Nevoid Basal Cell Carcinoma Syndrome (NBCCS)

• wikipedia entry

• Predisposition for basal cell carcinoma, particularly in non-sun-exposed areas
• Prevalence 1/100,000
• Diagnosis
  • The major criteria consist of the following:
  1. more than 2 BCCs or 1 BCC in a person younger than 20 years;
  2. odontogenic keratocysts of the jaw
  3. 3 or more palmar or plantar pits
  4. calcification of the falx cerebri
  5. bifid, fused, or splayed ribs
  6. first-degree relative with NBCCS.
  • The minor criteria include the following:
  1. macrocephaly
  2. congenital malformations, such as cleft lip or palate, frontal bossing, or hypertelorism
  3. other skeletal abnormalities, such as Sprengel deformity, pectus deformity, or syndactyly
  4. radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
  5. ovarian fibroma or medulloblastoma
• Mutation in PTCH1 gene
  • Protein acts as a receptor for sonic hedgehog, implicated in formation of embryonic structures
  • Actual function not completely clear (as of 6/2009)
• RT as treatment for their BCC may be contra-indicated