The role of the dentist and the orthodontist in early diagnosis of Gorlin-Goltz syndrome: a cephalometric and photometric study.

AIM: The aim of this study was to analyse the facial characteristics and the craniofacial morphology in GGS patients in order to enable an early diagnosis. BACKGROUND: Gorlin-Goltz syndrome (GGS) is a autosomic dominant disease, characterised by basal cell carcinoma, palmar/plantar pits, maxillary and mandibular keratocysts and dental abnormalities. METHODS: Nine out of a sample of 24 GGS patients had complete cephalometric and photographic records at an average age of 8.7 years. Cephalometric and photometric analysis were carried out with standard analyses and compared with healthy patients matched for sex and age. CONCLUSION: Early diagnosis of GGS based on clinical features could be useful to identify the presence of keratocysts through x-ray examination proceeding with surgical removal at an early stage, limiting space occupying damages.

Concurrent medulloblastoma and cardiac fibroma: a rare presentation of Gorlin-Goltz syndrome.

BACKGROUND: Gorlin-Goltz syndrome is a rare autosomal dominant disorder resulting from PTCH1 gene mutation and presents with variable clinical manifestations. The co-occurrence of medulloblastoma and cardiac fibroma in Gorlin-Goltz syndrome is extremely rare. The present article discusses a patient diagnosed with Gorlin-Goltz syndrome and concurrent medulloblastoma and cardiac fibroma. CASE PRESENTATION: A 19-month-old boy transferred to our hospital after a radiological finding of posterior fossa lesion and hydrocephalus. A pericardial mass was noted after persistent arrhythmias. Both tumors were excised for definitive management. The histopathological sections were diagnostic of desmoplastic nodular medulloblastoma, WHO grade 4 and cardiac fibroma. Molecular and genetic investigations confirmed a pathogenic variant of PTCH1 gene, suggestive of autosomal dominant Gorlin-Goltz syndrome. CONCLUSION: Co-occurrence of medulloblastoma and cardiac fibroma is extremely rare and poses a management dilemma. Genetic counseling and antenatal screening are of utmost importance to early detect and manage patients with Gorlin-Goltz syndrome.

Clinical, radiographic, pathological and inherited characteristics of odontogenic keratocyst in nevoid basal cell carcinoma syndrome: a study in three Chilean families.

INTRODUCTION: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition characterized by the development of odontogenic keratocyst (OKC), basal cell carcinomas and palmar-plantar pits among other conditions. Reports about Latin American population are scarce. OBJECTIVE: To analyze the clinical, radiographic, histopathologic and inherited features of odontogenic keratocyst and palmar pits in three Chilean families with nevoid basal cell carcinoma syndrome. MATERIAL AND METHODS: After histopathologic diagnosis of OKC, notified consent was requested and evaluation of the affected patients and their families was done. RESULTS: Two families appeared to have only one affected adolescent, and both of them were considered de novo cases. In the third family, three affected members participated in this study, with an autosomal dominant presentation. All affected patients had OKC and palmar pits. Basal cell carcinomas were present only among adult patients. All examined patients were from Latin American ethnic groups. CONCLUSIONS: Patients with NBCCS had single or multiple OKCs that were located more frequently in the mandibular area. One family had autosomal dominant inheritance and the other two families were de novo cases. None of the three teenage patients had basal cell carcinomas.

Utility of optical coherence tomography in basal cell naevus syndrome: A case report.

Optical Coherence Tomography (OCT) is a useful non-invasive diagnostic tool for diagnosing and monitoring treatment of basal cell carcinomas. We describe the use of OCT in a patient with Basal Cell Naevus Syndrome. Through measuring tumour depth on OCT, management of individual tumours was triaged accordingly using 0.4 mm tumour depth as a cut-off for surgical and non-surgical management. OCT has potential to reduce unnecessary excisions and associated morbidity in this population of patients.

Queratoquistes odontogénicos maxilares en paciente con síndrome de Gorlin. Descripción de un caso y revisión de la literatura / Maxillary odontogenic keratocysts in a Gorlin síndrome patient: Case report and literatura review

Los queratoquistes maxilares son frecuentes en pacientes con síndrome de Gorlin. Su tratamiento es debatido por su alta tendencia a la recidiva. En los últimos años la cirugía endoscópica nasosinusal ha adquirido importancia en el manejo de esta patología. Exponemos en caso de un varón de 16 años afecto de este síndrome con queratoquistes maxilares donde se realiza un abordaje combinado, endonasal y transoral.

Maxillary keratocysts are frequent in Gorlin Syndrome patients. Its treatment is discussed due to the high tendency to recurrence. In the last years the sinonasal endoscopic surgery has become an important tool in the management of this pathology. We report a 16 years old boy with Gorlin Syndrome and maxillary keratocysts treated with a trans-nasal endoscopic and intra-oral combined approach.

Cardiac fibroma with cardiac arrest: a rare clinical presentation of Gorlin syndrome in an 8-month-old infant.

Paediatric cardiac tumours are rare, often benign and carry associations with genetic conditions. Cardiac fibromas are mainly composed of fibroblast and connective tissue . They can lead to symptoms due to obstruction of blood flow or arrythmias. In this case, we report an 8-month-old girl child who presented to paediatric cardiology office for cardiac evaluation given a family history of Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, found to have a large 4×4×6 cm fibroma in the apical lateral free wall of the left ventricle and later presented to the emergency department with cardiac arrest.

Fluorine 18 Fluorodeoxyglucose PET/CT Findings in Gorlin-Goltz Syndrome.

Online supplemental material is available for this article.

