Cafe au lait spots

Last Updated: 2020-08-13

Author(s): Anzengruber F., Navarini A.


Café au lait macules.

Congenital, sharply defined, homogeneous, light brown spots.

  • Clinical syndromes with café-au-lait spots: 
    • Albright's syndrome
    • Ataxia teleangiectatica
    • Bannayan-Riley-Ruvalcaba syndrome
    • Bloom syndrome
    • Cobb syndrome
    • Cowden's syndrome
    • Fèvre-Languepin syndrome
    • LEOPARD syndrome
    • Multiple endocrine neoplasia (MEN)
    • Neurofibromatosis of types I, II, VI
    • Noonan syndrome
    • Piebaldism
    • Tuberous Sclerosis
    • Turner syndrome

Prevalence: up to 20% (in light-skinned populations).
In about 3% of all newborns.

Sharp, but irregularly limited, homogenous, oval, light brown, milky coffee-coloured maculae, up to palm size.

Avoid common mistakes:

  • At ≥ 6 Café au-lait spots, peripheral type I neurofibromatosis must be ruled out

Basal hyperpigmentation, no multiplication of melanocytes, occasionally with giant melanosomes (electron microscopy).

  • No regression.
  • Benign skin change.
  • No degeneration known.

  1. Landau, M. and B.R. Krafchik, The diagnostic value of café-au-lait macules. Journal of the American Academy of Dermatology, 1999. 40(6): p. 877-890.
  2. Langenbach, A.P.M.N., Naevi Spili, Café-au-lait Spots and Melanocytic Naevi Aggregated Alongside Blaschko's Lines, with a Review of Segmental Melanocytic Lesions. Acta Dermato-Venereologica, 1998. 78(5): p. 378-380.
  3. McLean, D.I. and R.P. Gallagher, “Sunburn” freckles, café-au-lait macules, and other pigmented lesions of schoolchildren: The Vancouver Mole Study. Journal of the American Academy of Dermatology, 1995. 32(4): p. 565-570.
  4. Watson, G.H., Pulmonary stenosis, cafe-au-lait spots, and dull intelligence. Archives of Disease in Childhood, 1967. 42(223): p. 303-307.