RESUMEN
Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is a rare condition characterised by skeletal abnormalities, odontogenic keratocysts and basal cell nevi. Diagnosis of this condition is based on major and minor clinical and radiological criteria. Oral medicine and radiology specialists are crucial in diagnosing this condition due to the oral and maxillofacial symptoms. However, conventional radiographs may not provide enough information for an accurate diagnosis, including the two-dimensional imaging modalities. Therefore, the importance of advanced digital imaging for diagnosis is highlighted in this case report of a male patient in his late 20s. The patient had missing teeth and asymptomatic multiple swelling in the orofacial region for 2 months. Routine clinical examination, radiographic investigations and histopathological evaluation led to incidental finding of multiple cystic lesions in the maxillary and mandibular region which on further evaluation led to the final diagnosis of Gorlin-Goltz syndrome.
Asunto(s)
Síndrome del Nevo Basocelular , Hallazgos Incidentales , Humanos , Síndrome del Nevo Basocelular/diagnóstico , Síndrome del Nevo Basocelular/diagnóstico por imagen , Masculino , Adulto , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/diagnóstico por imagen , Diagnóstico DiferencialRESUMEN
BACKGROUND: To demonstrate and analyze the 18F-FDG positron emission tomography/computed tomography (PET/CT) findings in this rare nevoid basal cell carcinoma syndrome (NBCCS). CASE PRESENTATION: A 71-year-old woman with the left invasive breast cancer was treated with hormone therapy for six months and underwent the 18F-FDG PET/CT examination for efficacy evaluation. 18F-FDG PET/CT revealed the improvement after treatment and other unexpected findings, including multiple nodules on the skin with 18F-FDG uptake, bone expansion of cystic lesions in the bilateral ribs, ectopic calcifications and dilated right ureter. She had no known family history. Then, the patient underwent surgical excision of the all skin nodules and the postoperative pathology were multiple basal cell carcinomas. Finally, the comprehensive diagnosis of NBCCS was made. The patient was still in follow-up. Additionally, we have summarized the reported cases (n = 3) with 18F-FDG PET/CT from the literature. CONCLUSIONS: It is important to recognize this syndrome on 18F-FDG PET/CT because of different diagnoses and therapeutic consequences.
Asunto(s)
Síndrome del Nevo Basocelular , Fluorodesoxiglucosa F18 , Tomografía Computarizada por Tomografía de Emisión de Positrones , Humanos , Femenino , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Anciano , Síndrome del Nevo Basocelular/diagnóstico por imagen , Síndrome del Nevo Basocelular/diagnóstico , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/patología , Neoplasias de la Mama/diagnóstico , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , RadiofármacosRESUMEN
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.
Asunto(s)
Síndrome del Nevo Basocelular , Quistes Odontogénicos , Humanos , Niño , Síndrome del Nevo Basocelular/diagnóstico por imagen , Síndrome del Nevo Basocelular/patología , Ortodoncistas , Mandíbula , CefalometríaRESUMEN
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.
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Síndrome del Nevo Basocelular , Neoplasias Cerebelosas , Fibroma , Meduloblastoma , Embarazo , Masculino , Humanos , Femenino , Lactante , Síndrome del Nevo Basocelular/complicaciones , Síndrome del Nevo Basocelular/diagnóstico por imagen , Síndrome del Nevo Basocelular/genética , Meduloblastoma/complicaciones , Meduloblastoma/diagnóstico por imagen , Meduloblastoma/genética , Fibroma/complicaciones , Fibroma/diagnóstico por imagen , Fibroma/cirugía , Neoplasias Cerebelosas/complicaciones , Neoplasias Cerebelosas/diagnóstico por imagen , Neoplasias Cerebelosas/genéticaAsunto(s)
Síndrome del Nevo Basocelular , Fibroma , Neoplasias Cardíacas , Humanos , Síndrome del Nevo Basocelular/complicaciones , Síndrome del Nevo Basocelular/diagnóstico por imagen , Fibroma/complicaciones , Fibroma/diagnóstico por imagen , Fibroma/cirugía , Neoplasias Cardíacas/complicaciones , Neoplasias Cardíacas/diagnóstico por imagen , Neoplasias Cardíacas/cirugía , PacientesRESUMEN
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.
Asunto(s)
Síndrome del Nevo Basocelular , Carcinoma Basocelular , Quistes Odontogénicos , Tumores Odontogénicos , Neoplasias Cutáneas , Adulto , Adolescente , Humanos , Síndrome del Nevo Basocelular/diagnóstico por imagen , Síndrome del Nevo Basocelular/genética , Chile , Quistes Odontogénicos/diagnóstico por imagen , Quistes Odontogénicos/genética , Tumores Odontogénicos/diagnóstico por imagen , Tumores Odontogénicos/genéticaRESUMEN
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.
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Síndrome del Nevo Basocelular , Carcinoma Basocelular , Neoplasias Cutáneas , Humanos , Neoplasias Cutáneas/patología , Síndrome del Nevo Basocelular/diagnóstico por imagen , Tomografía de Coherencia Óptica/métodos , Carcinoma Basocelular/patologíaRESUMEN
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.
