Café au lait stains
Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
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)
- 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
- 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.
- 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.
- 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.
- Watson, G.H., Pulmonary stenosis, cafe-au-lait spots, and dull intelligence. Archives of Disease in Childhood, 1967. 42(223): p. 303-307.