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This Article Full Text Full Text (PDF) Take the CME quiz: Vol. 22 No. 3, March 2001 Supplemental Material Author Disclosures Rapid Responses: Submit a response Alert me when this article is cited Alert me when Rapid Responses are posted Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Tekin, M. Articles by Riccardi, V. M. Search for Related Content PubMed PubMed Citation Articles by Tekin, M. Articles by Riccardi, V. M. Related Collections Fetus and Newborn Infant

Café au Lait Spots: The Pediatrician’s Perspective

Mustafa Tekin, MD^*
Joann N. Bodurtha, MD, MPH
Vincent M. Riccardi, MD

^* Clinical Genetics Fellow.

Associate Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology, Virginia Commonwealth University/Medical College of Virginia Hospitals, Richmond, VA.
President, The Neurofibromatosis Institute, La Crescenta, CA.

Objectives After completing this article, readers should be able to:

1. Define café au lait spots typical of neurofibromatosis type 1 (NF1) and describe their frequency and variability in the normal population.
   
2. List three or more genetic disorders other than NF1 that are associated with café au lait spots.
   
3. Summarize three or more clinical manifestations and molecular bases of NF1 and NF2.
   
4. List the diagnostic criteria for NF1.
   
5. Summarize clinical findings of genetic disorders other than NF1 associated with café au lait spots.
   

	Introduction and Epidemiology

 
Every pediatrician faces the challenge of deciding if a patient who has café au lait (CAL) spots has an underlying genetic condition. CAL spots typical of neurofibromatosis type 1 (NF1) are discrete, round or oval, uniformly hyperpigmented skin patches. Their color varies from light to dark brown, and the border may be smooth or irregular. They usually are smaller in newborns, enlarge as children get older, and are less prominent in adults. The histologic basis of CAL spots is increased melanin content, with the presence of giant melanosomes in both melanocytes and basal keratinocytes and no melanocytic proliferation. The giant melanosomes in CAL spots are not unique to NF1; they can be seen in unaffected skin of adults who have NF1 and occasionally in normal skin of healthy individuals. Therefore, the presence of giant melanosomes is not helpful for diagnosing NF1.

The frequency and number of CAL spots vary in the general population according to ethnic background and age. Sometimes otherwise healthy children who have red hair and often are of Irish or Welsh background have multiple areas of patchy hyperpigmentation. Similarly, multiple patchy areas of hyperpigmentation can occur in healthy children who have mixed ethnic backgrounds in which two parents have very different skin colors. CAL spots were noted in 0.3% of Caucasians and 18% of African-Americans . . . [Full Text of this Article]

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This article has been cited by other articles:

				S. Wainer A child with axillary freckling and cafe au lait spots Can. Med. Assoc. J., August 1, 2002; 167(3): 282 - 283. [Full Text] [PDF]

				H. Karabiber, S. Sasmaz, G. Turanh, and C. Yakinci Prevalence of Hypopigmented Maculae and Cafe-au-Lait Spots in Idiopathic Epileptic and Healthy Children J Child Neurol, January 1, 2002; 17(1): 57 - 59. [Abstract] [PDF]