This is a syndrome of skin cancers plus skeletal and facial changes. It is a well-known disorder among ophthalmologists because the lids may have tumors, and the facial changes lead to subtle changes in placement of the eyeballs. It was first reported in 1960 by Robert James Gorlin, an American oral pathologist and geneticist, and Robert William Goltz, an American dermatologist, and is sometimes referred to as the Gorlin-Goltz, or Gorlin syndrome. The acronyms BCNS or BCCNS are often used.
The most common eye finding in this disorder is basal-cell cancers of the eyelids which are unusual in their early onset, often by age 35 years. However, these also can occur on the neck, chest, back, arms as well as elsewhere on the face. They are frequently multiple and slow growing. They can be subtle which often leads to a delayed diagnosis. Benign cysts may be seen in the skin, especially the palms, in the jaw and other organs, and are sometimes found on the outer covering of the eye (conjunctiva). Pits are often seen in the palms and the soles. One or more ribs may appear forked and scoliosis (curvature of the spine) is common. The head may appear large with prominence of the frontal area, causing the eyes to be more widely spaced than normal, and the jaw is often prominent. Other bone abnormalities are common, including cysts of the jaw, mild skull deformities, and fusion of the vertebrae.
Patients are at risk for tumors of many kinds, both malignant and benign, but particularly to a brain tumor known as medulloblastoma. They are also especially sensitive to ionizing radiation such as X-rays and their use should be limited to essential diagnostic studies.
About 40% of new cases do not have a family history suggesting that new mutations are common. The remaining patients have a family tree consistent with autosomal dominant inheritance in which the gene mutation is passed in direct line from one generation to the next.
The diagnosis is often made by a dermatologist based on the palmar pits and the skin cancers. Although the bone deformities are not necessarily unique, the overall pattern of skeletal changes may lead the radiologist to suspect BCNS.
At risk individuals, such as those who have affected sibs or parents, should have dermatologic and systemic screenings early and often. The skin cancers especially are treatable when detected early but they must be followed rigorously as recurrences are common. Once the diagnosis is made, screenings should be done more often according to the physician’s advice. Lifelong monitoring is essential and if tumors are removed promptly the prognosis is excellent.