2,494 results match your criteria Gorlin Syndrome

Expression of Matrix Metalloproteinases 7 and 9, Desmin, Alpha-Smooth Muscle Actin and Caldesmon, in Odontogenic Keratocyst Associated with NBCCS, Recurrent and Sporadic Keratocysts.

Biomolecules 2022 Jun 2;12(6). Epub 2022 Jun 2.

Department of Medical and Surgical Sciences, University of Catania, 95123 Catania, Italy.

Nevoid basal cell carcinoma syndrome (NBCCS) associated odontogenic keratocysts (OKCs) show more aggressive behavior and it has a higher frequency of relapse than non-syndromic OKCs. Stromal myofibroblasts (MFs), characterized by α-smooth muscle actin (αSMA), desmin and caldesmon expression, and metalloproteinases (MMPs) have an essential role in the remodeling of the extracellular matrix (ECM). The aim of the study is to analyze the immunohistochemical expression of MMP-7, MMP-9, αSMA and other new markers in the study of OKCs MFs such as desmin and caldesmon in NBCCS-associated OKCs compared to recurrent and sporadic keratocysts. Read More

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A rare case of cardiac fibroma diagnosis in Gorlin-Goltz syndrome with information on management.

Future Cardiol 2022 Jun 23. Epub 2022 Jun 23.

Cardiovascular Disease, University of Michigan-West, Wyoming, 49519, Michigan.

Gorlin-Goltz syndrome is a rare autosomal dominant disease characterized by odontogenic keratocysts and basal cell carcinoma as well as ophthalmic and neurological implications. The following article presents the case of a 20-year-old female with Gorlin-Goltz syndrome incidentally found to have a cardiac mass. An ECG showed diffuse T-wave inversions in the lateral leads despite a lack of any acute coronary symptoms in the patient. Read More

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Experience with sonidegib in patients with advanced basal cell carcinoma: case reports.

Drugs Context 2022 23;11. Epub 2022 May 23.

Dermatology Department, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.

Sonidegib is a Hedgehog signalling pathway inhibitor approved for use in patients with advanced basal cell carcinoma (BCC) not eligible for surgery or radiotherapy. This report describes clinical experience with sonidegib in two patients with locally advanced BCC (one with a tumour adjacent to the right eye and the other with a tumour associated with the left ear) and in one patient with Gorlin syndrome. Two of the patients had recurrent and intractable tumours. Read More

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Decoding a gene expression program that accompanies the phenotype of sporadic and Basal Cell Nevus Syndrome-associated odontogenic keratocyst.

J Oral Pathol Med 2022 Jun 4. Epub 2022 Jun 4.

Department of Oral Medicine & Pathology and Hospital Dentistry, School of Dentistry, National and Kapodistrian University of Athens, Athens, Greece.

Background: Odontogenic keratocyst (OKC) is characterized by local aggressive behavior and a high recurrence rate, as well as the potential to develop in association with the Basal Cell Nevus Syndrome (BCNS). The aim of this study was to decode the gene expression program accompanying OKC phenotype.

Methods: 150-bp paired-end RNA-sequencing was applied on 6 sporadic and 6 BSCN-associated whole-tissue OKC samples in comparison to 6 dental follicles, coupled to bioinformatics and complemented by immunohistochemistry. Read More

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A Case of Gorlin-Goltz Syndrome Presented With Multiple Odontogenic Keratocysts in the Jaw Without Skin Manifestation.

Cureus 2022 May 2;14(5):e24666. Epub 2022 May 2.

Pediatrics, Jawaharlal Nehru Medical College, Wardha, IND.

Gorlin-Goltz syndrome is a hereditary autosomal dominant condition with high penetrance and varied phenotypic expressiveness that can appear spontaneously. It is estimated that between 30% and 50% of people with this disease do not know if any of their family members have had it. Patched (PTCH), a tumor suppressor gene found on the 9q22. Read More

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Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.

