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Related Experiment Videos

Nevoid basal cell carcinoma syndrome.

Kannan S Karthiga1, B Sivapatha Sundharam, R Manikandan

  • 1Department of Oral Medicine & Radiology, Sree Mookambika Institute of Dental Sciences, Padanilam, Kulasekharam. drskkomdr@yahoo.co.in

Indian Journal of Dental Research : Official Publication of Indian Society for Dental Research
|August 12, 2006
PubMed
Summary

Nevoid Basal Cell Carcinoma Syndrome (NBCCS), also known as Gorlin-Goltz syndrome, is an autosomal dominant disorder. This report details a case of NBCCS, highlighting its diverse clinical manifestations.

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Area of Science:

  • Genetics
  • Dermatology
  • Oncology

Background:

  • Nevoid Basal Cell Carcinoma Syndrome (NBCCS), or Gorlin-Goltz syndrome, was first described in 1951 and further defined in 1960.
  • It is an autosomal dominant genetic disorder with high penetrance and variable expressivity.
  • NBCCS is associated with a spectrum of abnormalities affecting multiple organ systems.

Observation:

  • The syndrome presents with characteristic features including basal cell epithelioma, jaw cysts, and bifid ribs.
  • Clinical manifestations span cutaneous, dental, osseous, ophthalmic, neurologic, and sexual systems.
  • This report presents a specific case illustrating the syndrome's varied presentation.

Findings:

  • The case exemplifies the complex and multi-systemic nature of NBCCS.

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  • Illustrations provide visual evidence of the syndrome's phenotypic diversity.
  • The report reinforces the diagnostic criteria and clinical spectrum of Gorlin-Goltz syndrome.

    • Implications:

    • Understanding NBCCS is crucial for early diagnosis and management.
    • Genetic counseling is important for affected families due to its autosomal dominant inheritance.
    • Further research into the molecular mechanisms of NBCCS can inform therapeutic strategies.