Gorlin syndrome

الوصف

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumours.

In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Individuals with Gorlin syndrome typically begin to develop basal cell carcinomas during adolescence or early adulthood. These cancers occur most often on the face, chest, and back. The number of basal cell carcinomas that develop during a person's lifetime varies among affected individuals. Some people with Gorlin syndrome never develop any basal cell carcinomas, while others may develop thousands of these cancers. Individuals with lighter skin are more likely to develop basal cell carcinomas than are people with darker skin. The number of carcinomas may be reduced with ongoing treatment.

Most people with Gorlin syndrome also develop noncancerous (benign) tumours of the jaw, called keratocystic odontogenic tumours. These tumours usually first appear during adolescence, and new tumours form until about age 30. Keratocystic odontogenic tumours rarely develop later in adulthood. If untreated, these tumours may cause painful facial swelling and tooth displacement.

Individuals with Gorlin syndrome have a higher risk than the general population of developing other tumours. A small proportion of affected individuals develop a brain tumour called medulloblastoma during childhood. A type of benign tumour called a fibroma can occur in the heart or in a woman's ovaries. Heart (cardiac) fibromas often do not cause any symptoms, but they may obstruct blood flow or cause irregular heartbeats (arrhythmia). Ovarian fibromas are not thought to affect a woman's ability to have children (fertility).

Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull. These signs and symptoms are typically apparent from birth or become evident in early childhood.

Inheritance patterns

The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.

Related genes

• PTCH1

• SUFU

Other names

Basal cell nevus syndrome

BCNS

Gorlin-Goltz syndrome

NBCCS

Nevoid basal cell carcinoma syndrome