2,405 results match your criteria Gorlin Syndrome

Gorlin syndrome: A rare case report.

J Oral Maxillofac Pathol 2020 Sep-Dec;24(3):591. Epub 2021 Jan 9.

Department of Oral Surgery, Government Dental College, Raipur, Chhattisgarh, India.

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. Read More

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January 2021

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.

Am J Med Genet A 2021 May 7. Epub 2021 May 7.

Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Queensland, Australia.

Basal cell nevus syndrome (also known as Gorlin Syndrome; MIM109400) is an autosomal dominant disorder characterized by recurrent pathological features such as basal cell carcinomas and odontogenic keratocysts as well as skeletal abnormalities. Most affected individuals have point mutations or small insertions or deletions within the PTCH1 gene on human chromosome 9, but there are some cases with more extensive deletion of the region, usually including the neighboring FANCC and/or ERCC6L2 genes. We report a 16-year-old patient with a deletion of approximately 400,000 bases which removes only PTCH1 and some non-coding RNA genes but leaves FANCC and ERCC6L2 intact. Read More

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Basal cell nevus syndrome with excessive basal cell carcinomas.

Arch Craniofac Surg 2021 Apr 20;22(2):122-125. Epub 2021 Apr 20.

Department of Plastic and Reconstructive Surgery, Wonkwang University Hospital, Iksan, Korea.

Basal cell nevus syndrome (BCNS), also known as basal cell carcinoma nevus syndrome, Gorlin syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma, is a rare autosomal dominant disorder with a prevalence of approximately 1/60,000. A lower prevalence rate of 1/13,939,393 has also been reported in Korea. We report the case of a 40-year-old male patient with multiple black pigmented macules on the face that first appeared when he was a teenager. Read More

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Imaging of Tumor Syndromes.

Radiol Clin North Am 2021 May;59(3):471-500

Department of Radiology and Medical Imaging, University of Virginia Health System, 1215 Lee Street, Charlottesville, VA 22903, USA. Electronic address:

Tumor predisposition syndromes represent a heterogeneous group of multiorgan disorders, with many having substantial central nervous system involvement. This article highlights the common and uncommon manifestations of these syndromic disorders, the underlying genetic pathways, and the imaging findings. Radiologists must be aware of the diagnostic criteria, optimal imaging techniques (both for diagnosis and surveillance), as well as the innumerable imaging manifestations of these syndromes. Read More

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Multi-directional Cranial Distraction Osteogenesis for Treating Sagittal Synostosis with Frontometaphyseal Dysplasia: A Case Report.

Plast Reconstr Surg Glob Open 2021 Apr 23;9(4):e3551. Epub 2021 Apr 23.

Department of Plastic Surgery, Jichi Children's Medical Center Tochigi, Jichi Medical University, Tochigi, Japan.

Frontometaphyseal dysplasia (FMD), also known as Gorlin-Cohen syndrome, is a rare genetic syndrome. This syndrome affects the skeletal system and connective tissue, and causes a wide spectrum of manifestations of the skull, tubular bones, cardiovascular system, urinary system, and/or gastrointestinal system. Craniofacial findings of FMD are characterized by protruding supraorbital ridge, broad nasal bridge, hypertelorism, down-slanting palpebral fissures, and/or micrognathia. Read More

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Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.

Cancer Genomics Proteomics 2021 May-Jun;18(3):335-347

Department of Molecular Biology, Ariel University, Ariel, Israel;

Background/aim: Germline mutations in PTCH1 or SUFU in the sonic hedgehog (SHH) pathway cause Gorlin's syndrome with increased risk of developing SHH-subgroup medulloblastoma. Gorlin's syndrome precludes the use of radiotherapy (a standard component of treatment) due to the development of multiple basal cell carcinomas. Also, current SHH inhibitors are ineffective against SUFU-mutated medulloblastoma, as they inhibit upstream genes. Read More

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January 2021

Basal Cell Nevus Syndrome with Unusual Associated Findings: A Case Report with 17 Years of Follow-Up.

Am J Case Rep 2021 Apr 22;22:e928670. Epub 2021 Apr 22.

School of Dentistry, Federal University of Pará (UFPA), Belém, PA, Brazil.

