Gorlin syndrome

The occurrence of central nervous system malignancies is relatively low; however, these tumors exhibit poor prognosis and a high mortality rate. On epidemiological grounds, Hungary was placed in the last third among European countries: in the last decade annually 750 to 1000 new cases were diagnosed and the number of deaths was between 550 and 690, without any apparent trends. Age distribution analyses revealed childhood peak and a higher peak at around 65 years of age. Histologically, heterogeneity was apparent, but at least half of the cases were glioblastomas...

INTRODUCTION AND IMPORTANCE: The association between Dentigerous cysts (DCs) and Gorlin-Goltz syndrome (GGS) was claimed theoretically in a very few reports, with very few clinical foundations. The aim of this report was to present a unique case of multiple DCs in the mandible in a patient showing features of GGS. CASE PRESENTATION: A 63-year-old male patient presented with multiple cyst-like lesions in the mandible associated with some clinical and radiological features of GGS, and that raised the suspension of odontogenic keratocyst (OKC)...

Basal cell carcinoma (BCC) is the most common skin cancer, for which there are multiple treatment options, including the gold standard Mohs micrographic surgery (MMS), surgical excision, electrodesiccation and curettage, radiation therapy, cryosurgery, and photodynamic therapy (PDT). While PDT is currently approved for treating actinic keratosis, it has been used off-label to treat BCC patients who may not tolerate surgery or other treatment modalities. We present a review of the efficacy of these modalities and describe important considerations that affect the usage of PDT and MMS...

Gorlin-Goltz syndrome, also known as Gorlin syndrome, basal cell nevus syndrome, and nevoid basal cell carcinoma syndrome, is an autosomal dominant genetic disorder. Its hallmark is an early onset of basal cell carcinoma. Additionally, the syndrome is characterized by a spectrum of distinct clinical attributes encompassing oral, skeletal, ophthalmic, neurological, and developmental aberrations. This condition arises due to anomalies in the Hedgehog signaling pathway, leading to constant pathway activity and uncontrolled growth of tumor cells...

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No abstract text is available yet for this article.

BACKGROUND: The lifetime risk for basal carcinoma (BCC) is 90% in patients with Gorlin syndrome, also known as basal cell nevus syndrome. Compared with non-Gorlin patients, Gorlin patients often develop BCCs at a younger age and in greater numbers up to 500 BCCs in a lifetime. OBJECTIVE: To review the options available for Gorlin patients and highlight existing knowledge gaps where future studies are indicated to optimize the care of this unique population. METHODS: We review the current literature on managing patients with Gorlin syndrome from the lens of a dermatologic surgeon...

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as basal cell carcinomas, keratocystic odontogenic tumors and skeletal abnormalities. Bilateral and/or unilateral ovarian fibromas have been reported in individuals diagnosed with NBCCS. CASE PRESENTATION: A 22-year-old female, presented with low back pain, and was found to have bilateral giant adnexal masses on pelvic ultrasonography, which had been suspected to be malignant ovarian tumors...

Nevoid basal-cell carcinoma syndrome (Gorlin syndrome) is characterized by numerous cutaneous basal cell carcinomas mediated by mutations in the hedgehog pathway. Vismodegib or sonidegib represent promising treatment options. We identified 10 Gorlin patients who were treated with sonidegib ( n = 6) or vismodegib ( n = 4) between March 2012 and March 2022. We analyzed the activity, toxicity, and duration of the response to oral hedgehog inhibitors. The number of new tumors that developed prior to treatment or after treatment as well as the time of response and durability of responses were assessed...

Gorlin-Goltz syndrome (GGS) among Indians is rarely reported. Since 1960, only 38 cases having 48 patients of Gorlin-Goltz syndrome have been identified in the Indian population. It is crucial to diagnose this illness early because it can be connected to a malignant lesion like fibrosarcoma, leiomyosarcoma or rhabdomyosarcoma. The four patients in this case series were identified and treated in our department between 2019 and 2023. The average patient age was around 20 years old. Jaw swelling and tooth movement were the two most typical presenting concerns...

Goltz-Gorlin syndrome (GGS), also known as focal dermal hypoplasia, is a rare X-linked disorder caused by pathogenic variants in the PORCN gene and characterized by several abnormalities, including skin and limb defects, papillomas in multiple organs, ocular malformations, and mild facial dysmorphism. To date, only approximately 300 cases have been described in the literature. A 16-year-old female patient, born with multiple congenital dysmorphisms consistent with GGS and confirmed by genetic exam, was referred to our outpatient clinic for the workup of a thyroid nodule...

Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare genetic condition characterized by the early development of numerous cutaneous basal cell carcinomas (BCCs). Although most BCCs are surgically treated with total resection, some of the lesions may proceed to a locally advanced or metastatic stage. Systemic treatment with a hedgehog inhibitors (HHIs) such as Vismodegib or Sonidegib is indicated in this population. We report cases of two patients with confirmed diagnoses of NBCCS. Both patients had undergone multiple surgical excisions and had been treated with oral Vismodegib 150 mg/day for a locally advanced tumour...

INTRODUCTION: Non-melanoma skin cancer within previously irradiated areas presents a common challenge, requiring innovative therapies. Complex scenarios, like XRT-induced basal cell carcinoma (BCC) or Gorlin's syndrome, often involve multiple synchronous tumor lesions where photodynamic therapy (PDT) offers a viable therapeutic alternative. CLINICAL CASE: We present the case of a 49-year-old male with a history of XRT for brain tumors. The patient was undergoing treatment for recurrent basal cell carcinomas (BCCs) in the right temporal irradiated area, unresponsive to conventional treatments...

DONSON is one of 13 genes mutated in a form of primordial microcephalic dwarfism known as Meier-Gorlin syndrome. The other 12 encode components of the CDC45-MCM-GINS helicase, around which the eukaryotic replisome forms, or are factors required for helicase assembly during DNA replication initiation. A role for DONSON in CDC45-MCM-GINS assembly was unanticipated, since DNA replication initiation can be reconstituted in vitro with purified proteins from budding yeast, which lacks DONSON. Using mouse embryonic stem cells as a model for the mammalian helicase, we show that DONSON binds directly but transiently to CDC45-MCM-GINS during S-phase and is essential for chromosome duplication...

Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the tumor suppressor gene PTCH1 with complete penetrance and variable expressivity characterized by a broad spectrum of developmental anomalies and a predisposition to neoplasms. Herein, we report a novel de novo splice site mutation in the PTCH1 gene related to mild developmental delay and autistic traits in a 4-year-old male patient.

OBJECTIVE: To analyze the genetic characteristics of a child with Meier-Gorlin syndrome (MGS) due to a homozygous variant of the ORC6 gene. METHODS: A child who was admitted to the Children's Hospital Affiliated to Soochow University on March 25, 2019 due to growth retardation was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis...

RATIONALE: Gorlin-Goltz syndrome (GGS) has a wide range of expressivity, with a majority of cases being first diagnosed from the oral findings. Early intervention can reduce its severity. PATIENT CONCERNS: The primary complaints of all the patients were pain and swelling. Clinical examination with radiological and histopathological evaluation confirmed the diagnosis. DIAGNOSIS: This series presents the six cases of GGS treated over a time frame of five years (2018-2022)...

Faithful cell division is the basis for the propagation of life and DNA replication must be precisely regulated. DNA replication stress is a prominent endogenous source of genome instability that not only leads to ageing, but also neuropathology and cancer development in humans. Specifically, the issues of how vertebrate cells select and activate origins of replication are of importance as, for example, insufficient origin firing leads to genomic instability and mutations in replication initiation factors lead to the rare human disease Meier-Gorlin syndrome...

The hedgehog (Hh) family consists of numerous signaling mediators that play important roles at various stages of development. Thus, the Hh pathway is essential for bone tissue development and tumorigenesis. Gorlin syndrome is a skeletal and tumorigenic disorder caused by gain-of-function mutations in Hh signaling. In this review, we first present the phenotype of Gorlin syndrome and the relationship between genotype and phenotype in bone and craniofacial tissues, including the causative gene as well as other Hh-related genes...

This retrospective registry-based cohort study aimed to estimate the incidence and prevalence of genodermatoses in the Swedish population and to analyse associated healthcare usage. Patients diagnosed with genodermatoses were identified from the patient registry of Sahlgrenska University Hospital (Gothenburg, Sweden) between 2016 and 2020. Clinical data from medical records were used to verify diagnoses recorded in the National Patient Registry (NPR). The NPR was then searched for International Classification of Diseases, Tenth Revision (ICD-10) codes Q80-82 and Q84 from 2001 to 2020...