An important indicator of neurofibromatosis and other congenital melanotic disorders, café-au-lait spots appear as flat, light brown, uniformly hyperpigmented macules or patches on the skin surface. They usually appear during the first 3 years of life but may develop at any age. Café-au-lait spots can be differentiated from freckles and other benign birthmarks by their larger size (a few millimeters to ⅝” [1.6 cm] or larger in diameter) and irregular shape. They usually have no significance; however, six or more café-au-lait spots may be associated with an underlying neurologic disorder.
Ask the patient or his parents when the café-au-lait spots first appeared. Also ask about a family history of these spots and of neurofibromatosis. Review the patient’s history for seizures, frequent fractures, or mental retardation.
Inspect the skin, noting the location and pattern of the spots. Look for distinctive skin lesions, such as axillary freckling, mottling, small spherical patches, and areas of depigmentation. Large lesions should be measured along the longest axis. A Wood’s light examination may help visualize lesions in pale-skinned individuals. Check for subcutaneous neurofibromas along major nerve branches, especially on the trunk. Also check for bony abnormalities, such as scoliosis or kyphosis.
In Albright’s syndrome, café-au-lait spots are smaller (about ⅜” [1 cm] in diameter) and more irregularly shaped than those in neurofibromatosis. They may stop abruptly at the midline and seem to follow a dermatomal distribution. Usually, fewer than six spots appear, unilaterally on the forehead, neck, and lower back. When they occur on the scalp, the hair overlying them may be more deeply pigmented. Associated signs include skeletal deformities, frequent fractures and, in females, sexual precocity.
The most common cause of café-au-lait spots, this disorder (also called von Recklinghausen’s disease) is characterized by six or more large, smooth-bordered spots up to ¼” (6.4 mm) in diameter in prepubertal children and more than ⅝” (15 mm) in diameter in postpubertal children. Associated signs include axillary and inguinal freckling; irregular, hyperpigmented, and mottled skin; and multiple skin-colored pedunculated nodules clustered along nerve sheaths. The nodules develop during childhood, growing larger than ¼”. They proliferate throughout life, affecting all body tissues and causing marked deformity. They grow to ⅝” or larger in adults. Mental impairment, seizures, hearing loss, exophthalmos, decreased visual acuity, and GI bleeding can eventually occur.
Mental retardation and seizures characteristically appear first, followed several years later by cutaneous facial lesions—multiple café-au-lait spots, spherical areas of rough skin, and areas of yellow-red or depigmented nevi.
Although café-au-lait spots require no treatment, you’ll need to provide emotional support for the patient and his family. Also, refer them for genetic counseling. Prepare the patient for diagnostic tests, such as tissue biopsy and radiographic studies.
Read excerpts from these other book chapters related to "cafe-au-lait" spots:
Copyright Details: Professional Guide to Signs & Symptoms (Fifth Edition), Copyright © 2008 Williams & Wilkins.
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Title: Professional Guide to Signs & Symptoms (Fifth Edition) Authors: Springhouse Publisher: Lippincott Williams & Wilkins Copyright: 2006 ISBN: 1-58255-510-9 
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