BACKGROUND Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome (GGS), is an inherited autosomal dominant disorder caused by mutations in the patched (PTCH) tumor-suppressor gene, which has high penetrance and variable phenotypic expressivity. In 1960, Gorlin and Goltz defined the condition by 3 main characteristics: multiple basal cell carcinomas, odontogenic keratocyst (OKC), and skeletal anomalies. Nowadays, many neurologic, ophthalmic, endocrine, and genital manifestations are known to be associated with this syndrome. Read More

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Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).

Fam Cancer 2021 Apr 16. Epub 2021 Apr 16.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre, School of Biological Sciences, Division of Evolution and Genomic Science, University of Manchester, Manchester, M13 9WL, UK.

Gorlin syndrome (MIM 109,400), a cancer predisposition syndrome related to a constitutional pathogenic variation (PV) of a gene in the Sonic Hedgehog pathway (PTCH1 or SUFU), is associated with a broad spectrum of benign and malignant tumors. Basal cell carcinomas (BCC), odontogenic keratocysts and medulloblastomas are the main tumor types encountered, but meningiomas, ovarian or cardiac fibromas and sarcomas have also been described. The clinical features and tumor risks are different depending on the causative gene. Read More

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Multiple basal cell carcinomas in Gorlin Syndrome treated with pulsed dye laser.

J Cosmet Laser Ther 2021 Apr 14:1-2. Epub 2021 Apr 14.

Department of Dermatology, University of Rochester Medical Center, Rochester, NY, USA.

This is an observational study demonstrating the effectiveness of pulsed dye laser (PDL) as a treatment of basal cell carcinomas (BCC) in patients with Gorlin Syndrome. Over 200 BCCs localized to the head, neck, trunk, and extremities of a patient suffering from Gorlin Syndrome were successfully treated with PDL without subsequent scarring. PDL is a simple and rapid modality to destroy BCCs arising in patients with Gorlin Syndrome resulting in a preferable cosmetic outcome. Read More

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Current update on the molecular genetics and management of hereditary ovarian cancers: a primer for radiologists.

Abdom Radiol (NY) 2021 Apr 13. Epub 2021 Apr 13.

Mallinckrodt Institute of Radiology, Washington University in St. Louis, St. Louis, MO, 63110, USA.

More than one-fifth of ovarian cancers are hereditary, with most of them caused by BRCA genes. Malignant ovarian neoplasms are primarily epithelial tumors, a heterogeneous group of tumors with variable genetic backgrounds that translate into different biologic behaviors and morphologic features. Radiologists play an increasingly important role in the diagnosis and management of oncology patients. Read More

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[Basal cell nevus syndrome with Duchenne muscular dystrophy: a case report].

Hua Xi Kou Qiang Yi Xue Za Zhi 2021 Apr;39(2):230-232

Dept. of Oral and Maxillofacial Surgery, Hospital of Stomatology, Kunming Medical University, Kunming 650000, China.

Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, is a rare autosomal dominant genetic disease. It is thought to be caused by a mutation in the PTCH1 gene, and its incidence is 1/57 000 to 1/256 000. The case of a 7-year-old patient with BCNS and Duchenne muscular dystrophy was reported in this paper. Read More

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Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients.

Eye Brain 2021 29;13:71-78. Epub 2021 Mar 29.

Department of Sense Organs, Faculty of Medicine and Odontology, Sapienza University of Rome, Rome, 00161, Italy.

Introduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.

Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies. Read More

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Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome.

Orbit 2021 Apr 4. Epub 2021 Apr 4.

Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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[Gorlin-Goltz syndrome-not just a syndrome of malignant eyelid tumors].

Ophthalmologe 2021 Mar 26. Epub 2021 Mar 26.

Universitätsklinikum Tübingen, Departement für Augenheilkunde, Eberhard Karls Universität Tübingen, Elfriede-Aulhorn-Str. 7, 72076, Tübingen, Deutschland.

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The immunohistochemical profile of basal cell nevus syndrome-associated and sporadic odontogenic keratocysts: a systematic review and meta-analysis.

Clin Oral Investig 2021 Mar 17. Epub 2021 Mar 17.

Department of Oral Medicine and Pathology, Faculty of Dentistry, National and Kapodistrian University of Athens, Athens, Greece.

