Gorlin Syndrome: Definition & Symptoms

Gorlin syndrome, also called nevoid basal cell carcinoma syndrome or basal cell nervus syndrome, is a rare genetic disorder. It affects both men and women without racial predilection.

For individuals with gorlin syndrome, the risk for developing multiple basal cell carcinoma accounts for 90%.

Gorlin syndrome may be caused by the mutation of PTCH1 gene. PTCH1 is the gene responsible for preventing the tumor from proliferating rapidly.

Symptoms

Symptoms of gorlin syndrome vary from person to person. Gorlin syndrome can be divided into major and minor criteria which are essential in the diagnosis of the disease.

The major criteria include:

  • Basal cell carcinoma
  • Keratocystic odontogenic tumor
  • Palmar or plantar pits
  • Calcification of the dura mater

The minor criteria include:

  • Microcephalic
  • Congenital malformation
  • Eyes set wider
  • Skeletal deformities
  • Pectus
  • Syndactyly
  • Ovarian fibroma

Other symptoms include hyperpneumatization, spina bifida, and skin tags.

 

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