Cafe au lait spots


Hyperpigmented skin lesions varying from light brown to dark in color.

Borders can be smooth or irregular.

Size of lesions may vary widely.

Usually the earliest manifestations of neurofibromatosis.

May be present from infancy but are difficult to recognize.

Usually enlarge and are clinical obvious by age 2 years.

Observed in 95% of patients with neurofibromatosis type 1 (NF1).

May be associated with tuberous sclerosis, McCune-Albright syndrome and Fanconi’s anemia.

May be associated with NF2.

Caused by increased melanin, often with the presence of giant melanosomes.

For the diagnosis of NF1 the Whitehouse criteria must be met and it includes 6 or more spots in children or adults.

For children with NF1 the lesions must measure 15 mm in individuals over 5 years of age and greater than 5 mm in children less than 5 years of age.

Solitary spots may occur in 0.3% of newborn Caucasians, 3% of newborn Hispanics, 18% of newborn Blacks.

In early childhood such solitary spots occur in 13% of whites an 27% of blacks.

Lesions are benign with no associated morbidity.

Has a predilection for the trunk and extremities.

The scalp, face, palms and soles are usually spared.

No gender preference.

More common in blacks.

Wood’s lamp improves visualization of lesions at the time of birth as the lesions may be difficult to recognize.

The presence of numerous lesions suggest the presence of a genetic disorder.

Associated with underlying disorders and their physical findings which include: scoliosis, bowing of the legs, rib lesions, pseudoarthrosis, spina bifida, Lisch nodules, neurofibromas, lipomas, angiomata, ptosis glaucoma, corneal opacifications, and pheochromocytoma.

Associated syndrome includes McCune-Albright syndrome which is often noted to have a large asymmetrical spot with irregular borders, fibrous polyostotic dysplasia, pathologic bone fractures, and hyper functional endocrinopathies.

Associated with Fanconi’s anemia and mental retardation, aplastic anemia and other malignancies.

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