Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. In majority of the cases, the presence of multiple and recurrent jaw cysts especially during the first two decades of life is one of the first symptoms of this syndrome. We present here a case of 14-year-old female patient who reported with a chief complaint of facial swelling for 3 weeks. The radiographs revealed multiple cysts in maxilla and mandible. Incisional biopsy of the lesions was done and the histopathologic features were suggestive of odontogenic keratocyst. Further investigations revealed the presence of falx cerebri calcifications and multiple nevi on palms and feet. Genetic study was done to confirm the diagnosis of NBCCS, which showed mutations in PTCH gene. This case stresses the importance of genetic study in suspected cases of NBCCS especially in young patients of nonsyndromic parents.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10112701 | PMC |
| http://dx.doi.org/10.4103/jomfp.jomfp_463_20 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Gorlin-Goltz Syndrome with Jaw and Minimal Skin Manifestations - A Case Report.
Ann Maxillofac Surg
April 2025
Department of Oral and Maxillofacial Surgery, Bharat Ratna Atal Bihari Vajpayee Medical College, Pune, Maharashtra, India.
Rationale: Multiple odontogenic keratocysts (OKC) occurs as a component of nevoid basal cell carcinoma syndrome (NBCCS) with concomitant cutaneous, skeletal, ophthalmic and neurological abnormalities.
Patient Concerns: A 15-year-old male patient reported with chief complaint of swelling in his upper and lower jaws.
Diagnosis: Orthopantomogram was taken and it showed multiple radiolucent areas present in the maxilla and mandible.
Navigating Beyond a Cyst: The Intricate World of Gorlin Goltz Syndrome - A Case Report.
Ann Maxillofac Surg
March 2025
Department of Orthodontics and Dentofacial Orthopedics, Datta Meghe Institute of Higher Education and Research, Wardha, Maharashtra, India.
Rationale: The importance of a comprehensive and interdisciplinary approach in early diagnosis and managing patients with rare genetic disorders must be highlighted appropriately. This case report delves into the complex clinical presentation of a patient with Gorlin-Goltz Syndrome, emphasizing the multifaceted challenges encountered during diagnosis, treatment, and long-term management and involves a detailed exploration of the patient's clinical history, encompassing cutaneous manifestations, skeletal anomalies, and neurological findings radiological imaging also plays a pivotal role in guiding towards the diagnostic process and forming the basis for a multidisciplinary approach for management of the patient.
Patient Concerns: A previously treated case for pain in lower left tooth region, patient concerns for pain and pus discharge from same region.
Mosaicism for a variant in causing nevoid basal cell carcinoma syndrome.
BMJ Case Rep
July 2025
Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
This case report details the diagnostic process in a young man with mosaic nevoid basal cell carcinoma syndrome (NBCCS). In his mid-teens, he was first diagnosed with basal cell carcinoma (BCC). By late adolescence, he presented with mild NBCCS-like features alongside an identified odontogenic keratocyst.
View Article and Find Full Text PDFClinical Features and PTCH1 Expression in Gorlin-Goltz Syndrome: A Case Report.
Reports (MDPI)
March 2025
Department of Oral Pathology and Medicine, Postgraduate Division, School of Dentistry, National Autonomous University of Mexico, Mexico City 04510, Mexico.
Basal cell nevoid carcinoma syndrome, or Gorlin-Goltz Syndrome (GGS), is a genetic disease caused by germline mutations in genes involved in the Sonic HedgeHog (SHH) signaling pathway, mainly in the PTCH1 gene. PTCH1 is a receptor for SHH, and the activation of SHH signaling exerts a direct effect on the proliferation and maintenance of stem cells; alteration of its signaling could promote a favorable microenvironment for the maintenance of tumor viability. The main clinical manifestations of patients with GGS include multiple basal cell carcinomas, odontogenic keratocysts, calcification of the falx cerebri, palmoplantar fossae, hypertelorism, prognathism, fused or bifid ribs, and macrocephaly, which occur at different stages of life.
View Article and Find Full Text PDFComparison of Symptoms and Disease Progression in a Mother and Son with Gorlin-Goltz Syndrome: A Case Report.
J Clin Med
July 2025
Department of Cranio-Maxillofacial Surgery, Oral Surgery and Implantology, Medical University of Warsaw, 02-091 Warszawa, Poland.
: Gorlin-Goltz syndrome (GGS), also known as basal cell nevus syndrome or nevoid basal cell carcinoma syndrome, is a rare genetic disorder caused by mutations in the , , or genes, leading to an increased risk of neoplasms. Craniofacial anomalies are among the most common features of GGS. This paper aimed to highlight the similarities and differences in clinical presentation across different ages and to emphasize the importance of including all family members in the diagnostic process.
View Article and Find Full Text PDF