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Hypoplastic thumb in Gorlin's syndrome.

A Kansal1, L Brueton, A Lahiri

  • 1Diana, Princess of Wales Children's Hospital, Steelhouse Lane, Birmingham, UK. kansal_doon@yahoo.com

Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS
|March 14, 2007
PubMed
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Gorlin's syndrome (naevoid basal cell carcinoma syndrome) is linked to PTCH gene mutations. This report highlights bilateral thumb hypoplasia as a previously undocumented manifestation, emphasizing careful hand examination for diagnosis.

Area of Science:

  • Genetics
  • Dermatology
  • Oncology

Background:

  • Naevoid basal cell carcinoma syndrome (Gorlin's syndrome) is an autosomal dominant disorder.
  • It is caused by mutations in the Patched (PTCH) tumor suppressor gene on chromosome 9q22.
  • The syndrome predisposes individuals to basal cell carcinomas, ovarian fibromas, and medulloblastomas.

Observation:

  • Gorlin's syndrome typically presents with multiple jaw keratocysts, basal cell carcinomas, and characteristic facial features.
  • Skeletal anomalies like bifid ribs and wedge-shaped vertebrae are common.
  • This case report details a patient with bilateral thumb hypoplasia, a hand deformity not previously documented in Gorlin's syndrome.

Findings:

  • While other hand deformities like syndactyly and polydactyly have been reported, thumb hypoplasia is a novel finding.

Related Experiment Videos

  • The PTCH gene mutation is the underlying cause of Gorlin's syndrome.
  • Bilateral thumb hypoplasia may serve as an additional diagnostic marker.

    • Implications:

    • Careful examination of the thumbs is crucial for diagnosing Gorlin's syndrome, as subtle hypoplasia can be easily overlooked.
    • Early identification of hand anomalies can aid in diagnosis and management.
    • Specialist input is necessary for optimizing hand and thumb function in affected individuals.