Gorlin syndrome: A case report

Abstract

Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

Gorlin-Goltz syndrome

“…They occur on the palms and soles as a result of partial or complete loss of dense keratin. They generally occur in the second decade and increase in number as age advances (1,6). Palmoplantar pits were not observed in our patient.…”

“…Its prevalence is approximately 1/50 000-150 000 though it varies by regional and ethnic distribution. The disease, which was reported in 1894 for the first time by Jarish and White, was subsequently labeled as Gorlin-Goltz syndrome because its signs and symptoms were collected by Gorlin and Goltz (1). The clinical findings that may be observed in this syndrome include odontogenic keratocysts in the jaw, which generally develop in the first 30 years of life, basal cell carcinomas (BCC) from early childhood, palmar and plantar pits, falx cerebri calcification, frontal bossing, macrocephaly, broad nasal bridge, mild mandibular prognatism, vertebral anomalies, cleft palate, cleft lip, highly arched palate, eye anomalies, and tumors including medullablastoma and fibromas in the ovaries and heart (2).…”

“…The clinical findings that may be observed in this syndrome include odontogenic keratocysts in the jaw, which generally develop in the first 30 years of life, basal cell carcinomas (BCC) from early childhood, palmar and plantar pits, falx cerebri calcification, frontal bossing, macrocephaly, broad nasal bridge, mild mandibular prognatism, vertebral anomalies, cleft palate, cleft lip, highly arched palate, eye anomalies, and tumors including medullablastoma and fibromas in the ovaries and heart (2). In this disease, which shows high penetrance and variable expressivity, the "protein patched homolog" (PTCH) gene mutation is held responsible for the etiology (1). In one third of subjects, the disease occurs as de novo mutations.…”

Non-Syndromic Multiple Odontogenic Keratocysts: A Case Report and Comparison with Syndromic Multiple Odontogenic Keratocysts

“…The more relevant are the following: cardiac or ovarian fibroma, macroencephaly, bifid ribs, kyphoscoliosis, cleft palate, medulloblastoma, alterations in the sella turcica, mandibular prognathia, lateral displacement of the inner canthus, frontal and biparietal bossing, imperfect segmentation of the cervical vertebrae, meningiomas, fibrosarcoma, rhabdomyosarcoma, short fourth metacarpal, ocular hypertelorism, congenital blindness, high arched eyebrows and palate, narrow sloping shoulders, immobile thumbs, low pitch voice in women, renal anomalies, and hypogonadism in men. In certain occasions, a tall height and even similar characteristics to acromegaly have been associated with the syndrome [9][10][11][12]. Evans et al [13] first established major and minor criteria for the diagnosis of the syndrome and later were modified by Kimonis et al [14].…”

Radiological Findings of Gorlin Syndrome-A Case Report

“…It is a rare condition with a prevalence of 1 in 50,000 to 150000 with regional variation. 2 The male: female ratio is 1:1. It is difficult to diagnose this syndrome in childhood.…”