Café au lait spot

Definition

noun, plural: café au lait spots

A pigmented birthmark that is light-brown in color, flat, and usually oval in shape


Supplement

Birthmarks are marks on the skin at birth or shortly afterwards. One of the two major types of birthmarks is the pigmented birthmark (the other, vascular birthmark). Pigmented birthmarks are those that are associated with a localized overgrowth of melanocytes. They include moles, café au lait spots, and Mongolian spots.

The name is based on its color (café au lait, meaning milk coffee). Café au lait spots are birthmarks that are light brown in color. They are flat and often oval in shape. They may be present at birth or they may form during early childhood. They may fade but they generally persist with age.

One or two spots on an individual are regarded as normal. However, in certain instances, multiple café au lait spots may indicate a genetic disorder. For instance, six or more café au lait spots with diameter greater than 5mm during childhood is one of the indicative signs of neurofibromatosis type I (NF-1). NF-1 is a genetic disorder caused by a mutation of a gene on chromosome 17 and resulting in developing tumors along the nervous system.


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