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Café au lait spot in Adult
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Café au lait spot in Adult

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Contributors: William M. Lin MD, Susan Burgin MD, Craig N. Burkhart MD, Dean Morrell MD, Nancy Esterly MD
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Synopsis

Café au lait macule (CALM) is a well-defined, evenly pigmented brown macule or patch. The term refers to the characteristic homogeneous color of "coffee with milk" that may be light to dark brown depending on the patient's normal skin pigmentation.

Onset is usually evident in early childhood as a solitary lesion, although they may be present at birth. A single lesion is present in 10%-20% of the US population, and 1% of healthy young adults have up to 3 CALMs. Lesions are more common in individuals of higher phototype (3% of Hispanic and 18% of African American newborns have a CALM). CALMs are located anywhere on the body, although they typically appear on the trunk or lower extremities and rarely on the face. They increase proportionally in size as a child grows and may vary in size (1 to >20 cm), but are usually 2-5 cm in adults and are asymptomatic.

Multiple CALMs should alert the clinician to the possibility of an underlying systemic disease. Many disorders are associated with multiple CALMs (as listed in the Differential Diagnosis section).

Codes

ICD10CM:
L81.3 – Café au lait spots

SNOMEDCT:
201281002 – Café au lait spot

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Congenital melanocytic nevus – Usually raised in comparison to CALMs and has some variation in pigmentation.
  • Pigmentary mosaicism / nevoid hypermelanosis – Often occurs in the same demographic as CALMs so can be difficult to differentiate but may have more jagged borders.
  • Nevus spilus – May be uniformly pigmented early on but ultimately has a speckled pigmentation pattern within the lesion.
  • Becker nevus – Usually develops in adolescence, becomes slightly raised, and may contain hair.
  • Post-inflammatory hyperpigmentation (PIH) – CALMs typically have more well-defined borders. PIH may be associated with a scar and typically fades with time.
  • Urticaria pigmentosa / mastocytoma – Positive Darier sign where stroking the lesion elicits urticaria (or even blistering) via mast cell degranulation.
  • Lentigines, ephelides – Typically smaller, more numerous, and seen in sun-exposed areas.
Many syndromes are associated with CALMs. Strongly associated syndromes include:
  • Neurofibromatosis – Neurofibromatosis type 1 is the most common syndrome associated with CALMs with ≥6 CALMs (≥1.5 cm in postpubertal and ≥0.5 cm in prepubertal individuals). CALMs may also be seen in neurofibromatosis type 2.
  • Multiple familial café au lait syndrome – autosomal dominant
  • Legius syndrome – SPRED1 mutation
  • McCune-Albright syndrome - The CALMs of McCune-Albright syndrome compared with neurofibromatosis are typically fewer in number, irregular in contour ("Coast of Maine" – jagged, versus "Coast of California" – more smooth), larger, darker, and tend to be near midline and follow Blaschko's lines. McCune-Albright syndrome signs include precocious puberty, other endocrinopathies, and polyostotic fibrous dysplasia.
  • Constitutional mismatch repair deficiency syndrome – mutations in MLH1, MSH2, MSH6, PMS2
  • Ring chromosome syndromes – intellectual disability, skeletal anomalies
  • LEOPARD / multiple lentigines syndromePTPN11 mutation
  • Cowden syndromePTEN mutation
  • Bannayan-Riley-Ruvalcaba syndromePTEN mutation
Syndromes that are weakly associated with CALMs include:

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Therapy

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References

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Last Updated: 10/01/2018
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Café au lait spot in Adult
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Café au lait spot : Brown color, Hyperpigmented macule, Hyperpigmented patch, Present at birth
Clinical image of Café au lait spot
A close-up of a well-demarcated, oval, light brown patch on the back.
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