Gorlin syndrome is also known as Gorlin-Goltz syndrome, Gorlin's syndrome, nevoid basal cell carcinoma syndrome, and basal cell naevus syndrome. The so-called basal cell naevi are actually tiny basal cell carcinomas.
Gorlin's syndrome is a rare inherited condition characterised by:
- Multiple and early onset basal cell carcinomas
- Other tumours including melanoma, medulloblastoma, meningioma, breast carcinoma, non-Hodgkin's lymphoma, and ovarian fibroma
Developmental abnormalities in affected individuals may include:
- Odontogenic cysts in the jaw
- Broad forehead
- Pits on palms and soles
- Rib anomalies
- Calcified falx cerebri (noted on skull X-ray)
Gorlin's syndrome is due to an abnormal PTCH (patched) gene on chromosome 9q22.3-q31. This gene normally functions as a tumour suppressor so when it is not working properly it may allow cancers to grow.
Gorlin's syndrome is an autosomal dominant condition meaning half of an affected person's children also have the syndrome. It affects one in every 50 to 100,000 people.
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