Café au lait spot
| Café au lait spot | |
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| A café au lait spot on a patient's left cheek. | |
| ICD-10 | L81.3 |
| ICD-9 | 709.09 |
| DiseasesDB | 16118 |
| eMedicine | ped/2754 |
| MeSH | D019080 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Café au lait spots or cafe-au-lait spots (CAL) are pigmented birthmarks.
Etymology
The name café au lait is French for "coffee with milk" and refers to their light-brown color in persons with light skin. It will appear as a darker lesion café noir in people with dark skin.
Pathophysiology
While café au lait spots are usually not associated with any medical problems, having many (three or more) such spots is linked with neurofibromatosis and the rare McCune-Albright syndrome.
Also, having six or more of such spots greater than 5 mm in diameter prepubertal or greater than 15 mm in diameter postpubertal children is a cardinal diagnostic feature of Neurofibromatosis type I.
Differential Diagnosis
Other syndromes that may include Cafe au lait spots:
- Fanconi anemia
- Tuberous sclerosis
- Russell-Silver syndrome (Silver-Russell dwarfism)
- Ataxia telangiectasia
- Bloom syndrome
- Basal cell nevus syndrome
- Gaucher disease
- Chédiak-Higashi syndrome
- Hunter syndrome
- Maffucci syndrome
- Multiple mucosal neuroma syndrome (Multiple endocrine neoplasia type 2)
Diagnosis
Physical Examination
Skin
![Cafe au lait spot[1]](/index.php/File:Cafe_au_lait_(NFT1_or_NFT2).jpg)
![Cafe au lait spot (with MR, it's McCune Albright)[2]](/index.php/File:Cafe_au_lait_(with_MR,_it%27s_McCune_Albright).jpg)
