Gorlin goltz syndrome

Gorlin goltz syndrome

Overview

Gorlin syndrome — also called basal cell nevus syndrome, nevoid basal cell carcinoma syndrome (NBCCS) and Gorlin-Goltz syndrome — is a rare genetic disorder that increases your risk of developing cancerous and benign (noncancerous) tumors. With this condition, a harmful change (mutation) in one of your genes makes you especially likely to develop basal cell carcinoma. This is the most common type of skin cancer.

There’s no cure for Gorlin syndrome. But with careful monitoring to diagnose and treat cancer in the early stages, a person living with this condition can live as long as someone without it. Gorlin syndrome doesn’t have to impact your lifespan or your quality of life.

Symptoms

Signs of Gorlin syndrome vary. The most common ones include:

Several basal cell carcinomas. Skin cancer usually appears in sun-exposed areas (like your face or neck). With nevoid basal cell carcinoma syndrome, it usually occurs during adolescence or early adulthood.

Odontogenic keratocysts. A type of benign cyst in your jawbone, these painless growths are commonly diagnosed in children and young adults with NBCCS.

Pits or small indentations in the soles of your feet or palms of your hands. The pitting most commonly appears in your 20s and is permanent.

Changes to your skeleton. There may be differences in the way your rib and spine bones are made.

Less commonly, signs and symptoms of Gorlin syndrome include:

Brain tumors, including medulloblastoma (cancerous) and meningioma (usually benign)

Fibromas in your heart or ovaries, which are noncancerous (and typically harmless) tumors

Eye problems, including crossed eyes (strabismus), rapid eye movements (nystagmus) and cataracts

Severe bone changes, like an incompletely formed spine (spina bifida)

Atypical facial features, like wideset eyes (hypertelorism), a congenital anomaly causing a separation in your upper lip and roof of your mouth (cleft lip/palate) and tiny, white bumps on your face (milia)

An enlarged head (macrocephaly)

Intellectual disabilities

Seizures

Causes

Nevoid basal cell carcinoma syndrome occurs because of a mutation in one of three genes that are supposed to stop tumors from forming — PTCH1 (most common), PTCH2 or SUFU. They’re called tumor suppressor genes. Certain cells grow abnormally if these genes aren’t working as they should. This is what causes symptoms like tumor growth. Most people inherit the mutation from a biological parent. But in some cases, people develop a mutation that arises spontaneously before birth.

People who inherit the mutation for NBCCS do so in an autosomal dominant pattern. This means you inherit one normal copy of a gene from one parent and one mutated gene from the other parent. You only need one copy of the PTCH or SUFU gene mutations to have Gorlin syndrome.

Scientists propose that people with Gorlin syndrome don’t develop cancer unless the normal copy of tumor suppressor gene also changes. For example, sun damage can cause a mutation in the normal gene. When this happens, neither gene works properly to prevent tumors from forming. This can lead to skin cancer. With NBCCS, damage to other cells in your body that already have one copy of the mutation can lead to other cancers.

Diagnosis

To diagnose Gorlin syndrome, your healthcare provider will check for signs of the condition. This may include:

A physical exam to look for skin cancer

Imaging tests to check for jaw cysts, fibromas or musculoskeletal issues

A biopsy to test tissue samples for cancer cells

A genetic test to see if you have a mutation associated with NBCCS

Treatment

While there isn’t a treatment for Gorlin syndrome itself, you may need treatment if you develop cancer or other growths that cause issues. For example, you may need surgery to remove skin cancer or a jaw cyst. You may need other cancer treatments, like topical creams or photodynamic therapy, to destroy cancer cells.

Because of your increased cancer risk, your healthcare provider may recommend applying strong/complete sunblock and wearing long sleeves and hats when you’re in the sun. Also, your providers will only do X-rays sparingly. Generally speaking, cancer specialists (oncologists) avoid radiation therapy altogether as a cancer treatment if you have Gorlin syndrome. The radiation can increase your cancer risk

Type of Doctor Department : A dermatologist , A dentist or oral and maxillofacial surgeon