Café au lait spot
|Café au lait spot|
|A café au lait spot on a patient's left cheek|
Café au lait spots, or café au lait macules, are flat, hyperpigmented birthmarks. The name café au lait is French for "coffee with milk" and refers to their light-brown color. Café au lait lesions with rough borders (“coast of Maine”) may be seen in McCune-Albright syndrome. In contrast, Café au lait lesions of neurofibromatosis have smooth borders (“coast of California").
These spots are typically permanent and may grow or increase in number over time.
- Basal cell nevus syndrome
- Benign congenital skin lesion
- Bloom syndrome
- Chédiak–Higashi syndrome
- Congenital melanocytic naevus
- Fanconi anemia
- Gaucher disease
- Hunter syndrome
- Jaffe–Campanacci syndrome
- Legius syndrome
- Maffucci syndrome
- They can be caused by vitiligo in the rare McCune–Albright syndrome.
- Multiple mucosal neuroma syndrome
- Having six or more café au lait spots greater than 5 mm in diameter before puberty, or greater than 15 mm in diameter after puberty, is a diagnostic feature of neurofibromatosis type I (NF-1), but other features are required to diagnose NF-1. Familial multiple café au lait spots have been observed without an NF-1 diagnosis.
- Noonan syndrome
- Silver–Russell syndrome
- Tuberous sclerosis
- Watson syndrome
- Wiskott–Aldrich syndrome
Diagnosis is visual with measurement of spot size. The number of spots can have clinical significance for diagnosis of associated disorders such as Neurofibromatosis type I. Six or more spots of at least 5mm in diameter in pre-pubertal children and at least 15mm in post-pubertal individuals is one of the major diagnostic criteria for NF1.
Café au lait spots are usually present at birth, permanent, and may grow in size or increase in number over time.
The size and shape of the spots can vary in terms of description. In Neurofibromatosis Type 1, the spots tend to be described as ovoid, with smooth borders. In other disorders, the spots can be less ovoid, with jagged borders. In Neurofibromatosis Type 1, the spots tend to resemble the "coast of California," rather than the "coast of Maine," meaning the edges are smoother and more linear. 
Café au lait spots can be removed with lasers. Results are variable as the spots are often not completely removed or can come back after treatment. Often, a test spot is treated first to help predict the likelihood of treatment success.
Neurofibromatosis type I café au lait spot
- List of cutaneous conditions
- List of conditions associated with café au lait macules
- Plensdorf S, Martinez J (January 2009). "Common pigmentation disorders". American Family Physician. 79 (2): 109–16. PMID 19178061.
- coast of Maine spots - General Practice Notebook
- Jameson, J. Larry; Kasper, Dennis L.; Longo, Dan L.; Fauci, Anthony S.; Hauser, Stephen L.; Loscalzo, Joseph (eds.). Harrison's principles of internal medicine (20th ed.). New York. ISBN 978-1-259-64403-0. OCLC 1029074059.
- Listernick, Robert; Charrow, Joel (2012). "Chapter 141: The Neurofibromatoses". In Goldsmith, Lowell; Katz, Stephen I.; Gilchrest, Barbara A.; Paller, Amy S.; Leffell, David J.; Wolff, Klaus (eds.). Fitzpatrick's dermatology in general medicine (8th ed.). New York: McGraw-Hill Medical. ISBN 978-0-07-166904-7.
- Morelli, JG (2013). CURRENT Diagnosis & Treatment: Pediatrics, 22e. New York, NY: McGraw-Hill. pp. Chapter 15: Skin. ISBN 978-0-07-182734-8.
- "Cafe Au Lait Spots", by William D James, MD
- Cafe Au Lait Spots
- Whyte, M. P.; Podgornik, M. N.; Zerega, J.; Reinus, W. R. (2000). "Café-au-lait spots caused by vitiligo in McCune-Albright syndrome". J Bone Miner Res. 15 (12): 2521–2523. doi:10.1359/jbmr.2000.15.12.2521. PMID 11127218. S2CID 43896568.
- Arnsmeier, Sheryl L.; Riccardi, Vincent M.; Paller, Amy S. (1994). "Familial Multiple Cafe au lait Spots". Archives of Dermatology. 130 (11): 1425–1426. doi:10.1001/archderm.1994.01690110091015. PMID 7979446.
- "Neurofibromatosis 1". GeneReviews.
- Scheinfeld, Noah S.; et al. (2011). "Laser Treatment of Benign Pigmented Lesions". Medscape Reference.
- al.], editors, Lowell A. Goldsmith ... [et (2012). Fitzpatrick's dermatology in general medicine (8th ed.). New York: McGraw-Hill Medical. pp. Chapter 239. ISBN 978-0-07-166904-7.CS1 maint: extra text: authors list (link)
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