Gorlin-Goltz Syndrome

Autosomal dominant inherited ectodermal disorder characterized by basal cell nevi on the torso and shoulders with a potential of malignant degeneration.

Basal Cell Nevus Syndrome; Gorlin Syndrome. [NB: Avoid confusion 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).]

Neurocutaneous syndrome first reported by the Hungarian dermatologist Moritz Kaposi in 1874 and 20 years later by Adolf Jarisch, an Austrian dermatologist. Further description by Robert James Gorlin, an American pathologist and geneticist, and the American dermatologist Robert William Goltz in 1960.

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.

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.

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.

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.

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 have been reported. Other skeletal abnormalities include bifid, splayed or fused ribs, kyphoscoliosis, and spina bifida. There is also a predisposition to other tumor formations (medulloblastomas, ovarian tumors, and, rarely, cardiac tumors).

Examine the airway for possible difficult intubation (facial asymmetry, dental defects, cleft lip/palate); endoscopic examination may be required to exclude verrucous lesions in the hypopharynx and supraglottic larynx obstructing visualization of the vocal cords. Evaluate pulmonary function tests (chest radiograph, arterial blood gas, forced vital capacity (FVC), peak expiratory flow rate (PEFR), (FEV1) forced exspiratory volume in the first second, FEV1/FRC (functional residual capacity). Elective surgery under general anesthesia is contraindicated when respiratory function is severely reduced (FVC <25%, PEFR <30%). A previous series of 36 patients with this syndrome reported three patients who developed severe bradycardia, hypotension, and bronchospasm with general anesthesia. The cause is unknown. Assess the effects of any associated hormone-secreting tumors.

General anesthesia with spontaneous respiration may be complicated by persistent partial upper airway obstruction secondary to supraglottic lesions. Tracheal intubation may be difficult as a result of these lesions and the presence of mandibular abnormalities. Scoliosis or kyphoscoliosis may compromise ventilation, and cardiac function (cor pulmonale) requiring postoperative mechanical ventilation.

Nitrous oxide should be avoided in the presence of lung cysts. The presence of cleft palate, maxillary and mandibular cysts, and dental dysplasia may result in intubation problems; muscle relaxants should therefore not be used until the airway has been secured.