Case Of Gorlin-Goltz Syndrome Research Articles

Clinical and Radiogr Clinical and Radiographic F aphic Features of Ne es of Nevoid Basal Cell oid Basal Cell Carcinoma Syndrome: A Case Report

Nevoid Basal Cell Carcinoma Syndrome, also called as Gorlin Gotz syndrome is an autosomal dominant disorder characterized by the presence of multiple odontogenic keratocysts (OKCs) of the jaw, basal cell carcinomas and skeletal anomalies. Presence of multiple OKCs is the first clinical manifestation in majority of the cases. Early diagnosis and treatment are of utmost importance in reducing the severity of this syndrome. We hereby report a rare case of Gorlin Goltz syndrome in a 28 years old female patient who presented with multiple cystic lesions in the jaws. Present case also highlights the clinical, radiographic and histopathologic features of this uncommon syndrome.

Gorlin-Goltz syndrome (GGS): A rare case report

Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant inherited disorder characterized by the presence of multiple keratocystic odontogenic tumors (KCOT) in the jaws, multiple basal cell nevi carcinomas, and skeletal abnormalities. Early diagnosis of Gorlin-Goltz syndrome is essential as it may progress to aggressive basal cell carcinomas and neoplasias. In this paper, a case of GGS in a 19 year old male is reported and the literature is reviewed.

A Novel PTCH1 Frameshift Mutation Leading to First Case of Gorlin-Goltz Syndrome with Bilateral Pneumothorax

Objective: Gorlin-Goltz syndrome is a rare autosomal dominant inherited syndrome, also known as “basal cell nevus syndrome’’. This rare disorder is caused by mutation in the patched tumor suppressor gene PTCH and located in chromosome 9q22.3q31, which functions as a component of the Hedgehog signaling pathway. It is characterized by multiple basal cell carcinomas, jaw keratocysts, falx cerebri calcification and skeletal anomalies. The syndrome was first described by Gorlin and Goltz in 1960, and has a wide clinical spectrum including ophthalmological, neurological, endocrine and genital pathologies, internal malignancies and mental retardation. Methods: A 22-year-old male patient presented with a left-side spontaneous pneumothorax. After tube thoracostomy, prolonged air leak developed, and computed tomography was performed because of bullous lung. A patient with Gorlin-Goltz syndrome who developed spontaneous pneumothorax in the contralateral lung during clinical follow-up and underwent surgery is presented. The treatment and follow-up of this case are discussed in the light of literature. Results: The NGS analysis results were compatible with the diagnosis of NBCCS (Gorlin-Goltz), and a novel heterozygous frameshift mutation c.1659delC(pS554Afs*11) (pSer554Alafs Ter11) in the PTCH1 gene causing a premature stop codon. The case was evaluated as pathogenic with high probability according to ACMG criteria. Conclusion: This case report; describes for the first time a patient with NBCCS or Gorlin-Goltz Syndrome with basal cell carcinoma caused by a heterozygous frameshift mutation in exon 10 of the PTCH1 gene and was considered highly likely pathogenic according to the ACMG criteria. Therefore, our case; it is important because it is the first presented frameschift mutation in the world, which belongs to Gorlin-Goltz Syndrome.

Gorlin Goltz syndrome: A case report

Not many cases have been reported in India, and hence we report here a rare case of Gorlin Goltz syndrome (GGS) especially in young patients without any skin lesions. A 21 year old male reported to our department, with swelling in the lower posterior region of the right side of jaw since last 2 years. Thorough extraoral and intraoral examinations along with orthopantomogram (OPG), CT scan (skull) and chest radiograph helped in proper diagnosis of the condition. No skin lesion in the form of basal cell nevus, palmar or plantar pits, or keratosis were present. All the cystic lesions of the jaws were enucleated surgically and chemical cauterization done by Carnoy's solution. No sign of recurrence observed still date. Our case highlights the importance of the awareness of this rare syndrome, especially in young patients without any skin lesions because early verification of the disease prevent recurrence and better survival rates from the existent disease.

Gorlin-goltz syndrome: a rare case.

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

Nevoid basal cell carcinoma syndrome

Binkley and Johnson first reported this syndrome in 1951. But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as Nevoid Basal Cell Carcinoma Syndrome (NBCCS). NBCCS is inherited as an autosomal dominant trait with high penetrance and variable expressivity. NBCCS is characterized by variety of cutaneous, dental, osseous, opthalmic, neurologic and sexual abnormalities. One such case of Gorlin-Goltz syndrome is reported here with good illustrations.