Gorlin’s syndrome

INTRODUCTION: Conventional methods of basal cell carcinomas (BCC) treatment bring many severe side effects, especially, if they are repeated many times. The aim of this study is to present the clinical effectiveness of photodynamic method in the treatment and prevention of BCC relapses on the face and to propose a management algorithm. METHODS: In a patient with Gorlin-Goltz syndrome (NBCCS) lesions on the face were assessed clinically and with photodynamic diagnostics (PDD), initially and in follow-up every 3 months, for a total of 12 months...

BACKGROUND Following craniospinal irradiation in children with medulloblastoma, secondary neoplasms are among the most serious long-term sequelae that include leukemias and solid tumors of the urinary or digestive tracts, thyroid, skin, and central nervous system. Furthermore, in children with Gorlin syndrome following craniospinal irradiation for medulloblastoma, there is a rising incidence of skin and non-skin malignancies. CASE REPORT The patient in the present study was a 19-year-old female who was treated with craniospinal irradiation and chemotherapy following gross total resection (GTR) for medulloblastoma at the age of 4 years...

Sex cord Stromal are neoplasms containing granulosa, Sertoli, and Leydig cells. The problem usually occurs among females that are hormonally active and is associated to Gorlin-Goltz syndrome. The present study reports a 37-year-old male was referred to Urologist due to a firm right testicular mass for which orchiectomy was performed. Tumor markers were all within normal range. Histopathological examination revealed compact spindle tumor involving the rete-testis in keeping with pure fibrothecoma. The results of the given study are valuable for medical professionals related to the field of urology and pathology...

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with several neurological, cutaneous and skeletal manifestations. Epilepsy has been previously reported as a finding in Gorlin-Goltz syndrome but remains ill-described in the context of this disease. We report two new patients with Gorlin-Goltz syndrome featuring epilepsy and review the existing literature on the topic.

Gorlin syndrome is a skeletal disorder caused by a gain of function mutation in Hedgehog (Hh) signaling. The Hh family comprises of many signaling mediators, which, through complex mechanisms, play several important roles in various stages of development. The Hh information pathway is essential for bone tissue development. It is also the major driver gene in the development of basal cell carcinoma and medulloblastoma. In this review, we first present the recent advances in Gorlin syndrome research, in particular, the signaling mediators of the Hh pathway and their functions at the genetic level...

Meier-Gorlin syndrome (MGS) is a rare, autosomal recessive disorder characterized by microtia, primordial dwarfism, small ears, and skeletal abnormalities. Patients with MGS often carry mutations in genes encoding the subunits of the Origin Recognition Complex (ORC), components of the prereplicative complex and replication machinery. Orc6 is an important component of ORC and has functions in both DNA replication and cytokinesis. A mutation in the conserved C-terminal motif of Orc6 associated with MGS impedes the interaction of Orc6 with core ORC...

Basal cell nevus syndrome, also known as Gorlin syndrome, is a hereditary cancer syndrome associated with multiple basal cell carcinomas, congenital defects, and nondermatologic tumors. This disease is autosomal dominant with variable expressivity and is caused by abnormalities in the sonic hedgehog signaling pathway. Management requires a multidisciplinary approach and should include the biopsychosocial needs of patients and their families. Genetic testing is necessary to confirm an unclear diagnosis, evaluate at-risk relatives, and assist with family planning...

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 tumors in clinical practice...

The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms phakoma/phakomata (from the old Greek word "ϕαχοσ" = lentil, spot, lens-shaped) to define similar retinal lesions recorded in tuberous sclerosis (1920) and in neurofibromatosis (1923). He later applied this concept: (a) to similar lesions in other organs (e.g. brain, heart and kidneys) (1932) and (b) to other disorders (i.e. von Hippel-Lindau disease and Sturge-Weber syndrome) (1933), and coined the term phakomatoses...

