20 inSUFU PV carriers. Odontogenic keratocyst screening, based on odontologic examination, should begin at age 2 with annual orthopantogram beginning around age 8 forPTCH1 PV carriers only. For medulloblastomas, repeated brain MRI...
Source: Familial Cancer - April 16, 2021 Category: Cancer & Oncology Source Type: research

Multiple basal cell carcinomas in Gorlin Syndrome treated with pulsed dye laser
. (Source: Journal of Cosmetic and Laser Therapy)
Source: Journal of Cosmetic and Laser Therapy - April 14, 2021 Category: Laser Surgery Authors: Molly Marous Kelly Mueller Francisco Tausk Source Type: research

A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours
Acta Derm Venereol. 2021 Apr 13. doi: 10.2340/00015555-3797. Online ahead of print.NO ABSTRACTPMID:33846763 | DOI:10.2340/00015555-3797 (Source: Acta Dermato-Venereologica)
Source: Acta Dermato-Venereologica - April 13, 2021 Category: Dermatology Authors: Meriem Ighilahriz Sergey Nikolaev Andrey A Yurchenko Maxime Battistella Samia Mourah Fan élie Jouenne Emanuelle Bourrat Nicole Basset-Seguin Source Type: research

A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours
Acta Derm Venereol. 2021 Apr 13. doi: 10.2340/00015555-3797. Online ahead of print.NO ABSTRACTPMID:33846763 | DOI:10.2340/00015555-3797 (Source: Acta Derm Venereol A...)
Source: Acta Derm Venereol A... - April 13, 2021 Category: Dermatology Authors: Meriem Ighilahriz Sergey Nikolaev Andrey A Yurchenko Maxime Battistella Samia Mourah Fan élie Jouenne Emanuelle Bourrat Nicole Basset-Seguin Source Type: research

A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours
Acta Derm Venereol. 2021 Apr 13. doi: 10.2340/00015555-3797. Online ahead of print.NO ABSTRACTPMID:33846763 | DOI:10.2340/00015555-3797 (Source: Acta Derm Venereol A...)
Source: Acta Derm Venereol A... - April 13, 2021 Category: Dermatology Authors: Meriem Ighilahriz Sergey Nikolaev Andrey A Yurchenko Maxime Battistella Samia Mourah Fan élie Jouenne Emanuelle Bourrat Nicole Basset-Seguin Source Type: research

A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours
Acta Derm Venereol. 2021 Apr 13. doi: 10.2340/00015555-3797. Online ahead of print.NO ABSTRACTPMID:33846763 | DOI:10.2340/00015555-3797 (Source: Acta Dermato-Venereologica)
Source: Acta Dermato-Venereologica - April 13, 2021 Category: Dermatology Authors: Meriem Ighilahriz Sergey Nikolaev Andrey A Yurchenko Maxime Battistella Samia Mourah Fan élie Jouenne Emanuelle Bourrat Nicole Basset-Seguin Source Type: research

Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome
Orbit. 2021 Apr 4:1. doi: 10.1080/01676830.2021.1904425. Online ahead of print.NO ABSTRACTPMID:33813993 | DOI:10.1080/01676830.2021.1904425 (Source: Orbit)
Source: Orbit - April 5, 2021 Category: Opthalmology Authors: Meleha Ahmad Rupin Parikh Charles Eberhart Roxana Fu Source Type: research

Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome
Orbit. 2021 Apr 4:1. doi: 10.1080/01676830.2021.1904425. Online ahead of print.NO ABSTRACTPMID:33813993 | DOI:10.1080/01676830.2021.1904425 (Source: Orbit)
Source: Orbit - April 5, 2021 Category: Opthalmology Authors: Meleha Ahmad Rupin Parikh Charles Eberhart Roxana Fu Source Type: research

Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome
Orbit. 2021 Apr 4:1. doi: 10.1080/01676830.2021.1904425. Online ahead of print.NO ABSTRACTPMID:33813993 | DOI:10.1080/01676830.2021.1904425 (Source: Orbit)
Source: Orbit - April 5, 2021 Category: Opthalmology Authors: Meleha Ahmad Rupin Parikh Charles Eberhart Roxana Fu Source Type: research

Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome
Orbit. 2021 Apr 4:1. doi: 10.1080/01676830.2021.1904425. Online ahead of print.NO ABSTRACTPMID:33813993 | DOI:10.1080/01676830.2021.1904425 (Source: Orbit)
Source: Orbit - April 5, 2021 Category: Opthalmology Authors: Meleha Ahmad Rupin Parikh Charles Eberhart Roxana Fu Source Type: research

Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome
Orbit. 2021 Apr 4:1. doi: 10.1080/01676830.2021.1904425. Online ahead of print.NO ABSTRACTPMID:33813993 | DOI:10.1080/01676830.2021.1904425 (Source: Orbit)
Source: Orbit - April 5, 2021 Category: Opthalmology Authors: Meleha Ahmad Rupin Parikh Charles Eberhart Roxana Fu Source Type: research

Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome
Orbit. 2021 Apr 4:1. doi: 10.1080/01676830.2021.1904425. Online ahead of print.NO ABSTRACTPMID:33813993 | DOI:10.1080/01676830.2021.1904425 (Source: Orbit)
Source: Orbit - April 5, 2021 Category: Opthalmology Authors: Meleha Ahmad Rupin Parikh Charles Eberhart Roxana Fu Source Type: research

Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome
Orbit. 2021 Apr 4:1. doi: 10.1080/01676830.2021.1904425. Online ahead of print.NO ABSTRACTPMID:33813993 | DOI:10.1080/01676830.2021.1904425 (Source: Orbit)
Source: Orbit - April 5, 2021 Category: Opthalmology Authors: Meleha Ahmad Rupin Parikh Charles Eberhart Roxana Fu Source Type: research

Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome
Orbit. 2021 Apr 4:1. doi: 10.1080/01676830.2021.1904425. Online ahead of print.NO ABSTRACTPMID:33813993 | DOI:10.1080/01676830.2021.1904425 (Source: Orbit)
Source: Orbit - April 5, 2021 Category: Opthalmology Authors: Meleha Ahmad Rupin Parikh Charles Eberhart Roxana Fu Source Type: research

Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome
Orbit. 2021 Apr 4:1. doi: 10.1080/01676830.2021.1904425. Online ahead of print.NO ABSTRACTPMID:33813993 | DOI:10.1080/01676830.2021.1904425 (Source: Orbit)
Source: Orbit - April 5, 2021 Category: Opthalmology Authors: Meleha Ahmad Rupin Parikh Charles Eberhart Roxana Fu 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)
Source: Der Ophthalmologe - March 26, 2021 Category: Opthalmology Authors: C Kortuem A Abaza C Schramm F Kortuem 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)
Source: Der Ophthalmologe - March 26, 2021 Category: Opthalmology Authors: C Kortuem A Abaza C Schramm F Kortuem 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)
Source: Der Ophthalmologe - March 26, 2021 Category: Opthalmology Authors: C Kortuem A Abaza C Schramm F Kortuem 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)
Source: Transfusion - March 18, 2021 Category: Hematology Authors: Jed B Gorlin 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)
Source: Transfusion - March 18, 2021 Category: Hematology Authors: Jed B Gorlin Source Type: research

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
European Journal of Human Genetics, Published online: 02 March 2021; doi:10.1038/s41431-021-00839-4MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 2, 2021 Category: Genetics & Stem Cells Authors: Karen M. Knapp Danielle E. Jenkins Rosie Sullivan Frederike L. Harms Leonie von Elsner Charlotte W. Ockeloen Sonja de Munnik Ernie M. H. F. Bongers Jennie Murray Nicholas Pachter Jonas Denecke Kerstin Kutsche Louise S. Bicknell Source Type: research