Objectives: To provide a systematic review of the literature on studies comparing the immunoprofile of nevoid basal cell carcinoma syndrome (BCNS)-associated and sporadic odontogenic keratocysts (OKCs), in order to identify markers that could accurately distinguish the two OKC subtypes.

Materials And Methods: We searched MEDLINE/Pubmed, Web of Science, EMBASE via OVID, and grey literature for publications until December 28th, 2019, that compared the immunohistochemical expression of the two OKC subtypes. The studies were qualitatively assessed using the Critical Appraisal Tool for Case Series (Joana Briggs Institute). Read More

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Peripheral odontogenic keratocyst: Clinicopathological and immunohistochemical characterization.

Oral Dis 2021 Mar 7. Epub 2021 Mar 7.

Health Care Department, Metropolitan Autonomous University-Xochimilco, Mexico City, Mexico.

Objective: The aim of this study is to present and discuss the salient clinicopathological features, differential diagnosis and epithelial immunohistochemical profile of three additional cases of peripheral odontogenic keratocyst (POKC) and to present a review of the literature. POKC is a locally aggressive odontogenic lesion. The peripheral variant of the odontogenic keratocyst is rare and more frequently located in anterior gingiva. Read More

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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.

Eur J Hum Genet 2021 Mar 2. Epub 2021 Mar 2.

Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

The MCM2-7 helicase is a heterohexameric complex with essential roles as part of both the pre-replication and pre-initiation complexes in the early stages of DNA replication. Meier-Gorlin syndrome, a rare primordial dwarfism, is strongly associated with disruption to the pre-replication complex, including a single case described with variants in MCM5. Conversely, a biallelic pathogenic variant in MCM4 underlies immune deficiency with growth retardation, features also seen in individuals with pathogenic variants in other pre-initiation complex encoding genes such as GINS1, MCM10, and POLE. Read More

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A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.

Eur J Med Genet 2021 Apr 25;64(4):104182. Epub 2021 Feb 25.

Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand. Electronic address:

Disruption of the initiation of DNA replication is significantly associated with Meier-Gorlin syndrome (MGORS), an autosomal recessive condition of reduced growth, microtia and patellar a/hypoplasia. Biallelic mutations in CDC45, a member of the pre-initiation complex in DNA replication, cause a spectrum of phenotypes ranging from MGORS with craniosynostosis, through to isolated short stature and craniosynostosis. Here we report two affected sibs with MGORS and craniosynostosis, with biallelic variants in CDC45 identified by 10X Chromium whole genome sequencing. Read More

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Cutaneous Keratocyst With D2-40 Immunoreactivity in Basal Cell Nevus Syndrome.

Am J Dermatopathol 2021 Feb 16. Epub 2021 Feb 16.

Department of Dermatology, Georgetown University School of Medicine, Washington, DC; Department of Dermatology, MedStar Washington Hospital Center, Georgetown University Hospital, Washington, DC; Aurora Diagnostics/MidAtlantic Pathology Services, Sterling, VA; and Children's National Medical Center, Washington, DC.

Abstract: Although not a diagnostic criterion for basal cell nevus syndrome (BCNS, OMIM#109400), cutaneous cysts, particularly epidermoid cysts, are common in this condition. Cutaneous keratocysts, on the other hand, are extremely rare in general and have been identified in only 5 patients with BCNS. Here, we describe a BCNS patient with a cutaneous keratocyst that demonstrated D2-40 (podoplanin) immunoreactivity, which has been detected in odontogenic keratocysts but not cutaneous keratocysts. Read More

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February 2021

Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis.

J Am Acad Dermatol 2021 Feb 11. Epub 2021 Feb 11.

Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.

Phacomatosis pigmentokeratotica (PPK) is defined by the association of papular nevus spilus arranged in a flag-like pattern and sebaceous nevus following Blaschko's lines. A systematic search of the worldwide literature retrieved 95 well-established PPK cases. An additional 30 cases were excluded for a number of reasons. Read More

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February 2021

and Mutations in a Highly Consanguineous Family.

Int J Mol Sci 2021 Feb 4;22(4). Epub 2021 Feb 4.

IBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.

