Basal Cell Nevus Syndrome

Aka: Basal Cell Nevus Syndrome, Gorlin's Syndrome

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II. Epidemiology

  1. Prevalence: 1 per 60,000
  2. Autosomal Dominant inheritance
  3. Gene localized to Chromosome 9q22.1-q31

III. Signs: Major features

  1. Multiple Nevoid Basal Cell Cancers
  2. Odontogenic keratocysts (jaw cysts)
    1. First sign of syndrome (occurs in early childhood)
    2. Cysts lined with keratinized epithelium
    3. Originate in dental lamina
    4. Locally erode to teeth if not completely excised
  3. Calcified falx cerebri
  4. Pitting of plantar or palmar surface
  5. Congenital skeletal abnormalities
    1. Hypertelorism
    2. High Scapulae (Sprengel's Deformity)
    3. Frontal bossing (may also involve parietal area)
    4. Synostosis
    5. Bifid ribs

IV. Associated conditions

  1. Cleft Lip and Palate
  2. Neoplasms
    1. Medulloblastoma
    2. Meningioma
    3. Myocardial fibroma
    4. Lyomesenteric cyst
    5. Ovarian fibroma
    6. Rhabdomyoma
  3. Eye disorders
    1. Coloboma
    2. Cataracts
    3. Glaucoma

V. Radiology

  1. Skull XRay: Calcified falx cerebri
  2. Chest XRay: Rib asymmetry or bifid ribs
  3. Panoramic films (Panorex): Dental cysts
    1. Obtain films annually
  4. Pelvic Ultrasound: Ovarian Cysts or fibromas
  5. Brain MRI: Meningiomas or Medulloblastoma

VI. Prevention: Modifiable risk factor reduction

  1. See Sun Exposure (lists general preventive measures)
  2. See Sunscreen

VII. References

  1. Bitar (2002) Am Fam Physician 65(12):2501-4 [PubMed]
  2. Stulberg (2004) Am Fam Physician 70:1481-8 [PubMed]

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