Hyperpigmented Macules: Solitary and Multiple Café au Lait Macules

The 12-year-old boy in Figure A has one large and one small café au lait macule and a single hypopigmented macule. Solitary café au lait macules may be present in as many as 30% of newborns. They vary in size from a few millimeters to several centimeters. The macules may be inconspicuous until the affected area is exposed to the sun.

Parents frequently ask about these lesions. Fortunately, the vast majority of solitary café au lait macules have no clinical significance. This patient enjoys robust good health.

In contrast, the 9-year-old girl in Figure B shows classic features of neurofibromatosis type 1 (NF-1) with axillary freckling and multiple café au lait macules.

NF-1 may be diagnosed when any 2 of the following are present:

1. Six or more café au lait macules over 5 mm in diameter in prepubertal persons or over 15 mm in postpubertal persons.
2. Axillary or inguinal freckling.
3. Two or more iris Lisch nodules.
4. Two or more neurofibromas or one plexiform neurofibroma.
5. A distinctive osseous lesion.
6. Optic gliomas.
7. A first-degree relative with NF-1.

Café au lait macules are present in 100% of patients with NF-1; these are usually scattered over the trunk and extremities. Their size, number, and pigmentation increase with age.

Neurofibromas--like the one shown in Figure C in a 19-year-old woman--are small, rubbery lesions with a purplish discoloration overlying the skin. They may also be situated along peripheral nerves and blood vessels within viscera. Plexiform neurofibromas may appear as larger, more hyperpigmented café au lait macules. These lesions result from thickening of nerve trunks and are usually located in the orbital or temporal region.