Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Café au lait spots

Café au lait macules are are yellowish-lightbrown hyperpigmented birthmarks on the skin. The color resembles coffee with mitl, therefore its name.

Diseases

McCune-Albright syndrom
Café au lait spots are typical cutaneous findings in
Neurofibromatosis-Noonan syndrome
In this type of neurofibromatosis cafe-au-lait spots are also associated with physical deformations typical of Noonan syndrome.
Neurofibromatosis
Neurofibromatosis is probaly the most common disease involving cafe-au-lait spots.
Familial spinal neurofibromatosis
Typically neurofibromatosis is associated with cafe-au-lait spots. This however is not always true with the spinal form.
Watson syndrome
In Watson syndrome cafe-au-lait spots are associated with pulmonic stensis.
Update: June 3, 2017