We present a Turkish family with two cousins (OC15 and OC15b) affected with syndromic developmental delay, microcephaly, and trigonocephaly but with some phenotypic traits distinct between them. OC15 showed asymmetrical skeletal defects and syndactyly, while OC15b presented with a more severe microcephaly and semilobal holoprosencephaly. All four progenitors were related and OC15 parents were consanguineous. Read More

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February 2021

Gorlin-Goltz syndrome with familial manifestation.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2021 Feb 4. Epub 2021 Feb 4.

Department of Pathology, Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic.

Aims: The detection of odontogenic keratocysts (OKC) in the oral cavity is one of the main criteria for the clinical manifestation of Gorlin-Goltz syndrome (Nevoid Basal Cell Carcinoma Syndrome - NBCCS). From a clinical point of view, we distinguish between "syndromic" and "sporadic" OKC. Syndromic cysts, often multifocal, may be an accidental finding on X-ray examination. Read More

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February 2021

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Int J Mol Sci 2021 Jan 18;22(2). Epub 2021 Jan 18.

Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA.

Deoxyribonucleic acid (DNA) replication can be divided into three major steps: initiation, elongation and termination. Each time a human cell divides, these steps must be reiteratively carried out. Disruption of DNA replication can lead to genomic instability, with the accumulation of point mutations or larger chromosomal anomalies such as rearrangements. Read More

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January 2021

Eight years of experience with vismodegib for advanced and multiple basal cell carcinoma patients in the Netherlands: a retrospective cohort study.

Br J Cancer 2021 Mar 19;124(7):1199-1206. Epub 2021 Jan 19.

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands.

Background: Vismodegib has been used for the treatment of locally advanced basal cell carcinoma (laBCC) and metastatic BCC (mBCC) since 2011. Most efficacy and safety data are provided by clinical trials. This study evaluates the effectiveness of vismodegib for the treatment of laBCC, mBCC and basal cell nevus syndrome (BCNS) patients, and the tumour characteristics associated with a higher probability of achieving a complete response in the Netherlands. Read More

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Studying the multiple faces of nevoid basal-cell carcinoma syndrome: A case series.

J Oral Maxillofac Pathol 2020 May-Aug;24(2):315-321. Epub 2020 Sep 9.

Department of Oral Pathology and Microbiology, RUHS College of Dental Sciences (Government Dental College and Hospital), Jaipur, Rajasthan, India.

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 other reports in the Indian population. Read More

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September 2020

An incidental finding of intraocular choristoma in an enucleated microphthalmic globe: A histopathologic case report.

Int J Surg Case Rep 2021 Feb 6;79:70-72. Epub 2021 Jan 6.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.

Introduction And Importance: Choristomas are benign growth of normal tissue in abnormal location and in the ophthalmic practice, they are more commonly found in the epibulbar region. Intraocular choristoma has been reported in different ocular structures but it is very rare especially in association with microphthalmos.

Case Presentation: We present a 13-month-old child with bilateral microphthalmia with the left side being more significantly smaller than the right that required enucleation for introducing a larger silicone implant. Read More

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February 2021

Hereditary ovarian tumour syndromes: current update on genetics and imaging.

Clin Radiol 2021 Apr 19;76(4):313.e15-313.e26. Epub 2021 Jan 19.

Department of Radiology, The University of Texas MD Anderson Cancer Center, 1515 Holocombe Blvd, Houston, TX 77030, USA. Electronic address:

Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA syndromes are exclusively associated with high-grade serous carcinomas, patients with Lynch syndrome show a preponderance of endometrioid subtype of ovarian and endometrial carcinomas. Distinct non-epithelial phenotypes, such as sex cord stromal tumours with annular tubules, Sertoli-Leydig cell tumours, and small cell carcinoma of the hypercalcaemic type occur in patients with Peutz-Jeghers, DICER1, and rhabdoid tumour predisposition syndromes, respectively. Read More

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Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants.

Am J Med Genet A 2021 03 18;185(3):871-876. Epub 2020 Dec 18.

Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

Meier-Gorlin syndrome is an autosomal recessively inherited disorder of growth retardation, accompanied by microtia and patellae a/hypoplasia and characteristic facies. Pathogenic variants in genes associated with the initiation of DNA replication underlie the condition, with biallelic variants in CDT1 the most common cause. Using 10× Chromium genome sequencing, we report CDT1 variants in an adult female, with an inframe amino acid deletion inherited in trans with a deep intronic variant which likely serves as the branchpoint site in Intron 8. Read More

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