PURPOSE: To investigate the incidence rate of hereditary disease in patients with medulloblastoma. METHODS: The genetic reports of 129 patients with medulloblastoma from January 2016 to December 2019 were retrospectively analyzed. A panel sequence of 39 genes (Genetron Health) were used for all patients to evaluate the tumor subgroup. Four genes (TP53, APC, PTCH1, SUFU) were screened to routinely rule out germline mutation. RESULTS: Five patients (3...

Congenital stapes fixation is characterized by congenital conductive hearing loss that is not progressive. This rare disease may be accompanied by additional middle ear anomalies. However, the occurrence of congenital stapes fixation with cleft palate and oligodontia was described by Gorlin et al. in 1973, and no further cases have been reported in the literature. Congenital stapes fixation was detected after the exploratory tympanotomy operation performed on a 15-year-old male patient admitted to our clinic with hearing loss, more prominent on the left...

Both Gorlin-Goltz syndrome and Sotos syndrome are rare genetic conditions showing variable expressiveness. They both are inherited in an autosomal dominant pattern. Since these conditions tend to be multisystemic disorders, the familiarity of various medical specialists with its manifestations may reduce the time necessary for providing a diagnosis, better differentiation of these two conditions, or even the co-existence of two syndromes.

The nevoid basal cell carcinoma syndrome (NBCCS), also called Gorlin syndrome is an autosomal dominant disorder whose incidence is estimated at about 1 per 55,600-256,000 individuals. It is characterized by several developmental abnormalities and an increased predisposition to the development of basal cell carcinomas (BCCs). Cutaneous fibroblasts from Gorlin patients have been shown to exhibit an increased sensitivity to ionizing radiations. Mutations in the tumor suppressor gene PTCH1 , which is part of the Sonic Hedgehog (SHH) signaling pathway, are responsible for these clinical manifestations...

No abstract text is available yet for this article.

Gorlin syndrome (GS) is an autosomal dominant genetic disorder involving Patched 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). Because PTCH1 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 (G-OFiPSCs) which were generated and reported previously...

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 formed tumors in mouse cerebellum mimicking human medulloblastoma. Retransplantation of tumor-isolated NES (tNES) cells resulted in accelerated tumor formation, cells with reduced growth factor dependency, enhanced neurosphere formation in vitro, and increased sensitivity to Vismodegib...

No abstract text is available yet for this article.

The aim of the present study was evaluating the effects and safety of new laser light source in PDD and PDT of basal cell carcinoma, BCC. The patients presented challenging localizations of the tumor or tumor combined with Gorlin syndrome. The PDD and PDT was performed in 50 patients with 54 histologically confirmed BCCs. The photosensitizer precursor, 5-ALA in cream, was used and the tumors were then illuminated, for PDD at 405 nm, and for PDT at 638 nm by means of newly designed laser. The novel feature of the laser was the combination of violet and red light in a single fiber output which enabled us to perform PDD and PDT alternatingly...

Two genetic diseases, Gorlin syndrome and McCune-Albright syndrome (MAS), show completely opposite symptoms in terms of bone mineral density and hedgehog (Hh) activity. In this study, we utilized human induced pluripotent stem cell (iPSC)-based models of the two diseases to understand the roles of Hh signaling in osteogenesis. Gorlin syndrome-derived iPSCs showed increased osteoblastogenesis and mineralization with Hh signaling activation and upregulation of a set of transcription factors in an osteogenic culture, compared with the isogenic control...

Gorlin syndrome is a rare autosomal dominant hereditary disease with a high incidence of tumors such as basal cell carcinoma and medulloblastoma. Disease-specific induced pluripotent stem cells (iPSCs) and an animal model have been used to analyze disease pathogenesis. In this study, we generated iPSCs derived from fibroblasts of four patients with Gorlin syndrome (Gln-iPSCs) with heterozygous mutations of the PTCH1 gene. Gln-iPSCs from the four patients developed into medulloblastoma, a manifestation of Gorlin syndrome, in 100% (four out of four), of teratomas after implantation into immunodeficient mice, but none (0/584) of the other iPSC-teratomas did so...