A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis
This report adds to the initial patient cohort in which several synonymous variants were also described, further highlighting the contribution of this variant type in CDC45. It also reiterates the true potential pathogenicity of synonymous variants, which is a mutation type that is commonly ignored in variant prioritization strategies.PMID:33639314 | DOI:10.1016/j.ejmg.2021.104182 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 27, 2021 Category: Genetics & Stem Cells Authors: Karen M Knapp Bridget Fellows Shagun Aggarwal Ashwin Dalal Louise S Bicknell Source Type: research

A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis
This report adds to the initial patient cohort in which several synonymous variants were also described, further highlighting the contribution of this variant type in CDC45. It also reiterates the true potential pathogenicity of synonymous variants, which is a mutation type that is commonly ignored in variant prioritization strategies.PMID:33639314 | DOI:10.1016/j.ejmg.2021.104182 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 27, 2021 Category: Genetics & Stem Cells Authors: Karen M Knapp Bridget Fellows Shagun Aggarwal Ashwin Dalal Louise S Bicknell Source Type: research

A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis
This report adds to the initial patient cohort in which several synonymous variants were also described, further highlighting the contribution of this variant type in CDC45. It also reiterates the true potential pathogenicity of synonymous variants, which is a mutation type that is commonly ignored in variant prioritization strategies.PMID:33639314 | DOI:10.1016/j.ejmg.2021.104182 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 27, 2021 Category: Genetics & Stem Cells Authors: Karen M Knapp Bridget Fellows Shagun Aggarwal Ashwin Dalal Louise S Bicknell Source Type: research

COVID-19 convalescent plasma: interim recommendations from the AABB.
CONCLUSIONS: These interim recommendations are based on the best-available evidence at the time of writing. Additional data from on-going RCTs will lead to clinical practice guidelines in the future. PMID: 33586160 [PubMed - as supplied by publisher] (Source: Transfusion)
Source: Transfusion - February 14, 2021 Category: Hematology Authors: Cohn CS, Estcourt L, Grossman BJ, Pagano MB, Allen ES, Bloch EM, Casadevall A, Devine DV, Dunbar NM, Foroutan F, Gniadek TJ, Goel R, Gorlin J, Joyner MJ, Metcalf RA, Raval JS, Rice TW, Shaz BH, Vassallo RR, Winters JL, Beaudoin G, Tobian AAR Tags: Transfusion 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)
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

Gorlin-Goltz Syndrome: Case Report and Review
Authors: Tahir Ahmad [1], Parveen Akhter Lone [2], Javaid Ahmed Wani [1], Nusrat Rafi [3]Affiliations: [1] Department of Oral and Maxillo Facial Surgey, Indra Gandi Government Dental College, Jammu and Kashmir  [2] Professor and Head, Department of Oral and…The postGorlin-Goltz Syndrome: Case Report and Review appeared first onJPMS. (Source: Journal of Pakistan Medical Students)
Source: Journal of Pakistan Medical Students - January 10, 2021 Category: Universities & Medical Training Source Type: research

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

A Gorlin-Goltz-szindr óma genetikai aspektusai.
A Gorlin-Goltz-szindróma genetikai aspektusai. Orv Hetil. 2020 Dec 06;161(49):2072-2077 Authors: Vetró É, Oláh J, Nagy D, Széll M, Piffkó J, Seres L Abstract Összefoglaló. A Gorlin-Goltz-szindróma - más néven naevoid basalsejtes carcinoma szindróma - egy ritka, viszont számos orvosi társszakmát érintő, rendkívül változatos megjelenésű és genetikailag is heterogén betegség. Bár a tudományos kutatások egyik kedvenc terüle...
Source: Orvosi Hetilap - December 6, 2020 Category: General Medicine Authors: Vetró É, Oláh J, Nagy D, Széll M, Piffkó J, Seres L Tags: Orv Hetil Source Type: research

Sensitivity of surveillance imaging (MRI vs OPG) in odontogentic keratocyst detection in patients with nevoid basal cell carcinoma syndrome (Gorlin syndrome)
Introduction: Odontogenic keratocysts (OKC) are often a presenting feature of nevoid basal cell carcinoma syndrome (NBCCS). Recurrence is common and requires surveillance. (Source: The British Journal of Oral and Maxillofacial Surgery)
Source: The British Journal of Oral and Maxillofacial Surgery - December 1, 2020 Category: ENT & OMF Authors: Adil Aslam, Andrew Monaghan, Rhodri Williams Tags: P75 Source Type: research

