Abstract
Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant syndrome caused by mutations in the PTCH gene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.
Highlights
Gorlin syndrome is characterised by the presence of a variety of developmental anomalies and predisposition to a range of cancers
A long rank test was performed assuming similarity in the curves, and this produced a Pvalue of .625 with a Hazard ratio of 0.92 for females against males. These results show that male Gorlin patients do not have a higher cumulative incidence of basal cell carcinomas (BCCs) with age than female patients
The mutation detection rate is low at 61% in the Manchester series but this is similar to most other reports in Gorlin Syndrome [15,16,17,18]
Summary
Jones, Mohammed Imran Sajid, Andrew Shenton, and D. Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant syndrome caused by mutations in the PTCH gene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden
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