Gorlin-Goltz syndrome

Gorlin-Goltz Syndrome (GGS), also known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS), is a rare genetic disorder characterized by the development of multiple basal cell carcinomas, odontogenic keratocysts in the jaw, and a variety of other physical abnormalities. This syndrome is inherited in an autosomal dominant pattern and is caused by mutations in the PTCH1 gene located on chromosome 9q22.3. The PTCH1 gene plays a crucial role in the Hedgehog signaling pathway, which is important for cell division and the development of various tissues during embryogenesis.

Symptoms and Signs

Individuals with Gorlin-Goltz Syndrome may exhibit a wide range of clinical manifestations. The most common features include:

• Multiple basal cell carcinomas (BCCs) appearing in early adulthood or even childhood.
• Odontogenic keratocysts in the jaw, which are benign but can cause swelling and displacement of teeth.
• Palmar or plantar pits - small depressions on the palms of the hands and soles of the feet.
• Calcification of the falx cerebri, a structure within the brain.
• Bifid ribs, sprengel deformity, or other skeletal abnormalities.
• Macrocephaly (an abnormally large head) and a broad face with hypertelorism (widely spaced eyes).

Diagnosis

Diagnosis of Gorlin-Goltz Syndrome is based on clinical criteria and genetic testing. The presence of two major criteria or one major and two minor criteria is suggestive of GGS. Major criteria include:

• More than two BCCs or one BCC in a person under 20 years old.
• Odontogenic keratocysts of the jaw.
• Three or more palmar or plantar pits.
• Bilamellar calcification of the falx cerebri.
• Bifid, fused, or markedly splayed ribs.
• First-degree relative with GGS.

Minor criteria include:

• Macrocephaly.
• Congenital malformations such as cleft lip or palate, polydactyly, or eye anomalies.
• Other skeletal abnormalities.
• Radiologic abnormalities.
• Ovarian fibromas or medulloblastoma.

Genetic testing for mutations in the PTCH1 gene can confirm the diagnosis.

Treatment

There is no cure for Gorlin-Goltz Syndrome, and treatment focuses on managing symptoms and reducing the risk of developing basal cell carcinomas. Regular skin examinations and avoidance of excessive sun exposure are recommended to detect and treat BCCs early. Surgical removal is the most common treatment for BCCs and odontogenic keratocysts. In some cases, radiation therapy is avoided due to an increased risk of radiation-induced skin cancers. Genetic counseling is recommended for affected individuals and their families.

Prognosis

The prognosis for individuals with Gorlin-Goltz Syndrome varies depending on the number and severity of symptoms. Lifelong monitoring and treatment of BCCs and other manifestations can help manage the condition and improve quality of life.

Epidemiology

Gorlin-Goltz Syndrome is a rare condition, with an estimated prevalence of 1 in 57,000 to 1 in 256,000 people worldwide. It affects males and females equally.

See Also

• Basal cell carcinoma
• Odontogenic tumor
• Genetic disorders
• Autosomal dominant inheritance
• Hedgehog signaling pathway

Gorlin-Goltz syndrome Resources
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