Gorlin-Goltz syndrome: clinical findings in a Italian population and review of the literature.
Authors: Miraglia E, Laghi A, Iacovino C, Moramarco A, Giustini S PMID: 33026215 [PubMed - as supplied by publisher] (Source: Giornale Italiano di Dermatologia e Venereologia)
Source: Giornale Italiano di Dermatologia e Venereologia - October 9, 2020 Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research

Working memory moderates the predictive influence of distress intolerance on health-related goal attainment.
Abstract High distress intolerance (DI: often assessed as anxiety sensitivity) and low working memory capacity (WMC) have each been identified as risk factors for negative health behaviors. To our knowledge, these risk factors have only been studied independently. The current study investigated both the independent and interactive effects of DI and WMC in predicting health-related goal attainment in 118 undergraduates who self-selected a health-related goal. Participants received one of three interventions: values clarification, action planning, or a combination of the two. Across these interventions, we found tha...
Source: Cognitive Behaviour Therapy - October 6, 2020 Category: Psychiatry & Psychology Authors: Fitzgerald HE, Gorlin EI, Otto MW Tags: Cogn Behav Ther Source Type: research

Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review.
ner B Abstract Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic condition and prompt additional investigations, as well as a modification of therapeutic management. Herein, we present a molecularly confirmed familial case of Gorlin syndrome with an early cardiac tumor as a presenting sign. We provide detailed clinical characteristics of the affected individuals and a useful review of syndromic causes of pediatric cardiac...
Source: J Appl Genet - September 21, 2020 Category: Genetics & Stem Cells Authors: Szczałuba K, Makuła E, Piórecka-Makuła A, Sicińska J, Rydzanicz M, Gasperowicz P, Płoski R, Werner B Tags: J Appl Genet Source Type: research

Studying the multiple faces of nevoid basal-cell carcinoma syndrome: A case series
Shikha Saxena, Krishna Sireesha Sundaragiri, Akshay Bhargava, Bharat SankhlaJournal of Oral and Maxillofacial Pathology 2020 24(2):315-321 Nevoid basal-cell carcinoma syndrome (NBCCS) or Gorlin–Goltz syndrome is an autosomal dominant-inherited condition that exhibits high penetrance and variable expressivity; however, this disorder can arise spontaneously. In 1960, Gorlin and Goltz described the syndrome as a condition, comprising the principle triad of multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. The diagnostic findings of NBCCS in four patients were studied and compared with othe...
Source: Journal of Oral and Maxillofacial Pathology - September 8, 2020 Category: ENT & OMF Authors: Shikha Saxena Krishna Sireesha Sundaragiri Akshay Bhargava Bharat Sankhla Source Type: research

Analysis of expression of p53, p63 and proliferating cell nuclear antigen proteins in odontogenic keratocyst: An immunohistochemical study
Conclusions: It is possible that the biological behavior of OKCs may be related to the suprabasal proliferative compartment in the cystic epithelium as observed. These proteins may participate in the regulation of epithelial cell differentiation. Taken together, these data may favor tumerigenesis on OKCs. (Source: Journal of Oral and Maxillofacial Pathology)
Source: Journal of Oral and Maxillofacial Pathology - September 8, 2020 Category: ENT & OMF Authors: Vidya Kadashetti Nanda Patil Kailas Datkhile Sujata Kanetakar KM Shivakumar Source Type: research

Studying the multiple faces of nevoid basal-cell carcinoma syndrome: A case series
Shikha Saxena, Krishna Sireesha Sundaragiri, Akshay Bhargava, Bharat SankhlaJournal of Oral and Maxillofacial Pathology 2020 24(2):315-321 Nevoid basal-cell carcinoma syndrome (NBCCS) or Gorlin–Goltz syndrome is an autosomal dominant-inherited condition that exhibits high penetrance and variable expressivity; however, this disorder can arise spontaneously. In 1960, Gorlin and Goltz described the syndrome as a condition, comprising the principle triad of multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. The diagnostic findings of NBCCS in four patients were studied and compared with othe...
Source: Journal of Oral and Maxillofacial Pathology - September 8, 2020 Category: ENT & OMF Authors: Shikha Saxena Krishna Sireesha Sundaragiri Akshay Bhargava Bharat Sankhla Source Type: research