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

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. Considering the complexity of the clinical manifestations, a multidisciplinary approach is necessary for the diagnosis and follow-up of patients with NBCCS. CASE REPORT We report the case of a 27-year-old woman who presented with multiple maxillary and mandibular OKCs, as well as mandibular dentigerous cysts, all detected by X-ray. The medical records of the patient reported other findings such as falx cerebri calcification, osteolysis in femoral bones, and focal bone alteration suggestive of simple bone cysts. Based on the presented manifestations, it was concluded that the patient had characteristics of NBCCS. A multidisciplinary approach was necessary, and odontological intervention was used in managing treatment of the jaw cysts. CONCLUSIONS In view of this combination of findings, it is of primary importance for dental surgeons and physicians to be able to recognize the signs and symptoms of NBCCS in order to achieve an early diagnosis and avoid the progression of oral cysts, the metastasis of skin lesions, and progression of other less frequent manifestations.

Neuroimaging in infants and children in select neurocutaneous disorders.

The role of neuroimaging in neurocutaneous disorders is an evolving field. Research can be inconsistent and inconclusive, leading to divergent practice for some disorders. This study provides an overview of the current role of magnetic resonance imaging (MRI) of the brain in select neurocutaneous disorders, namely Sturge-Weber syndrome, congenital melanocytic naevus syndrome, neurofibromatosis type 1, tuberous sclerosis complex, incontinentia pigmenti and basal cell naevus syndrome. Future research assessing new targeted treatments and novel MRI techniques may change current practice.

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

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. Gorlin-Goltz syndrome is characterised by the development of bilateral, multiple ovarian fibromas in 14-24% of patients. Ovarian steroid cell tumours and broad ligament papillary cystadenomas are characteristically found in women with von Hippel-Lindau syndrome. Recent studies have allowed the characterisation of tumour genetics and associated oncological pathways that contribute to tumourigenesis. Implications of the diagnosis of these syndromes on screening, management, and prognosis are discussed.

Síndrome de Gorlin-Goltz; a propósito de un caso / Gorlin-Goltz syndrome; a clinical case

El síndrome de Gorlin-Goltz (SGG) es también conocido como síndrome névico basocelular o síndrome del carcinoma nevoide basocelular. Fue mencionado por primera vez en 1894 por los doctores Jarish y White y fue descrito en 1960 por Robert J. Gorlin. Es un raro trastorno autosómico dominante, ocasionado por una mutación sufrida en el gen Patched 1 (PTCH1) ubicado en el cromosoma 9q223 (este gen desempeña un papel en la supresión tumoral, la estructuración embrionaria y el ciclo celular), que se caracteriza por defectos en el desarrollo y por elevar de manera significativa la predisposición a padecer algún tipo de cáncer. Su prevalencia es variable según el país, pero está aceptada una media de 1:60.000 habitantes/año, siendo la relación hombre/mujer de 1: 0,621. El diagnóstico del SGG puede resultar complejo debido a la variabilidad en la expresividad del síndrome y en la edad de presentación. La manifestación más común en la cavidad oral son los queratoquistes, lesiones que aparecen hasta en el 90% de los pacientes

Gorlin-Goltz Syndrome (GGS) is also known as basal cell nevus syndrome or nevoid basal cell carcinoma syndrome. It was first mentioned in 1894 by Doctors Jarish and White and described in 1960 by Robert J. Gorlin. It is a rare autosomal dominant condition, caused by a mutation suffered in the PTCH1 gene (Patched 1) located on chromosome 9q223 (this gene plays a role in tumour suppression, embryonic structuring and the cell cycle). It is characterised by defects in development and a significantly increased predisposition to suffering from some type of cancer. Its prevalence varies according to the country, but an average of 1 per 60,000 population/year is accepted, with the male/female ratio being 1:0.621. Diagnosing GGS can be complex due to the variability in the expressiveness of the syndrome and the age of presentation. The most common manifestation is the appearance of keratocysts in the oral cavity, which appear in up to 90% of patients

Gorlin-Goltz Syndrome with Intracranial Meningioma: Case Report and Review of Literature.

BACKGROUND: Gorlin-Goltz syndrome is a rare hereditary disease affecting multiple organ systems. Medulloblastoma is the most common intracranial malignancy in these patients, radiotherapy makes them more susceptible to intracranial meningioma. Here we report an intracranial meningioma without radiation exposure. CASE DESCRIPTION: We present a case of intracranial meningioma in a young woman who was postoperatively diagnosed to have Gorlin-Goltz syndrome based on presence of calcification of bilateral tent and falx. Further clinical and radiological assessment helped us identify many other syndromic features and patient was promptly advised multispecialty consultations to screen for other malignancies and counselled regarding risk factors. CONCLUSIONS: Early identification of the syndrome is important for prevention of secondary radiation-induced malignancies, both intracranial and extracranial. Patients need multidisciplinary approach for management.

Gorlin syndrome in a patient with skin type VI.

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder that is characterized by multiple basal cell carcinomas developing at a young age, keratocystic odontogenic tumors of the jaw, palmar or plantar pits, calcification of the falx cerebri, and skeletal abnormalities. Nevoid basal cell carcinoma syndrome is caused by mutations in the PTCH1 or SUFU genes. Our patient with Fitzpatrick skin type VI was diagnosed with Gorlin syndrome based on the presentation of multiple major diagnostic characteristics. Although he is 33 years old, he has not developed any multiple basal cell carcinomas to date.

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst. These clinical findings were compatible with the diagnosis of NBCCS, and a novel mutation, c.1249delC; p.Gln417Lysfs*15, was found in PTCH1 causing a premature stop codon.