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Nevoid basal cell carcinoma syndrome

R J Gorlin1

  • 1Department of Oral Pathology and Genetics, School of Dentistry, University of Minnesota, Minneapolis, USA.

Dermatologic Clinics
|January 1, 1995
PubMed
Summary

Nevoid basal cell carcinoma syndrome, an autosomal dominant disorder, causes multiple skin cancers, cysts, and developmental issues. A mutation in a tumor suppressor gene involved in embryonic development is the likely cause.

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Area of Science:

  • Genetics
  • Dermatology
  • Developmental Biology

Background:

  • Nevoid basal cell carcinoma syndrome (NBCC) presents with a wide spectrum of clinical features.
  • These include numerous basal cell carcinomas, epidermal cysts, jaw keratocysts, and skeletal abnormalities.

Purpose of the Study:

  • To summarize the key manifestations and underlying etiology of Nevoid basal cell carcinoma syndrome.
  • To highlight the genetic basis and developmental role of the affected tumor suppressor gene.

Main Methods:

  • Review of clinical and genetic literature on Nevoid basal cell carcinoma syndrome.
  • Analysis of the role of tumor suppressor genes in embryonic development and neoplasia.

Main Results:

  • NBCC syndrome is characterized by diverse neoplasms and hamartomas, including basal cell cancers and jaw keratocysts.
  • Autosomal dominant inheritance pattern is consistently observed.
  • A mutation in a critical tumor suppressor gene, essential for embryonic development, is implicated.

Conclusions:

  • The diverse manifestations of NBCC syndrome stem from a single genetic defect affecting a crucial developmental gene.
  • Understanding this genetic etiology is key for diagnosis and management of affected individuals.

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