Gorlin syndrome synchronic with oral squamous cell carcinoma: a case report
The nevoid basal cell carcinoma syndrome (NBCCS) is a genetic disorder that affects the PTCH gene, which is highly associated with tumor suppression. It presents a case of NBCCS diagnosed in a 49-year-old Caucasian male. His medical history has shown a great number of surgical procedures for the removal of lesions that are common to the syndrome. One of the lesions was removed from the mandible and sent for biopsy. The patient was diagnosed by means of a jaw biopsy conducted by a buccomaxillofacial surgeon, and histopathologic sections showed a diagnosis of odontogenic keratocyst (OKC) and squamous cell carcinoma (SCC). (S...
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 31, 2020 Category: ENT & OMF Authors: CAMILA MARIA BEDER RIBEIRO GIRISH PANJWANI, KELLY DE MOURA FERREIRA, MARIANA DE LYRA VASCONCELOS, ISABELLE DE ARGOLO MELO, JANAINA MARIA DOS SANTOS PAIVA, JOS É DE AMORIM LISBOA-NETO, MARCELO DE ALMEIDA COSTA Tags: 20190763 Source Type: research

Gorlin-goltz syndrome with rare associated finds: a case report of 17-year follow-up
This study reports the case of a 27-year-old woman with GGS who was followed-up for 17 years. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 31, 2020 Category: ENT & OMF Authors: YASMIM RODRIGUES SENA, HUMBERTO J ÁCOME SANTOS, ANTONIA TAIANE LOPES DE MORAES, KAROLYNY MARTINS BALBINOT, SÉRGIO DE MELO ALVES JÚNIOR, NEWTON GUERREIRO DA SILVA JUNIOR, JOÃO DE JESUS VIANA PINHEIRO Tags: 20190452 Source Type: research

Immunohistochemical analysis of autophagy-related proteins in odontogenic keratocysts
Objective: To evaluate the immunoexpression of autophagy-related proteins (p62 and Atg7) in odontogenic keratocysts associated with Gorlin syndrome (SOKCs) and nonsyndromic odontogenic keratocysts (NSOKCs).Study design: The percentages of immunopositive cells (nuclear and cytoplasmic/membrane) for p62 and Atg7 in the epithelial component of 25 SOKCs and 25 NSOKCs were assessed. The results were analyzed statistically using the nonparametric Mann-Whitney U test and Spearman correlation test. Results: Expression of p62 and Atg7 was observed in all cases studied. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radi...
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 31, 2020 Category: ENT & OMF Authors: Fabianna da Concei çao Dantas de MEDEIROS, Hellen Bandeira de Pontes SANTOS, Ana Luzia Araújo BATISTA, Roberta Barroso CAVALCANTE, Manuel Antonio GORDÓN-NÚÑEZ, Pollianna Muniz ALVES, Cassiano Francisco Weege NONAKA Tags: 20190121 Source Type: research

Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy
Multiple lentigines syndrome, also known as LEOPARD syndrome, is an autosomal dominant cardiocutaneous syndrome that has high penetrance with variable expressivity.1 In 1968, Moynahan and Polani initially described a neuroectodermal association between hypertrophic cardiomyopathy phenotype and lentiginosis.2 Subsequently, Gorlin et al. in 1969 coined the term “LEOPARD” as an acronym for lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, abnormalities of genitalia, retardation of growth, and deafness. (Source: The American Journal of Cardiology)
Source: The American Journal of Cardiology - August 27, 2020 Category: Cardiology Authors: Patrycja Galazka, Renuka Jain, Lakshmi Muthukumar, Heather Sanders, Michelle Bush, M. Fuad Jan, Arshad Jahangir, Bijoy K. Khandheria, A. Jamil Tajik Source Type: research

Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz–Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature
We report the case of a 51-year-old man presenting with congenital skin lesions, syndactyly, facial and thoracic asymmetry, inguinal and laryngeal papillomas, cryptorchidism, polythelia, and dental anomalies. Molecular genetic analysis confirmed the clinically suspected diagnosis of GGS by detecting a known pathogenic mutation in the PORCN gene, c.502G>A [p.(Gly168Arg)] in the mosaic state. Histopathological examinations of skin biopsies of affected individuals typically show focal dermal hypoplasia and fat herniation; despite numerous skin biopsies, these characteristics were not found in the patient involved. Instead,...
Source: The American Journal of Dermatopathology - August 22, 2020 Category: Pathology Tags: Original Study Source Type: research

Keratinocytes from Gorlin Syndrome-induced pluripotent stem cells are resistant against UV radiation
AbstractGorlin syndrome (GS) is an autosomal dominant genetic disorder involvingPatched 1 (PTCH1) mutations. The PTCH1 is a receptor as well as an inhibitor of hedgehog (Hh) to sequester downstream Hh pathway molecules called Smoothened (SMO).PTCH1 mutations causes a variety of GS conditions including falx calcification, odontogenic keratocytes and basal cell carcinomas (BCC). BecausePTCH1 is a major driver gene of sporadic BCC, GS patients are characteristically prone to BCC. In order to elucidate the pathological mechanism of BCC-prone GS patients, we investigated keratinocytes derived from GS patient specific iPS cells ...
Source: Medical Molecular Morphology - August 19, 2020 Category: Molecular Biology Source Type: research

Modeling SHH-driven medulloblastoma with patient iPS cell-derived neural stem cells [Medical Sciences]
Medulloblastoma is the most common malignant brain tumor in children. Here we describe a medulloblastoma model using Induced pluripotent stem (iPS) cell-derived human neuroepithelial stem (NES) cells generated from a Gorlin syndrome patient carrying a germline mutation in the sonic hedgehog (SHH) receptor PTCH1. We found that Gorlin NES cells... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - August 17, 2020 Category: Science Authors: Evelyn Susanto, Ana Marin Navarro, Leilei Zhou, Anders Sundstrom, Niek van Bree, Marina Stantic, Mohsen Moslem, Jignesh Tailor, Jonne Rietdiȷk, Veronica Zubillaga, Jens–Martin Hubner, Holger Weishaupt, Johanna Wolfsberger, Irina Alafuzoff, An Tags: Biological Sciences Source Type: research

Podoplanin Expression in Odontogenic Keratocysts Associated or not Associated With Nevoid Basal Cell Carcinoma Syndrome
Conclusions: Podoplanin expression is different in lesions of different biological behaviors. Podoplanin seems to play a role in cell proliferation and migration. (Source: Applied Immunohistochemistry and Molecular Morphology)
Source: Applied Immunohistochemistry and Molecular Morphology - August 1, 2020 Category: Chemistry Tags: Research Articles Source Type: research

Prevalence and risk factors for high-frequency basal cell carcinoma in the United States
To the Editor: Rare  genetic diseases such as basal cell nevus syndrome (BCNS) or Gorlin syndrome are known to predispose patients to early-onset, high-frequency basal cell carcinoma (HF-BCC).1 However, there are patients who develop unusually frequent BCCs but who do not harbor germline mutations in PTCH1 or SUFU or meet the clinical phenotypes of known genetic syndromes. A retrospective study of patients with BCC at Stanford evaluated with genetic testing and pathology found that among patients with nonsyndromic BCC monitored for 5 to 10 years, 3% of patients developed 9 or more BCCs. (Source: Journal of t...
Source: Journal of the American Academy of Dermatology - July 27, 2020 Category: Dermatology Authors: Audris Chiang, Daniel C. Solis, Howard Rogers, Grace K. Sohn, Hyunje G. Cho, Gillian Saldanha, David Lapidus, Shufeng Li, Kavita Y. Sarin, Jean Y. Tang Tags: Letter Source Type: research