Radiation Oncology/Cancer Syndromes/NBCCS

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:
 * more than 2 BCCs or 1 BCC in a person younger than 20 years;
 * odontogenic keratocysts of the jaw
 * 3 or more palmar or plantar pits
 * calcification of the falx cerebri
 * bifid, fused, or splayed ribs
 * first-degree relative with NBCCS.
 * The minor criteria include the following:
 * macrocephaly
 * congenital malformations, such as cleft lip or palate, frontal bossing, or hypertelorism
 * other skeletal abnormalities, such as Sprengel deformity, pectus deformity, or syndactyly
 * radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
 * 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