The syndrome was first reported in 1894 by Jarisch and White, and delineated by Gorlin and Goltz in 1960. It is a rare hereditary autosomal-dominant disorder with prevalence from 1/57,000 to 1/256,000 and variable phenotypic expressivity. The syndrome is due to a mutation of the tumor suppressor Patched gene located in the 9q22.1ââ?¬â??q31 chromosome and is characterized by multiple defects involving the skin, nervous system, eyes, endocrine system, and bones. There is a 60% rate of recurrence in patients with basal cell nevus syndrome. Diagnostic criteria were defined by Evans, and modified by Kimonis on 5 major and over 100 minor criteria. The syndrome is diagnosed with two major or one major and two minor criteria. Major criteria: multiple (>2) BCCs or one under 20 years; odontogenic keratocysts of the jaws proven by histopathology; palmar or plantar pits (3 or more); bilamellar calcification of the falx cerebri; bifid, fused or markedly splayed ribs. Minor criteria: macrocephaly; cleft lip or palate, frontal bossing; hypertelorism; sprengel deformity; marked pectus deformity; marked syndactyly of the digits; bridging of the sella turcica; vertebral anomalies; modeling defects of the hands and feet; ovarian fibroma; medulloblastoma.
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