Diagnosis Of Gorlin-Goltz Syndrome Research Articles

Headache as the presenting manifestation of Gorlin-Goltz syndrome with diastematomyelia: A case report.

Gorlin-Goltz syndrome (GGS) is an autosomal dominant multisystemic disease with high penetrance. Headache heralding GGS has been previously reported but without discussing potential sources. We report a patient with headache and a novel association (diastematomyelia), which helped with the diagnosis. A 46-year-old woman presented with persistent holocranial headache. On examination, countless hyperpigmented basal cell nevi over the face, pits over the palmar/plantar surface, and palmar and plantar keratosis were observed. A magnetic resonance imaging (MRI) of the spinal cord revealed diastematomyelia. Diagnosis of GGS was finally made. Headache and diastematomyelia should be included in the clinical picture of GGS.

A Novel PTCH1 Mutation in Patient with Gorlin-Goltz Syndrome and its Management, A Case Report

Gorlin-Goltz syndrome (GS), also known as nevoid basal cell carcinoma syndrome or basal cell naevus syndrome, is a rare autosomal dominant hereditary disease characterized by systemic and diverse developmental abnormalities and neoplastic lesions [1]. Patients with Gorlin-Goltz syndrome develop commonly multiple odontogenic keratocysts around the age of 20, and basal cell carcinomas (BCCs) especially in middle-aged patients. The diagnosis of GS is based on clinical, radiological, and genetic elements. The criteria reported by Kimonis et al. [2] are the most used. This method includes six major criteria: basal cell carcinoma, palmar plantar small depression, jaw bone cyst, rib abnormalities, calcified falx cerebri, and family history of the disease within the first degree; and six minor criteria: macrocephaly, ovarian fibromas, congenital malformation, skeletal abnormalities, X-ray abnormalities, and medulloblastomas. Follow these criteria, we can make a diagnosis when the patient presents two major criteria, or one major and two minor criteria [2]. The confirm of the diagnosis is related to gene mutation analysis. So genetic counseling is mandatory after genetic diagnosis.

307 A CARDIAC MASS IN A PATIENT WITH GORLIN-GOLTZ SYNDROME: INCIDENTAL DIAGNOSIS OR SOMETHING TO LOOK FOR?

Abstract Aims Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant, multisystem, tumor-predisposing disorder. The primary manifestation of NBCCS is the development of multiple basal cell carcinomas (BCCs) but is also associated with a variety of other benign and malignant tumors. Cardiac fibromas are increased in frequency in patients with NBCCS, developing in approximately 3 percent of affected individuals. They typically present in infancy. They are benign growths, and almost all develop within the ventricular myocardium. Although usually asymptomatic, they can result in impaired left ventricular function and conduction defects, necessitating resection. Methods and results we presented a case of a 59-years-old woman with a diagnosis of Gorlin-Goltz syndrome and no history of cardiovascular diseases who underwent a right knee arthroplasty in our hospital. After the surgery the patient was admitted to rehabilitation department. Electrocardiogram that showed sinusal rhythm with inverted T waves in lateral leads and a transthoracic echocardiography examination were performed. Echocardiography showed a large mass within the basal and middle segments of left ventricle lateral wall. Left ventricular ejection fraction was preserved. Cardiac magnetic resonance (CMR) revealed an intramyocardial mass with well-defined borders and several calcifications, hypointense on T1-weighted and T2-weighted images and delayed-contrast hyper-enhancement with hypoenhancing central cores. Based on these imaging features, the mass was suggestive of cardiac fibroma with calcifications. The patients was asymptomatic. Afterwards, a total body CT was performed to exclude other tumours in other sites. This case was discussed with cardiac surgeons and since the patient was asymptomatic with no conduction abnormalities or heart failure signs, urgent surgical intervention was excluded. The patient was discharged with a 3 months follow-up. Conclusion our case highlights the importance of echocardiography evaluation before surgery in patients with genetic syndrome like Gorlin-Goltz syndrome. Last guidelines published in 2021 recommend that all patients with NBCCS should be screened with a cardiac ultrasound and if cardiac symptoms occur in a patient with NBCCS, a cardiac ultrasound should be repeated to exclude a late-onset cardiac tumour. Furthermore, CMR plays an important role in characterizing cardiac masses and determining the management.

Presentation and management of syndromic and non-syndromic patients with multiple odontogenic keratocysts

ObjectiveThis case series reports the clinical presentation and management of multiple odontogenic keratocysts (OKCs) in patients with Gorlin Goltz syndrome and in non-syndromic patients. Material and methodsEight patients presented with features of multiple odontogenic keratocyst at department of Oral and Maxillofacial Surgery. The diagnosis was confirmed following clinical, radiographic and histopathological examination. Initially the diagnosis of OKC was confirmed on an incisional biopsy. Major and minor criteria were followed for the diagnosis of Gorlin Goltz syndrome. Smaller cysts in all patients were enucleated and for larger cysts marsupialization was planned either alone or followed by enucleation. Patients were followed at 1 month, 3 months, 6 months and yearly interval to check for bone healing and recurrences. ResultsAssociation of Gorlin Goltz syndrome was identified in four patients all of whom were males with age range of 12–37 years. Among four patients that had non-syndromic OKCs, three were female and one was male with age range of 09–50 years; two patients had familial non-syndromic multiple OKCs. In syndromic patients, multiple OKCs, recognized manifestations of Gorlin Goltz syndrome were identified with variable frequency: calcification of falx cerebri and chest deformity (100%); macrocephaly with frontal bossing (100%); hypertelorism (75%); basal cell carcinoma (25%); pectus deformity with flame shaped hands and feet (25%) and syndactyly (50%). Palmar or plantar pits, cleft lip or palate, ovarian fibroma and medulloblastoma was not identified in any patient. In patients with non-syndromic multiple OKCs mandible was more commonly involved than maxilla. ConclusionPatients with multiple OKCs, should be evaluated thoroughly and basal cell carcinomatous lesions should be ruled out. Meticulous follow up is vital as Gorlin Goltz syndrome is associated with malignancies and OKCs may be the first manifestation of this syndrome. Given the fact that OKCs associated with this syndrome have higher rate of recurrence than the isolated OKCs, long term follow up is warranted.

