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