Nevoid basal cell carcinoma syndrome
The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) (also known as Basal Cell Nevus Syndrome, Multiple Basal Cell Carcinoma Syndrome, Gorlin syndrome, or Gorlin-Goltz syndrome) is an inherited group of multiple defects involving the
skin,
nervous system,
eyes,
endocrine system, and
bones.First described in 1960, NBCCS is an
autosomal dominant condition that can cause unusual facial appearances and a predisposition for
skin cancer. The prevalence is reported to be 1 case per 56,000-164,000 population. Recent work in
molecular genetics has shown NBCCS to be caused by mutations in the PTCH (patched) gene found on
chromosome arm
9q. If a child inherits the defective gene from either parent, he or she will have the disorder.
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Basal Cell Nevus Syndrome
basal cell nevus syndrome
An inherited condition that causes unusual facial features and disorders of the skin, bone, nervous system, eyes, and endocrine glands. People with this syndrome have an increased chance of developing basal cell carcinoma. Also called Gorlin syndrome.