What is Gorlin syndrome || Causes and treatment || WE CARE

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07/06/23

What is gorlin syndrome || Gorlin syndrome, symptoms, causes and treatment.

Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare genetic disorder that predisposes affected individuals to the development of various tumors, particularly basal cell carcinomas (BCCs) and jaw cysts. Here's an overview of the syndrome's symptoms, causes, and treatment options:

Symptoms:

Multiple basal cell carcinomas (BCCs)
Jaw cysts and other bone abnormalities
Skin pits on the palms of the hands and soles of the feet
Small skin tumors on the face, neck, and trunk
Abnormal development of the eyes, including cataracts, glaucoma, and increased pressure within the eyes
Neurological issues, such as seizures, developmental delay, and intellectual disability
Abnormal curvature of the spine (scoliosis)
Ovarian fibromas (benign tumors of the ovaries) in women
Causes:
Gorlin syndrome is caused by a mutation in the PTCH1 gene, which is involved in regulating cell growth and division. This mutation leads to an increased risk of uncontrolled cell growth and the development of tumors.

Treatment:
There is no cure for Gorlin syndrome, but the symptoms can be managed. Treatment options may include:

Surgery to remove tumors
Radiation therapy to shrink tumors
Medications to slow the growth of tumors
Regular skin exams and monitoring of the eyes and other affected areas
Genetic counseling for affected individuals and their families
In addition, individuals with Gorlin syndrome are advised to avoid excessive exposure to sunlight and to protect their skin from UV radiation, which can increase the risk of developing skin cancer.

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Nevoid basal cell carcinoma syndrome (NBCCS)