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Basal cell nevus syndrome: guidelines for early detection.

George J Bitar1, Charles K Herman, Mohammed I Dahman

  • 1Department of Plastic Surgery, Albert Einstein College of Medicine, Bronx, New York, USA. GBITAR007@aol.com

American Family Physician
|June 28, 2002
PubMed
Summary

Basal cell nevus syndrome, an inherited disorder, causes multiple skin cancers and other abnormalities. Early diagnosis involves family history, physical exams, and imaging tests.

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Area of Science:

  • Genetics and Hereditary Diseases
  • Dermatology
  • Oncology

Background:

  • Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder.
  • It exhibits complete penetrance and variable expressivity.
  • BCNS is characterized by a spectrum of clinical manifestations.

Observation:

  • Key features include multiple nevoid basal cell carcinomas, jaw cysts, and skeletal anomalies.
  • Additional findings encompass ectopic calcifications, palmar/plantar pits, and various benign tumors.
  • Ocular defects and cleft lip/palate can also be present.

Findings:

  • Diagnosis relies on a comprehensive approach.
  • This includes family history, thorough oral and skin examinations.
  • Radiographic imaging (chest, skull, jaw) and MRI/ultrasonography aid in identification.

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Implications:

  • Early and accurate diagnosis is crucial for managing BCNS.
  • Proactive screening and monitoring can mitigate complications.
  • Understanding the syndrome's features guides clinical management and genetic counseling.