Genetic mutations in Gorlin-Goltz syndrome

This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management.
Source: Indian Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Source Type: research

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William ’s syndrome is a well-defined genetic disorder due to a microdeletion on chromosome 7. It is most commonly characterized by cardiovascular defects, electrolyte abnormalities, and abnormal facies. Cutaneous manifestations of this syndrome are uncommonly discussed in the literature, and its possible association with various basal cell carcinoma syndromes is even less well established. Specifically, the hereditary basal cell carcinoma syndromes that have a well-established genetic basis—nevoid basal cell carcinoma syndrome, xeroderma pigmentosum, Bazex-Dupre-Christol syndrome, and Rombo syndr ome—sho...
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research
Medulloblastoma is the most common childhood malignant brain tumor and is considered a minor criterion in the diagnosis of nevoid basal cell carcinoma syndrome (NBCCS). Metastasis of this primitive neuroectodermal tumor is commonly neuraxial; however, extra-neuraxial metastasis have been documented in the literature. Extra-neuraxial metastasis to the jaws is a rare occurrence with only eight cases previously described in the literature. This case documents a unique case of metastatic medulloblastoma to the mandible in a patient previously diagnosed with NBCCS.
Source: Journal of Oral and Maxillofacial Surgery - Category: ENT & OMF Authors: Tags: Case Report Source Type: research
Publication date: July 2019Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, Volume 128, Issue 1Author(s): Dr. Moni Ahmadian, Dr. Paul Freedman, Dr. Renee ReichOdontogenic keratocyst (OKC) is a developmental cyst of the gnathic bones arising from the rests of dental lamina. This cyst demonstrates propensity for aggressive behavior and a relative high rate of recurrence compared to the other odontogenic cysts. Ameloblastoma is a benign neoplasm of odontogenic epithelium. It is the most common clinically significant odontogenic tumor that may demonstrate a locally aggressive clinical behavior. Ameloblas...
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
CONCLUSIONS: Our results show that vismodegib therapy is effective in the treatment of BCC; however, side effects are often severe. Since the suspension of treatment can lead to therapy resistance, the management of side effects is of great importance. PMID: 31039644 [PubMed - as supplied by publisher]
Source: Journal of Dermatological Treatment - Category: Dermatology Tags: J Dermatolog Treat Source Type: research
CONCLUSION The presented retrospective review adds to limited available reported studies regarding BCC in African Americans to potentially aid in early recognition of these tumors.
Source: Dermatologic Surgery - Category: Dermatology Tags: Original Article Source Type: research
AbstractNevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the development of multiple jaw keratocysts and basal cell carcinomas (BCC) and accompanied by diverse phenotypes. The establishment of diagnosis lies on the identification of a heterozygous germline pathogenic variant in the patched homolog 1 gene (PTCH1).PTCH1 has alternative splicing and selective initial coding exon, leading to three types of encoding proteins (PTCHL, PTCHM and PTCHS). The expression of each protein in NBCCS remains ambiguous, especially the importance of the first two exons in translation. Here, ...
Source: Medical Molecular Morphology - Category: Molecular Biology Source Type: research
Abstract Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the development of multiple jaw keratocysts and basal cell carcinomas (BCC) and accompanied by diverse phenotypes. The establishment of diagnosis lies on the identification of a heterozygous germline pathogenic variant in the patched homolog 1 gene (PTCH1). PTCH1 has alternative splicing and selective initial coding exon, leading to three types of encoding proteins (PTCHL, PTCHM and PTCHS). The expression of each protein in NBCCS remains ambiguous, especially the importance of the first two exons in translat...
Source: Molecular Medicine - Category: Molecular Biology Authors: Tags: Med Mol Morphol Source Type: research
In this study, we present a rare case of GGS in a mother and her daughter. The purpose of this study is to discuss the role of a dentist in early detection and the need for a multidisciplinary approach for the treatment of this syndrome.
Source: Journal of Oral and Maxillofacial Pathology - Category: ENT & OMF Authors: Source Type: research
Odontogenic keratocysts (OKC) can occur in isolation or as part of nevoid basal cell carcinoma syndrome (NBCCS). Subjects with NBCCS are younger at OKC diagnosis than those with non-syndromic OKC (NS-OKC). The purpose of this study was to determine the prevalence of undiagnosed NBCCS in children who present with an OKC and to assess differences in demographic and presenting features between children with NBCCS and those with NS-OKC.
Source: Journal of Oral and Maxillofacial Surgery - Category: ENT & OMF Authors: Source Type: research
Abstract Skin cancer has become the most common type of cancer worldwide as a result of environmental exposure and medical treatments. A small group of patients are genetically predisposed to skin cancer and this article is intended as a diagnostic tool when encountering patients with multiple skin cancer lesions. The disorders are described with clinical characteristics, genetics and management. The most common syndromes associated with basal cell carcinoma are: Gorlin-Goltz syndrome, Rombo syndrome, and Bazex-Dupré-Christol syndrome. Multiple squamous cell carcinomas can be related to: xeroderma pigmentos...
Source: Acta Dermato-Venereologica - Category: Dermatology Authors: Tags: Acta Derm Venereol Source Type: research
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