Basal cell nevus syndrome: clinical and genetic diagnosis

Abstract

One case was diagnosed according to clinical criteria, while the other required genetic confirmation that revealed a germ line mutation in exon 17 (c.2868delC), not previously described in the databases, which was considered to be responsible for the disease.

Life expectancy in hereditary cancer predisposing diseases: an observational study

“…The difference in survival between males with GS (70.3 years) and males in the general population (78 years) was significant (p=0.0123); however, this difference was the least significant of all five diseases. The data in the current study correspond with previous findings that patients with GS generally have a good prognostic outcome with near normal life expectancy23; this, however, is the first time that life expectancy in GS has been formally assessed. No survival difference was reported between genders by disease (p=0.238 to 0.953).…”

“…Approximately 5% of affected people develop medulloblastoma during early childhood 22. Despite the increase in risk of malignancy, life expectancy is not thought to be greatly reduced in this disease 21 23…”

Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases

“…In 1960, Gorlin and Goltz reported the classical triad of multiple basal cell carcinoma, odontogenic keratocyst, and bifid ribs to establish the diagnosis of NBCCS. In addition to this triad, other characteristic features of NBCCS are palmar and plantar epidermal pits, calcification of the falx cerebri, spine and rib anomalies, macrocephaly, frontal bossing, hypertelorism, medulloblastoma, ovarian fibroma, cleft lip and/or palate, and several other developmental malformations [2-3]. This article reports case series of patients diagnosed with Gorlin-Goltz syndrome, thus, accentuating the need for meticulous clinical and radiographic examination of the affected patients.…”

Nevoid Basal Cell Carcinoma Syndrome: A Case Report

“…Nevoid basal cell carcinoma syndrome (BCNS) or Gorlin-Goltz syndrome is an autosomal dominant inherited disorder with high penetrance and variable expressivity (1). This syndrome was first reported by Jarish in 1894, who described a patient with multiple basal cell carcinomas, scoliosis and learning disability (2).…”

“…In 1960, Robert Gorlin and Robert Goltz determined the condition as a syndrome comprising a triad of multiple basal cell nevus, jaw keratocysts, and skeletal anomalies (7). Other terms of this disease include basal cell nevus syndrome, nevoid basal cell carcinoma syndrome (NBCCS), Herman-GrosfeldSpaas-Valk syndrome, multiple basal cell carcinoma syndrome and hereditary multiple cutaneomandibular polyoncosis (1).…”