Dear Doctor Column, December 24, 2001

QUESTION:

My son has a birthmark that was diagnosed as a café-au-lait spot. A sitter told me that these birthmarks were sometimes associated with tumors. Is this true?

ANSWER:

Café-au-lait spots are sharply demarcated, flat skin lesions that resemble the color of "coffee with cream" - the English translation for the French phrase café-au-lait. The hues of the lesions actually vary from person to person. Generally, they are tan or light brown in white children and may be dark brown in black children. Cafe-au-lait spots vary tremendously in size and can be quite large.

The presence of up to three or four cafe-au-lait spots are common in normal children; approximately 10 percent of people have these skin discolorations without any evidence of underlying disease or any increased risk for disease. These spots may be present at birth or appear during childhood.

Six or more or these spots that range from about one-fourth inch to several inches in diameter can signal the presence of an inherited condition called neurofibromatosis type 1 or von Recklinghausen disease, named for the physician who first described the disorder in 1882. In this condition, which affects about 1 of every 4,000 people, the café-au-lait spots generally are present at birth or appear before two years of age and increase in size, number and pigmentation, especially during the first few years of life.

The other distinctive feature of neurofibromatosis is the presence of noncancerous tumors, called neurofibromas, that grow along the nerves. These appear as rubbery lumps in or under the skin and can occur in other parts of the body, as well. These benign tumors most often develop during puberty, but can appear earlier.

Additional signs of neurofibromatosis can include freckling in the armpits and groin that is often present at birth, a growth on the nerve to the eyes called optic glioma that can affect vision, pigmented bumps on the iris (the colored portion of the eyes) that usually appear during puberty, skeletal abnormalities such as bowing of the legs and curvature of the spine, and a history of a close relative who has the condition. About 50 percent of people with neurofibromatosis have learning disabilities.

The café-au-lait spots do not cause any problems in and of themselves. Depending on their location, neurofibromas can press on critical structures, including blood vessels or organs and cause pain and other problems. They also are a cosmetic concern for some people.

Neurofibromatosis ranges from a very mild condition with only a few café-au-lait spots and neurofibromas to a more serious condition with complications. For more information about neurofibromatosis, contact the National Neurofibromatosis Foundation (800-323-7938).

In conclusion, if your son has only one café-au-lait spot, this is unlikely to be a problem or a sign of other diseases. You should, of course, discuss this matter with your son's doctor.