''Café au lait'' spots, or ''café au lait'' macules, are flat, hyperpigmented birthmarks. The name ''

café au lait ''Café au lait'' (; ; French for "coffee with milk") is coffee with hot milk added. It differs from white coffee, which is coffee with cold milk or other whiteners added. In France, it is typically served as a breakfast drink, often as a la ...

'' is French for "coffee with milk" and refers to their light-brown color. They are caused by a collection of pigment-producing

melanocytes Melanocytes are melanin-producing neural crest-derived cells located in the bottom layer (the stratum basale) of the skin's epidermis, the middle layer of the eye (the uvea), the inner ear, vaginal epithelium, meninges, bones, and hea ...

in the epidermis of the skin. These spots are typically permanent and may grow or increase in number over time. Café au lait spots are often harmless but may be associated with syndromes such as neurofibromatosis type 1 and

McCune–Albright syndrome McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in '' GNAS'', which encodes the alpha-subunit of the Gs heterotrimeric G ...

. Café au lait lesions with rough borders ("coast of Maine") may be seen in McCune–Albright syndrome. In contrast, café au lait lesions of neurofibromatosis type 1 have smooth borders ("coast of California").

Cause

Café au lait spots can arise from diverse and unrelated causes: *

Ataxia–telangiectasia Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dil ...

* Basal cell nevus syndrome * Benign congenital skin lesion * Bloom syndrome *

Chédiak–Higashi syndrome Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic ...

* Congenital melanocytic naevus * Fanconi anemia * Fibrous dysplasia of bone * Gaucher disease *

Hunter syndrome Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder, inherited lysosomal storage disease in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. Hunte ...

* Jaffe–Campanacci syndrome * Legius syndrome * Maffucci syndrome *They can be caused by

vitiligo Vitiligo (, ) is a chronic autoimmune disorder that causes patches of skin to lose pigment or color. The cause of vitiligo is unknown, but it may be related to immune system changes, genetic factors, stress, or sun exposure, and susceptibili ...

in the rare

. * Multiple mucosal neuroma syndrome *Having six or more café au lait spots greater than 5 mm in diameter before puberty, or greater than 15 mm in diameter after puberty, is a diagnostic feature of neurofibromatosis type I (NF-1), but other features are required to diagnose NF-1. Familial multiple cafe-au-lait spots have been observed without an NF-1 diagnosis. * Noonan syndrome * Silver–Russell syndrome *

Tuberous sclerosis Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combinatio ...

* Watson syndrome *

Wiskott–Aldrich syndrome Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the e ...

Diagnosis

Diagnosis is visual with measurement of spot size. The number of spots can have clinical significance for diagnosis of associated disorders such as neurofibromatosis type I. Six or more spots of at least 5 mm in diameter in pre-pubertal children and at least 15 mm in post-pubertal individuals is one of the major diagnostic criteria for NF1.

Prognosis

Café au lait spots are usually present at birth, permanent, and may grow in size or increase in number over time. Café au lait spots are themselves benign and do not cause any illness or problems. However, they may be associated with syndromes such as neurofibromatosis type 1 and

. The size and shape of the spots can vary in terms of description. In neurofibromatosis type 1, the spots tend to be described as ovoid, with smooth borders. In other disorders, the spots can be less ovoid, with jagged borders. In neurofibromatosis type 1, the spots tend to resemble the "coast of California" rather than the "coast of Maine", meaning the edges are smoother and more linear.

Treatment

Café au lait spots can be removed with lasers. Results are variable as the spots are often not completely removed or can come back after treatment. Often, a test spot is treated first to help predict the likelihood of treatment success.

References

External links