Skip to Main Content

At a glance

Autosomal dominant inherited ectodermal disorder characterized by basal cell nevi on the torso and shoulders with a potential of malignant degeneration. Gorlin-Goltz Syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Multiple cysts of variable size can be found in the maxilla, mandible and airway, and may make endotracheal intubation difficult.

Synonyms

Basal Cell Nevus Syndrome; Gorlin Syndrome.

N.B.: Do not confuse with Focal Dermal Hypoplasia Syndrome, which is also termed Goltz-Gorlin Syndrome [or Goltz Syndrome, Goltz-Peterson-Gorlin-Ravits Syndrome, Jessner-Cole Syndrome, or Liebermann-Cole Syndrome].

History

Neurocutaneous Syndrome first reported by the Hungarian dermatologist Moritz Kaposi in 1874 and 20 years later by Adolf Jarisch, an Austrian dermatologist. Subsequently, this medical condition was expanded by Robert James Gorlin, an American pathologist and geneticist, in association with Robert William Goltz, the American dermatologist, in 1960.

Incidence

Minimum estimated prevalence is 1:57,000 in the general population; 1:200 patients with basal cell carcinomas (one or more) had the syndrome, but the proportion is much higher (1:5) among those in whom a basal cell carcinoma develops before 19 years of age.

Genetic inheritance

Autosomal dominant inheritance with variable expressivity and high penetrance that appears to follow a similar course within single families. Evidence indicates the disorder results from mutations in PTCH, the human homologue of the Drosophila “patched” gene. Approximately 40% of cases represent a new mutation. Gene map locus is 9q22.3.

Pathophysiology

The causative gene probably functions as a tumor suppressor. This is based on the findings that deletion of the relevant region of chromosome 9q is found in many neoplasms occurring in the syndrome.

Diagnosis

Characterized by multiple basal cell nevi of the skin. The rib anomalies described below may be helpful for the early diagnosis. Molecular identification of the gene markers can be used in risk estimation and presymptomatic surveillance.

Clinical aspects

The main clinical characteristic is an enlarged head (macrocephaly) with facial abnormalities such as hypertelorism, keratocysts of the maxilla and mandible, dental dysplasia, skeletal abnormalities, calcified falx cerebri, and typical alterations at the sole and palm “pits” that are already obvious during infancy. The basal cell nevi occur in enormous numbers, most often increasing in numbers around the time of puberty. Basal cell carcinomas developed in approximately 85% of affected persons. Radiation treatment can result in fresh crops of aggressive basal cell carcinomas. Lip and/or palatal clefts are present in approximately 5% of cases, and mental retardation occurs at about the same frequency. Associated congenital lung cysts ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.