Nevoid basal cell carcinoma syndrome

Alternate names

Gorlin-Goltz Syndrome; Basal Cell Nevus Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies; Gorlin syndrome

Definition

Nevoid basal cell carcinoma syndrome (NBCCS) leads to the growth of non-cancerous and cancerous tumors.

Epidemiology

It has been estimated that 1 in 57,000 to 1 in 164,000 people has nevoid basal cell carcinoma syndrome (NBCCS).The exact number of people with NBCCS is unknown.

Cause

• Nevoid basal cell carcinoma syndrome occurs when the PTCH1, SUFU, or PTCH2 gene is not working correctly.
• DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

• Nevoid basal cell carcinoma syndrome (NBCCS) is inherited in an autosomal dominant pattern.
• All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The alteration can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic alteration (de novo) and there is no history of this condition in the family.
• Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the alteration and the condition. Typically, children who inherit a dominant alteration will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene alteration for an autosomal dominant condition and show no signs or symptoms of the condition.

Signs and symptoms

Signs and symptoms may include:

• Abnormal deposits of calcium in the brain (cerebral calcification)
• Skeletal abnormalities (bifid ribs, wedge-shaped vertebrae)
• Skin pits on the hands and feet (palmar and plantar pits)
• Large head size (macrocephaly)
• Medulloblastoma (childhood brain tumor)
• Multiple jaw cysts (odontogenic keratocysts)
• Basal cell carcinoma
• Abnormal or excessive tissue growth
• Noncancerous tumors of the heart
• Noncancerous tumors of the ovary
• The first signs of NBCCS may be a large head and skeletal abnormalities.
• Skin pits and jaw tumors may develop in late childhood.
• By adulthood, basal cell cancers and other noncancerous tumors may appear.
• People with NBCCS are at increased risk to develop specific types of cancerous and noncancerous tumors.

Diagnosis

There may be a family history of this disorder and a past history of basal cell skin cancers.

Tests may reveal:

• Brain tumors
• Cysts in the jaw, which can lead to abnormal tooth development or jaw fractures
• Defects in the colored part (iris) or lens of the eye
• Head swelling due to fluid on the brain (hydrocephalus)
• Rib abnormalities

Tests that may be done include:

• Echocardiogram of the heart
• Genetic testing (in some patients)
• MRI of the brain
• Skin biopsy of tumors
• X-rays of the bones, teeth, and skull
• Ultrasound to check for ovarian tumors

Treatment

Treatment of nevoid basal cell carcinoma syndrome (NBCCS) is aimed at managing the symptoms and associated cancers. Basal cell cancer can be treated with chemotherapy, surgery, and other types of therapy. Specialists who may be involved in the care of someone with NBCCS include:

• Cardiologist
• Dermatologist
• Medical geneticist
• Ophthalmologist
• Oncologist

NIH genetic and rare disease info

• NIH info on Nevoid basal cell carcinoma syndrome

Nevoid basal cell carcinoma syndrome is a rare disease.

Nevoid basal cell carcinoma syndrome Resources
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