Cafe Au Lait Spots Workup

Updated: May 20, 2018
  • Author: William D James, MD; Chief Editor: Dirk M Elston, MD  more...
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Workup

Laboratory Studies

The presence of multiple café au lait macules (CALMs) should prompt a search for features suggestive of an underlying genetic disorder. Early diagnosis and genetic testing/counseling are important because of the genetic transmission of the underlying systemic disorders, if one is present. Genetic testing is available for the diagnosis of neurofibromatosis type 1 (NF1)–associated CALMs.

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Histologic Findings

Hyperpigmentation of basilar keratinocytes is noted. Giant melanosomes may be present within keratinocytes.

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