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Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare multisystem disease with an autosomal dominant inheritance, high penetrance, and variable expressivity [1, 2]. GGS shows a predisposition to neoplasms and other developmental abnormalities. The estimated prevalence varies from 1/57,000 to 1/256,000 among various studies, with a male-to-female ratio of 1:1 [2]. The first report of the syndrome was in 1894 by Jarisch and White in a patient with multiple basal cell carcinomas, scoliosis, and learning disability. Binkley and Johnson in 1951 and Howell and Caro in 1959 suggested a relationship between basal cell epitheliomas and developmental malformations. It was delineated only in 1960 by Robert James Gorlin and William Goltz [3, 4] who established the classical triad (multiple basocellular epitheliomas, keratocyst in jaw, and bifid ribs) that characterizes the diagnosis of this syndrome. It is also called as the fifth phakomatosis due to the presence of multiple cutaneous, skeletal, ophthalmic and neurological abnormalities. In addition to the characteristic diagnostic features, GGS patients may also have frontal and parietal bossing, mandibular prognathism, and cutaneous abnormalities such as multiple basal cell carcinomas and palmar and plantar keratosis. GGS can also include concomitant hypertelorism, mental retardation, strabismus, calcification of the falx cerebri and medulloblastomas [6]. The genetic locus for GGS is on 9q22.3-q31, as determined by linkage analysis, which also contains the loss of human patched gene (PTCH1 gene), a tumor suppressor gene; this gene likely forms the molecular basis of the syndrome [5,7]. This gene is significant for embryonic development and cell cycle. Interestingly, the syndrome exhibits abnormalities similar to those seen in people exposed for long periods to UV radiation. Several different mutations of the PTCH1 gene have been identified in patients with GGS and may be responsible for its variable expressivity [2,3].

Gorlin-Goltz Syndrome-Case Report and Review