Café au lait spots - Café au lait macules

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What are café au lait spots?
Café au lait (CAL) macules or café au lait spots are flat hyperpigmented lesions. The term "café au lait" means "coffee with milk" and these macules are colored light brown to dark brown.
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These lesions are common in children. They are well-circumscribed and have even increase in the melanin pigment deposit.

The café au lait spots appear in infancy and may not be discernible. They may be observed with Wood lamp as faint lesions. As the child grows, they may enlarge in size, darken and become obvious by the age of two years. These skin lesions, as such are harmless, but are more frequently observed in patients with certain genetic and systemic diseases.

The café au lait macules occur with greater frequency in populations of Hispanic and African origins. There is no gender predilection and these skin hyperpigmentation spots can be seen in all age groups. The size and number of these skin lesions vary widely among individuals. The presence of six or more café au lait spots larger than 5 mm in diameter in children should raise the suspicion of a genetic or systemic disorder.
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Café au lait macules causes

Café au lait spots are caused by an increase in melanin deposits in the epidermal cells of the lesion area. These lesions may arise from diverse and unrelated causes. In patients with neurofibromatosis type 1 (NF1), there is significant increase in the melanocyte density. The café au lait lesions associated with genetic and systemic disorders are caused by, inheritance, mutations in specific genes and spontaneous mutations.

Syndromes associated with café au lait spots

The presence of café au lait macules is one of the symptoms of genetic and systemic diseases such as neurofibromatosis type 1 (NF1), McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia.

Neurofibromatosis type 1 (NF1)

Neurofibromatosis type 1 (NF1) is the most common type of neurofibromatosis, affecting about 1 in 3,000 newborns. Café au lait spots are usually the earliest manifestations of NF1. These macules are observed in nearly 95% of patients with NF1. The presence of six or more café au lait macules larger than 5 mm in diameter and also freckling in the axillary or inguinal regions is one of the diagnostic criteria for NF1. NF1 causes tumors along the nervous system with symptoms such as multiple small cutaneous neurofibromas, optic gliomas, vision disorders, cognitive problems and epilepsy. It is an inherited disorder caused by mutation in the NF1 gene located on chromosome number 17.
Café au lait macules
Café au lait spots

Neurofibromatosis type 2 (NF2)

Neurofibromatosis type 2 (NF2) is a rare type of neurofibromatosis, affecting 1 in 33,000 individuals. Patients with NF2 have mutation in NF2 gene located on chromosome number 22. They develops tumours on the nerves responsible for hearing and balance. They will have gradual hearing loss, that usually gets worse over time. They may also have café au lait macules.

Legius syndrome

Legius syndrome (LS) is an autosomal dominant genetic disorder. Nearly all LS patients have café au lait macules. LS is often mistaken for neurofibromatosis type I. It is caused by mutations in the SPRED1 gene. Other skin manifestations are, hyperpigmentation spots in the armpits and/or groin. The patient may suffers from lipomas, macrocephaly, ADHD, delayed development and cognitive problems.

McCune-Albright syndrome

McCune–Albright syndrome is a genetic disorder of bones, skin pigmentation and hormonal problems. McCune-Albright syndrome is caused by mutations in the GNAS1 gene. The condition is characterized by bone fractures, deformity of the legs, arms and skull, gigantism, large café au lait macules, hyperpigmentation spots on the skin and early puberty.

Fanconi anemia

Fanconi anemia (FA) is primarily an autosomal recessive genetic disease. So far 17 gene mutations have been linked to Fanconi anemia. FA is characterized by hematological abnormalities, which progress into macrocytosis, megaloblastic anemia, pancytopenia, hemorrhage, bone marrow failure, myelodysplastic syndromes and acute myeloid leukemia. Skin manifestations include petechiae, hyperpigmentation macules and café au lait spots.

Tuberous sclerosis

Tuberous sclerosis is a rare genetic disorder caused by a mutation of gene TSC1 or TSC2. Benign tumors grow on various vital organ systems of the body. Skin manifestations include, café au lait spots, a rash of reddish spots on the face, periungual fibromas, hypomelanotic macules, raised, discolored areas on the forehead, shagreen patches and hyperpigmentation macules.

Bloom–Torre–Machacek syndrome

Bloom syndrome is a rare autosomal recessive disorder with several debilitating manifestations and shortened life expectancy. Bloom syndrome is also characterized by skin manifestations like skin sensitivity to light, skin rash, pigmentation changes, telangiectasias and café au lait spots. Persons with Bloom syndrome are predisposed to develop cancers due to genome instability and immunodeficiency.

Café au lait macules symptoms

These lesions have the typical color of milk added coffee. The Café au lait spots vary in size, appearing as small freckles to large macules. The CAL spots, not associated with any neurocutaneous disorders or genetic abnormalities, usually appear as large, solitary, light brown to brown macules. Freckling in the axillary or inguinal regions and the presence of six or more café au lait macules larger than 5 mm in diameter are symptoms of NF1.

Café au lait macules diagnosis

In infants, if café au lait spots are suspected, Wood lamp is a handy tool for finding the faint marks. Current guidelines support evaluation of children with multiple macules for genetic disorders, especially NF1. The macules associated with genetic syndromes require genetic testing and counseling. The CAL lesions may have to be differentiated from melanocytic nevi, Becker's nevus, nevus spilus and nevus simplex.

Café au lait macules treatment

Café au lait spots without any association to systemic disorders, need no treatment. If the lesions are of cosmetic concern, they can be removed with lasers. Laser therapy with lasers such as PDL, Er:YAG, QS Nd:YAG, has given varying degree of success. In some cases of café au lait lesions complete clearance was achieved whereas in some cases there was recurrence or postinflammatory hyperpigmentation. The size of the macule, its location and the presence of associated disorder, if any, will help in selecting the best course of treatment for cafe au Lait spots.
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References:
1.Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatr Clin North Am. 2010 Oct;57(5):1131-53. doi: 10.1016/j.pcl.2010.07.002.
2.Ponti G, Tomasi A, Pastorino L, Ruini C, Guarneri C, Mandel VD, Seidenari S, Pellacani G. Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome. Hered Cancer Clin Pract. 2012 Oct 29;10(1):15. doi: 10.1186/1897-4287-10-15.
3.Tekin M, Bodurtha JN, Riccardi VM. Café au lait spots: the pediatrician's perspective. Pediatr Rev. 2001 Mar;22(3):82-90.
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