JCI Insight 2022 05 23;7(10). Epub 2022 May 23.

Maisonneuve-Rosemont Hospital Research Center, Montreal, Quebec, Canada.

The eukaryotic CDC45/MCM2-7/GINS (CMG) helicase unwinds the DNA double helix during DNA replication. The GINS subcomplex is required for helicase activity and is, therefore, essential for DNA replication and cell viability. Here, we report the identification of 7 individuals from 5 unrelated families presenting with a Meier-Gorlin syndrome-like (MGS-like) phenotype associated with hypomorphic variants of GINS3, a gene not previously associated with this syndrome. Read More

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Pediatric synchronous multifocal and disseminated cerebrospinal classic medulloblastoma revealed by bilateral decreased visual acuity: a case report.

Childs Nerv Syst 2022 May 20. Epub 2022 May 20.

Department of Neurosurgery, UHC Habib Bourguiba, Sfax, Tunisia.

Medulloblastoma (MB) is a rapidly growing malignant solid tumor that arises from stem cells located in the subependymal germinal matrix or outer granular layer of the cerebellum. It represents 15 to 30% of pediatric brain tumors and less than 1% of primary brain tumors. The reason for the high incidence of MB in children compared to adults is the embryonic origin of the tumor. Read More

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Unusual Basal Cell Carcinoma in an Adult Woman With Gorlin-Goltz Syndrome.

JAMA Ophthalmol 2022 May 19;140(5):e220637. Epub 2022 May 19.

Canterbury District Health Board, Christchurch, New Zealand.

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Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.

Prenat Diagn 2022 06 27;42(7):927-933. Epub 2022 May 27.

Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Objectives: To reach a molecular diagnosis for a family with two consecutive fetuses presenting with multiple congenital anomalies.

Methods: The two fetuses underwent prenatal ultrasound, autopsy, radiologic, and genetic investigation. Genetic analysis included karyotype and array-CGH for both fetuses and trio-based whole exome sequencing (WES) only for the second fetus. Read More

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Immunoexpression of CXCL12 and CXCR4 in sporadic and Gorlin-Goltz syndrome-related odontogenic keratocysts.

J Clin Exp Dent 2022 May 1;14(5):e426-e432. Epub 2022 May 1.

Universidade Estadual da Paraíba - UEPB, Department of Dentistry, Campina Grande, PB, Brazil.

Background: Differences in the pathogenesis and biological behavior of sporadic and Gorlin-Goltz syndrome-related odontogenic keratocysts (OKCs) have been reported, but the underlying mechanisms are not fully elucidated. Chemokine CXCL12 and its main receptor CXCR4 regulate important events in the pathogenesis of several lesions.

Material And Methods: This study evaluated the immunoexpression of CXCL12 and CXCR4 in sporadic and syndromic OKCs. Read More

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Advanced basal cell carcinoma: What dermatologists need to know about diagnosis.

J Am Acad Dermatol 2022 06;86(6S):S1-S13

St. Luke's Cancer Center, Easton.

Basal cell carcinoma (BCC) is the most common human cancer, with approximately 3.6 million cases diagnosed each year. About 2000 deaths annually in the United States are attributed to basal and squamous cell skin cancers. Read More

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An investigation of metabolic disturbances, including urinary stone disease, hypothyroidism, and osteoporosis in basal cell nevus syndrome.

Pediatr Dermatol 2022 May 16. Epub 2022 May 16.

Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.

Background/objectives: Basal cell nevus syndrome (BCNS) is an autosomal dominant skin cancer predisposition syndrome associated with abnormal mineral metabolism, a risk factor for urinary stone disease (USD). However, no research investigating the association between BCNS and USD or other manifestations of abnormal mineral metabolism has been conducted. The objective of this study is to investigate the association between BCNS and conditions associated with disordered mineral metabolism including USD, hypothyroidism, and osteoporosis and compare them to prevalence in the general population to elucidate potential unknown manifestations of the condition. Read More

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A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Mar;47(3):384-389

Department of Plastic and Cosmetic Surgery, Xiangya Hospital, Central South University, Changsha 410008.

