Café au lait stains

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.