What is Gorlin-Goltz syndrome?

What is Gorlin-Goltz syndrome?

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism.

Is Gorlin syndrome life threatening?

Patients with Gorlin-Goltz syndrome need particular multidisciplinary medical care. Knowledge of multiple and difficult to diagnose symptoms of the syndrome among professionals of various medical specialties is crucial. The consequences of the disease pose a threat to the health and life of patients.

Is Gorlin syndrome a disability?

If you or your dependent(s) are diagnosed with Gorlin Syndrome and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.

How is Gorlin Goltz syndrome diagnosed?

An exam of the patient’s skin for basal cell carcinomas, pitting on hands and feet, areas of skin discoloration, and small cysts (milia) around the eyes and nose and elsewhere. An exam of the face and head to identify any abnormalities of the face, skull, teeth and jaws.

How common is Gorlin syndrome?

Gorlin syndrome affects about 1 in 31,000 people, although the true figure may be higher as mild cases can go unrecognised. Between 70 and 80 out of every 100 people (between 70 – 80%) with Gorlin syndrome have someone else in their family with it and have inherited a genetic mutation from one of their parents.

What causes Gorlin syndrome?

Gorlin syndrome is caused by a mutation (change) in the PTCH1 gene. Also called basal cell nevus syndrome, BCNS, NBCCS, and nevoid basal cell carcinoma syndrome.

What causes Goltz syndrome?

Goltz Syndrome is a condition caused by mutations in the PORCN gene at Xp11. 23. This gene is part of the WNT pathway, as seen below. PORCN encodes the human homolog of the Drosophila melanogaster gene porcupine.

Is Goltz syndrome a disability?

Less commonly, there are developmental problems of the kidneys, abdominal wall defects (an opening in the abdominal wall exposing the intestines), and diaphragmatic hernias (an opening in the muscle that separates the abdominal and chest cavities). Some individuals with Goltz syndrome also have intellectual disability.

What is Gorlin and Goltz syndrome?

Nevoid Basal-Cell Carcinoma syndrome Q87.89 Gorlin and Goltz’s eponymous syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant disorder distinguished by multisystemic developmental abnormalities secondary to mutations in the patched-1 ( PTCH1) gene.

What is the prognosis of Gorlin-Goltz syndrome?

Life expectancy in Gorlin-Goltz syndrome is not significantly altered, but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered.

Which histologic findings are characteristic of basal cell carcinoma (BCNS) on the face?

BCNS patients may develop literally hundreds of BCCs over their lifetime. All typical clinical and histologic variants of BCC (eg, nodular, superficial, infiltrative) may occur in BCNS patients. In addition, BCCs may resemble milia on the face, nevoid papules, or pedunculated acrochordon-like lesions in BCNS patients.

What is the role of Vismodegib in the treatment of Gorlin-Goltz syndrome?

Literature of vismodegib being used in patients with Gorlin-Goltz syndrome seems promising with resolution of the keratocystic odontogenic tumors and increase in anti-tumor signaling. Vismodegib significantly reduced the rate of appearance of new surgically eligible BCCs among patients with Gorlin-Goltz syndrome.