Asunto(s)
Humanos , Masculino , Adolescente , Síndrome del Nevo Basocelular/cirugía , Enfermedades Maxilares/cirugía , Quistes Odontogénicos/cirugía , Síndrome del Nevo Basocelular/diagnóstico por imagen , Enfermedades Maxilares/diagnóstico por imagen , Quistes Odontogénicos/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Endoscopía/métodosRESUMEN
Online supplemental material is available for this article.
Asunto(s)
Síndrome del Nevo Basocelular/diagnóstico por imagen , Quistes Odontogénicos/diagnóstico por imagen , Neoplasias Ováricas/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Adolescente , Síndrome del Nevo Basocelular/cirugía , Calcinosis/diagnóstico por imagen , Duramadre/diagnóstico por imagen , Femenino , Fluorodesoxiglucosa F18 , Humanos , Imagen por Resonancia Magnética , Neoplasias Ováricas/cirugía , RadiofármacosRESUMEN
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.
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Síndrome del Nevo Basocelular , Fibroma , Paro Cardíaco , Neoplasias Cardíacas , Síndrome del Nevo Basocelular/diagnóstico , Síndrome del Nevo Basocelular/diagnóstico por imagen , Niño , Femenino , Fibroma/complicaciones , Fibroma/diagnóstico por imagen , Fibroma/cirugía , Neoplasias Cardíacas/complicaciones , Neoplasias Cardíacas/diagnóstico por imagen , Ventrículos Cardíacos , Humanos , LactanteRESUMEN
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.
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Síndrome del Nevo Basocelular , Quistes Odontogénicos , Adulto , Síndrome del Nevo Basocelular/diagnóstico por imagen , Diagnóstico Precoz , Femenino , Estudios de Seguimiento , Humanos , RadiografíaRESUMEN
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.
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Síndromes Neoplásicos Hereditarios/diagnóstico por imagen , Síndromes Neoplásicos Hereditarios/genética , Neoplasias Ováricas/diagnóstico por imagen , Neoplasias Ováricas/genética , Síndrome del Nevo Basocelular/diagnóstico por imagen , Síndrome del Nevo Basocelular/genética , Síndrome del Nevo Basocelular/patología , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Carcinoma Epitelial de Ovario/diagnóstico por imagen , Carcinoma Epitelial de Ovario/genética , Carcinoma Epitelial de Ovario/patología , Neoplasias Colorrectales Hereditarias sin Poliposis/diagnóstico por imagen , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/patología , ARN Helicasas DEAD-box/genética , Femenino , Genes BRCA1 , Genes BRCA2 , Mutación de Línea Germinal , Humanos , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/genética , Neoplasias Renales/patología , Síndromes Neoplásicos Hereditarios/patología , Neoplasias Ováricas/patología , Síndrome de Peutz-Jeghers/diagnóstico por imagen , Síndrome de Peutz-Jeghers/genética , Síndrome de Peutz-Jeghers/patología , Blastoma Pulmonar/diagnóstico por imagen , Blastoma Pulmonar/genética , Blastoma Pulmonar/patología , Tumor Rabdoide/diagnóstico por imagen , Tumor Rabdoide/genética , Tumor Rabdoide/patología , Ribonucleasa III/genética , Enfermedad de von Hippel-Lindau/diagnóstico por imagen , Enfermedad de von Hippel-Lindau/genética , Enfermedad de von Hippel-Lindau/patologíaRESUMEN
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.
Asunto(s)
Imagen por Resonancia Magnética , Síndromes Neurocutáneos/diagnóstico por imagen , Neuroimagen , Síndrome del Nevo Basocelular/diagnóstico por imagen , Niño , Humanos , Incontinencia Pigmentaria/diagnóstico por imagen , Lactante , Imagen por Resonancia Magnética/efectos adversos , Neurofibromatosis 1/diagnóstico por imagen , Neuroimagen/efectos adversos , Nevo Pigmentado/diagnóstico por imagen , Factores de Riesgo , Neoplasias Cutáneas/diagnóstico por imagen , Síndrome de Sturge-Weber/diagnóstico por imagen , Esclerosis Tuberosa/diagnóstico por imagenRESUMEN
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.
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Síndrome del Nevo Basocelular/complicaciones , Neoplasias Meníngeas/complicaciones , Meningioma/complicaciones , Adulto , Síndrome del Nevo Basocelular/diagnóstico por imagen , Síndrome del Nevo Basocelular/cirugía , Craneotomía , Femenino , Humanos , Imagen por Resonancia Magnética , Neoplasias Meníngeas/diagnóstico por imagen , Neoplasias Meníngeas/cirugía , Meningioma/diagnóstico por imagen , Meningioma/cirugía , Resultado del TratamientoAsunto(s)
Síndrome del Nevo Basocelular/complicaciones , Neoplasias Meníngeas/complicaciones , Meningioma/complicaciones , Síndrome del Nevo Basocelular/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Neoplasias Meníngeas/diagnóstico por imagen , Meningioma/diagnóstico por imagen , Persona de Mediana EdadRESUMEN
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.