Neurology Book

Neurocutaneous

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Cafe-Au-Lait Macule

Aka: Cafe-Au-Lait Macule, Cafe-Au-Lait Spot, Cafe Au Lait
  1. Pathophysiology
    1. Congenital or develops in early childhood
    2. Hyperpigmentation from increased Melanin deposition
  2. Epidemiology
    1. Often present at birth
    2. Isolated lesions are common (present in up to 10-30% of the population)
  3. Symptoms
    1. Asymptomatic
  4. Signs
    1. "Coffee with milk" (tan to brown) colored flat Macule
    2. Usually located on trunk
    3. Size varies from <4 cm in infants to 20-30 cm in adults
  5. Red Flags: Criteria to consider associated congenital conditions below
    1. Six or more lesions that meet size criteria
    2. Size criteria
      1. Prepubertal: Lesions 5 mm or larger
      2. Postpubertal: Lesions 15 mm or larger
  6. Associated Conditions (if >6 lesions)
    1. Neurofibromatosis
    2. Tuberous Sclerosis
    3. Albright Syndrome
    4. Fanconi Anemia
  7. Management
    1. None needed
    2. Consider treatment only for cosmetic reasons
      1. Laser therapy
      2. Surgical excision
  8. References
    1. Plensdorf (2017) Am Fam Physician 96(12): 797-804 [PubMed]
    2. Plensdorf (2009) Am Fam Physician 79(2): 109-16 [PubMed]

Cafe-au-Lait Spots (C0221263)

Definition (NCI) A light brown, sharply demarcated skin patch. It is a manifestation of neurofibromatosis type 1 and McCune-Albright syndrome.
Definition (MSH) Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Concepts Finding (T033)
MSH D019080
ICD10 L81.3
SnomedCT 201281002, 156433001, 14030008
English Cafe au Lait Spots, Cafe-au-Lait Spot, Cafe-au-Lait Spots, Spot, Cafe-au-Lait, Spots, Cafe-au-Lait, Cafe-au-lait spot, Café au lait spots, Cafe-au-lait spots, Café au lait spot (disorder), Café au lait spot, cafe-au-lait spot, cafe-au-lait spot (physical finding), café au lait spots, Cafe-au-Lait Spots [Disease/Finding], au cafe lait spots, cafe au lait spot, cafe au lait spots, cafe-au-lait spots, Cafe au lait spots, Cafe au lait spot, Cafe-au-lait spots (disorder), Café au lait spots (disorder), café au lait; spot, spot; café au lait, Cafe Au Lait Patch, Cafe Au Lait Spot
Italian Macchie caffellate, Macchie color caffellatte
Japanese カフェ・オ・レ斑, ｶﾌｪｵﾚﾊﾝ
Swedish Cafe-au-lait-fläckar
Czech skvrny bílé kávy, skvrny cafe-au-lait, Skvrny barvy bílé kávy
Finnish Maitokahviläiskät
Russian PIGMENTNYE PIATNA TSVETA KOFE S MOLOKOM, ПИГМЕНТНЫЕ ПЯТНА ЦВЕТА КОФЕ С МОЛОКОМ
German Cafe-au-lait-Flecken, Café-au-lait Flecken, Café-au-lait-Flecken
Korean 밀크커피색 반점
Spanish mancha de color café con leche (trastorno), mancha de color café con leche, manchas de color café con leche, manchas de color café con leche (trastorno), manchas café con leche, manchas café con leche (trastorno), Manchas en café con leche, Manchas Café con Leche
Polish Plamy kawa z mlekiem
Hungarian Café au lait foltok
Norwegian Café au lait-flekker
Portuguese Manchas Café com Leite, Manchas café com leite
Dutch café au lait; vlek, vlek; café au lait, Caf au lait-vlekkeno, café au lait vlekken, Café-au-lait-vlek, Café-au-lait-vlekken, Vlek, café-au-lait-, Vlekken, café-au-lait-
French Taches café au lait, Taches café-au-lait
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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