Nevus-like basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the occurrence of multiple maxillofacial keratocysts, basal cell carcinoma, child medulloblastoma, and various skeletal and soft tissue dysplasia. In 2020, a patient with NBCCS dominated by facial basal cell carcinoma was admitted to Xiangya Hospital of Central South University. The patient was an elderly woman. Read More

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Dermoscopy of cutaneous adnexal tumours: a systematic review of the literature.

J Eur Acad Dermatol Venereol 2022 May 10. Epub 2022 May 10.

Centro Oncologico ad Alta Tecnologia Diagnostica, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Cutaneous adnexal tumours (ATs) encompass a variegated group of hamartomas and benign or malignant tumours, originating from the hair follicle, sebaceous, eccrine or apocrine glands that may simulate other cutaneous neoplasms. This study aims to provide a comprehensive overview of the spectrum of clinical and dermoscopic features of ATs, to better define these lesions and assist in the differential diagnosis. We performed a two-step systematic search of the literature in PubMed, Embase and Cochrane Library databases from inception until 4 September 2020. Read More

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Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience.

Neurosurg Focus 2022 05;52(5):E2

1Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.

Objective: Neurocutaneous syndromes have variable multisystem involvement. The multiorgan involvement, potential pathologies, and various treatment options necessitate collaboration and open discussion to ensure optimal treatment in any given patient. These disorders provide quintessential examples of chronic medical conditions that require a lifelong, multidisciplinary approach. Read More

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Development of a targeted gene panel for the diagnosis of Gorlin syndrome.

Int J Oral Maxillofac Surg 2022 Apr 15. Epub 2022 Apr 15.

Department of Biochemistry, Tokyo Dental College, Chiyoda-ku, Tokyo, Japan. Electronic address:

Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the PTCH1, PTCH2, and SUFU genes. Each symptom of the disease has a different time point of onset, which makes early diagnosis based solely on symptoms challenging. In this study, a gene panel was developed to overcome the challenges in the diagnosis of Gorlin syndrome and allow diagnosis using a single test. Read More

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Leiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report.

J Pediatr Hematol Oncol 2022 Jul 4;44(5):e914-e917. Epub 2022 Apr 4.

Division of Hematology-Oncology, Department of Pediatrics.

Heterozygous loss-of-function variants in the suppressor of fused protein gene (SUFU) can result in Gorlin syndrome, which is characterized by an increased frequency of basal cell carcinoma, medulloblastoma, odontogenic keratocysts, as well as other tumors. We describe a case of a 5-month-old female who presented with multiple intra-abdominal leiomyomata and was found to have a likely pathogenic splice site variant in the SUFU gene. This is the first reported case of leiomyomatosis secondary to a pathogenic SUFU variant in an infant and may represent an early, atypical presentation of Gorlin syndrome. Read More

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Gorlin Syndrome: Assessing Genotype-Phenotype Correlations and Analysis of Early Clinical Characteristics as Risk Factors for Disease Severity.

J Clin Oncol 2022 Mar 25:JCO2102385. Epub 2022 Mar 25.

Department of Dermatology, Stanford University School of Medicine, Stanford, CA.

Purpose: Gorlin syndrome (GS) is a rare genetic disorder characterized by lifetime risk of basal cell carcinomas (BCCs), skeletal anomalies (SAs), and other extracutaneous neoplasms. There is great variation in disease severity, and a genotype-phenotype correlation has not been well established. Here, we investigate whether patients' clinical characteristics predict disease severity to inform clinical decision making. Read More

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Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Head Neck Pathol 2022 Mar 21;16(1):143-157. Epub 2022 Mar 21.

MD Anderson Cancer Center, Houston, TX, USA.

