Gorlin Psaume Syndrome, also known as Gorlin syndrome or nevoid basal cell carcinoma syndrome, is a rare autosomal dominant genetic disorder that primarily affects the skin, skeletal system, and various organs. This syndrome is caused by mutations in the PTCH1 gene, which is involved in regulating cell growth and division.
Individuals with Gorlin Psaume Syndrome typically develop numerous basal cell carcinomas, a type of skin cancer, at an early age. These skin lesions may appear as shiny, raised bumps or ulcers and can often occur on the face, neck, or other sun-exposed areas. Additionally, affected individuals may have pits or depressions on the palms and soles, and their nails may exhibit abnormalities.
Beyond skin manifestations, Gorlin Psaume Syndrome can present with various skeletal abnormalities, including bifid ribs (where ribs split into two branches), kyphoscoliosis (an abnormal curvature of the spine), and macrocephaly (larger-than-average head size). Furthermore, certain organs can be affected in this syndrome, such as the brain, heart, and reproductive system.
Individuals with Gorlin Psaume Syndrome are also prone to the development of benign tumors, particularly in the jawbone or other facial bones. Additionally, they may experience dental abnormalities, such as missing or extra teeth.
Due to the potential severity and complexity of Gorlin Psaume Syndrome, early diagnosis and management are essential. Treatment options mainly include surgical removal of skin lesions and jaw tumors, as well as regular screening and surveillance for potential complications. Genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and associated risks.
