''Café au lait'' spots, or ''café au lait'' macules, are flat, hyperpigmented birthmarks. The name '' café au lait'' is French for "coffee with milk" and refers to their light-brown color. 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 have smooth borders ("coast of California"). 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 heart. ...

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 Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown sp ...

and McCune–Albright syndrome.

Cause

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

Basal cell nevus syndrome Basal or basilar is a term meaning ''base'', ''bottom'', or ''minimum''. Science * Basal (anatomy), an anatomical term of location for features associated with the base of an organism or structure * Basal (medicine), a minimal level that is nece ...

* 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 pyogeni ...

* Congenital melanocytic naevus *

Fanconi anemia Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of nor ...

* Gaucher disease * Hunter syndrome * Jaffe–Campanacci syndrome * Legius syndrome * Maffucci syndrome *They can be caused by vitiligo in the rare McCune–Albright syndrome. * 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 Familial multiple cafe au lait spots, also known as Autosomal dominant multiple cafe au lait spots or Neurofibromatosis type 6, is a rare, cutaneous genetic disorder which is characterized by the hereditary cutaneous presence of several cafe-au-l ...

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 combination ...

Watson syndrome Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas. Watson syndrome is allelic to ...

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 eczem ...

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 5mm in diameter in pre-pubertal children and at least 15mm in post-pubertal individuals is one of the major diagnostic criteria for

NF1 Neurofibromin 1 (''NF1'') is a gene in humans that is located on chromosome 17. ''NF1'' codes for neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP. ''N ...

Prognosis

Café au lait spots are usually present at birth, permanent, and may grow in size or increase in number over time. Cafe 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 Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown sp ...

and McCune-Albright syndrome. 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