Café au lait stains

Last Updated: 2023-07-07

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

ICD11: LC1Y

  • Neurofibromatosis 1
  • Pigmentation spots
  • Congenital melanocytic naevus
  • Postinflammatory hyperpigmentation
  • Nevus spilus

Milk coffee stains

  • Congenital, sharply demarcated, homogeneous, light brown spots
  • Clinical syndromes with café-au-lait spots:
    • Ataxia teleangiectatica
    • Bannayan-Riley-Ruvalcaba syndrome
    • Bloom syndrome (BLM, inactivated DNA helicase)
    • Cobb syndrome
    • Cowden syndrome
    • Fèvre-Languepin syndrome
    • LEOPARD syndrome
    • Legius syndrome (SPRED gene, Ras signalling pathway)
    • Multiple endocrine neoplasia (MEN)
    • McCune Albright syndrome (Gs protein gene, activates adenylate cyclase)
    • Neurofibromatosis types I (neurofibromin gene), II (merlin gene). VI
    • Noonan syndrome (PTPN11 gene)
    • Piebaldism
    • Silver-Russel syndrome (H19, IGF2 genes)
    • Tuberous sclerosis (TSC1 gene)
    • Turner syndrome
    • Watson syndrome (neurofibromin)

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

Sharply but irregularly circumscribed, up to palm-sized, homogeneous, oval, light-brown, milk-coffee-coloured macules.

Avoid common mistakes:

  • If there are ≥ 6 café au lait spots, peripheral neurofibromatosis type I must be excluded
  • Caution - does not count as a nevus cell naevus

Basal hyperpigmentation, proliferation of melanocytes in neurofibromatosis type 1 and LEOPARD syndrome, but no proliferation of melanocytes in sporadic café-au-lait macules. Occasionally giant melanosomes (electron microscopy)

Growth in size during childhood.

  • No regression
  • Good skin lesion
  • 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.