The initiative of the 5th edition of the WHO classification of the Head and Neck Tumours establishing a new section dedicated to familial/heritable tumor syndromes with tumors and lesions in the head and neck region was much needed to better understand the tumours, diseases, and associated syndromes, as well as establish recommendations for monitoring and treating these patients. (WHO Classification of Tumours Editorial Board. Head and Neck tumours. Read More

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Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Am J Med Genet A 2022 Jul 17;188(7):2139-2146. Epub 2022 Mar 17.

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

We report a patient with microcephalic primordial dwarfism with predominant Meier-Gorlin syndrome phenotype with ichthyosis and disabling multiple joint deformities in addition to classic features of the syndrome. The patient was a 10.5-year-old girl referred in view of short stature, joint deformities, and facial dysmorphism. Read More

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Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case.

Radiol Case Rep 2022 May 4;17(5):1512-1520. Epub 2022 Mar 4.

Department of Radiology, Birjand University of Medical Sciences, Birjand, Iran.

Meire-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by a triad of short stature, microtia, and absent or hypoplastic patella. We report a 5-year-old male affected with the subtype MGS1, secondary to c.c2292t mutation of ORC1 gene. Read More

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Topical hedgehog inhibitors for basal cell carcinoma: how far away are we?

Expert Opin Pharmacother 2022 Apr 8;23(6):739-740. Epub 2022 Mar 8.

Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Introduction: The standard treatment of basal cell carcinoma (BCC) consists of conventional excision or Mohs micrographic surgery. However, surgical excision is not feasible in specific cases, particularly in patients with several BCCs such as those with Gorlin syndrome or individuals receiving immunosuppression after solid-organ transplantation. Additionally, the geriatric population may not be appropriate candidates for surgery. Read More

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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.

J Pediatr Hematol Oncol 2022 05 1;44(4):e869-e871. Epub 2022 Mar 1.

Department of Pediatrics, Osaka Medical and Pharmaceutical University, Osaka.

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. Read More

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Hairy patches as early dermatological signs of Gorlin syndrome in a patient with a novel PTCH1 genetic variant.

J Dermatol 2022 06 28;49(6):e195-e196. Epub 2022 Feb 28.

Department of Dermatology, Pontevedra University Hospital, Pontevedra, Spain.

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Gorlin Goltz Syndrome: Beware of Melanoma.

Dermatol Pract Concept 2022 Feb 1;12(1):e2022038. Epub 2022 Jan 1.

Department of Medical, Surgical and Neurological Science, Dermatology Section, University of Siena, S. Maria alle Scotte Hospital, Siena, Italy.

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February 2022

[Detection of SMO gene mutations in odontogenic keratocyst].

Zhonghua Kou Qiang Yi Xue Za Zhi 2022 Feb;57(2):149-154

Department of Oral Pathology, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.

To detect the SMO mutations in odontogenic keratocyst (OKC) and to explore the mechanism behind. Patients with OKC who received treatment in the Department of Oral and Maxillofacial Surgery, School and Hospital of Stomatology,Peking University, from September 2012 to June 2017 were enrolled. OKC samples from 10 patients diagnosed as naevoid basal cell carcinoma syndrome (NBCCS)-related OKC (4 females and 6 males) and 20 patients diagnosed as sporadic OKC (7 females and 13 males) were collected. Read More

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February 2022

Novel uses of laser therapy in Goltz syndrome.

Dermatol Ther 2022 May 17;35(5):e15371. Epub 2022 Feb 17.

Department of Dermatology, Complejo Hospitalario Universitario A Coruña, A Coruña, Spain.

Goltz syndrome is an X-linked dominant, multisystem birth defect due to PORCN mutation. The skin findings follow Blaschko's lines and often show epidermal atrophy and herniation of subcutaneous fatty tissue. Regarding treatment, light sources can offer a good therapeutic option for some manifestations of this rare disease and improve the aesthetic appearance of the skin lesions. Read More

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