Basal Cell Carcinoma, Odontogenic Cysts, Brain and Skeletal Abnormalities (Gorlin Goltz) Syndrome in a 46-Year-Old Woman

Objective: To present the case of a 46-year-old woman with basal cell carcinoma, odontogenic cysts, brain anomalies and skeletal abnormalities.
 Method: 
 Design: Case Report
 Setting: Tertiary National University Hospital
 Patient: One
 Results: A 46-year-old woman consulted for a non-healing, necrotic left orbital ulcer that started as a skin-colored, papilla-like lesion on the upper eyelid. There were also hyperpigmented lesions with ill-defined borders over both paranasal areas. Tissue biopsies revealed basal cell carcinoma. Radiologic imaging showed cystic lesions in the mandible, straightening of cervical vertebrae and calcifications of the falx cerebri, tentorium cerebelli, pineal gland and choroid plexus. Based on established major and minor clinical and radiologic criteria, we arrived at a diagnosis of Gorlin Goltz Syndrome or Nevoid Basal Cell Carcinoma Syndrome (NBCCS). She underwent wide excision of the left orbital mass with exenteration, excision of left and right paranasal masses, left total parotidectomy with facial nerve preservation, enucleation of mandibular cyst, and cervicofacial reconstruction with skin grafts of the left orbital area and ala.
 Conclusion: NBCCS is a rare autosomal dominant disorder with a high tendency for neoplasms and developmental anomalies. Diagnosis can easily be missed if the physician is unaware of its classic but bizarre presentation. Early recognition and prompt specialist referral is very important in order to prevent complications and provide better prognosis. Patients should be reminded of the importance of follow-up as other presentations of the syndrome may manifest later in life, and family genetic screening and counseling should be undertaken.
 Keywords: Gorlin Goltz Syndrome; Nevoid Basal Cell Carcinoma Syndrome; odontogenic keratocyst

Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up

Background: Nevoid basal cell carcinoma (NBCCS) or Gorlin-Goltz syndrome (GS) is a multidisciplinary problem, the early diagnosis of which allows secondary prophylaxis that follows an appropriate regimen to delay progression of the syndrome. Purpose: The aim of this study was to present a case of delayed diagnosis of GS in a young patient who received multidisciplinary treatment 5 years after onset. Case report: The patient presented for evaluation with painless swelling of the left maxilla. Histological examination confirmed the diagnosis of a keratocyst odontogenic tumor (KOT) that was enucleated. On presentation, the patient’s symptoms and clinical signs were not related to complications of GS, and the possibility of GS was initially rejected, as he did not have a family history of the syndrome. Four years after the first surgery to remove the lesion, the patient came to our clinic with a brown, pigmented lesion. Computed tomography revealed ectopic lamellar calcification of the falx cerebri, which was the conclusive factor for the diagnosis of GS. Conclusion: It is important that clinicians recognize the clinical signs of GS, which mainly manifests itself as multiple basal cell carcinomas in the skin.

Nevoid basal cell carcinoma: Case report

Nevoid basal cell carcinoma, known as Gorlin Goltz Syndrome, is a rare hereditary condition, characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. In this report, we discuss a case of a patient with Gorlin Goltz Syndrome, who was 16 years old when first admitted for an initial appointment. The patient was diagnosed, treated and followed up for 7 years to present day. This syndrome is associated with a broad spectrum of anomalies and neoplasms as basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. It affects multiple organ systems, which include skeletal, teeth, jaw, skin, eyes, reproductive organs, and neural system. All the features however, are rarely observed in a single patient. The following paper presents the significance of early diagnosis of Gorlin Goltz Syndrome and the importance of a multidisciplinary approach in providing proper treatment for the patient.

Multiple odontogenic keratocysts indicating Gorlin-Goltz syndrome

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome is inherited in an autosomal dominant way, although sporadic cases have been reported. This syndrome shows a high penetrance and variable expressivity and is a multisystemic process characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and plantar pits and calcification of the falx cerebri. Together with these major features a great number of processes considered as minor features have also been described, such as numerous skeletal, dermatology related and neurological anomalies. Due to the importance of oral maxillofacial manifestations of this syndrome it is fundamental to know its characteristics in order to make a diagnosis and initiate an early preventive treatment. This paper reports the case of a 20-year-old male patient with Gorlin-Goltz syndrome, emphasizing the clinical and radiographic manifestations. This case report highlights the importance of dental health professionals in the early diagnosis of Gorlin-Goltz syndrome and in a preventive multidisciplinary approach to provide a better prognosis for the patient.