The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multi...

A patient with multiple basal cell carcinoma syndrome, a symptom complex characteristized by nevoid basal cell carcinomas of the skin, jaw cysts, skeletal abnormalities, and hyporesponsiveness to parathormone is presented. In addition, the patient had a retroperitoneal lymphagiomyoma, a hamartomatous lesion, causing ureteral obstruction. The association of neuroectodermic syndromes and retroper...

We employed polymerase chain reaction and DNA sequencing analysis to characterize the PTCH gene in a Japanese nevoid basal cell carcinoma syndrome (NBCCS) patient suffering from meningioma, multiple basal cell carcinoma and epidermal cysts. Direct sequence analyses revealed a novel single base deletion at nucleotide 2613 in exon 16 (2613delC) in one PTCH allele, resulting in the frame shift and...

Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder and is characterized by a great variety of signs and symptoms. The most important are a characteristic facies, the occurrence of basal cell carcinomas and odontogenic keratocysts. In view of the neoplastic skin change, constant review of the patients is indicated. Any jaw film revealing two or more dentigerous or follicular ...

The Nevoid Basal-Cell Carcinoma Syndrome (NBCC), or as it is also referred to, basal-cell nevus syndrome or Gorlin-Goltz syndrome, is characterized by multiple early-appearing basal cell carcinomas, keratocytosis of the mandible, and anomalies of the ocular, skeletal reproductive system. We describe four patients in the same family, all of them possessing a large number of skin tumors associate...

Odontogenic keratocysts (OKCs) are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBS). It is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of only multiple recurring OKC. Our patient presented with nine cysts with multiple recurrences over a period of 11 years without any other manifestation of the syndrome.

Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. We describe 6 cases of nevoid BCC syndrome evaluated in our department. Palmoplantar pittin...

Incidence of medulloblastoma is 1.5-2 cases per 100,000 population, with 350 new cases in the United States each year. Although the majority occur as sporadic cases, hereditary conditions have been associated with medulloblastoma, including (1) Gorlin syndrome (nevoid basal cell carcinoma syndrome), (2) blue rubber-bleb nevus syndrome, (3) Turcot syndrome (eg, glioma polyposis syndrome), and (4...