Café Au Lait Spots
A well-circumscribed, hyperpigmented, nonpuritic macule had been present since birth on a healthy 13-year-old boy (Figures 1 and 2). The macule measured 4 × 3 cm. The boy’s medical history was unremarkable other than a brother with precocious puberty. The lesion was identified as a café au lait spot. These spots are hyperpigmented lesions that vary in color from light brown to dark brown and reflect the name of the condition (ie, coffee with milk). Café au lait spots are more common in African Americans and can present in infancy but are often too faint to be identified at that time.1
The spots, which are a result of increased melanin deposits, can range from 1 mm to 20 cm, and they grow in proportion to the child’s size. Common locations include the torso, buttocks, and lower extremities.
The diagnosis of café au lait spots is clinical. The more important factor to consider is whether the spots are benign or are associated with a more serious diagnosis. Café au lait spots are considered benign if the patient has 2 or fewer, but if 3 or more are present, they are linked with many disorders. They have a strong association with neurofibromatosis type 1 and 2, McCune-Albright syndrome, multiple familial café-au-lait syndrome, Noonan syndrome, ring chromosome syndromes, LEOPARD/multiple lentigines syndrome, and Cowden syndrome, and they have weaker associations with other disorders.2
Clinicians should carefully take note of the border of the spots. Café au lait spots are commonly described as “coast of California” when they have a smooth border or “coast of Maine” when they have a rough border. Our patient’s spot (Figures 1 and 2) had a rough border indicative of a “coast of Maine” spot.
If more than 6 café au lait spots with a “coast of California” appear, clinicians should suspect neurofibromatosis type 1, especially if the spots are > 0.5 cm at largest diameter in a prepubertal child or > 1.5 cm in postpubertal individuals.3 Café au lait spots in neurofibromatosis type 1 are found all over the body but most often on the torso, buttocks, and leg.
Clinical suspicion for McCune-Albright syndrome is warranted if the café au lait spot has a “coast of Maine” appearance.4 In McCune-Albright, the characteristics of the spots are generally more important than the number of spots. The spots are often larger, unilateral, do not cross the midline, and follow lines of Blaschko. Their location is also an important characteristic; they are often found on the buttocks, chest, or posterior neck.
However, café au lait spots alone are not enough for a diagnosis of an underlying medical condition, and patients must meet other criteria. If enough criteria for a particular disorder are present, the pediatrician may in some cases make the diagnosis and may choose to refer the patient for genetic counseling or consultation. Treatment of the patient depends on the underlying medical condition and may involve specialists of various disciplines. In the case of our patient, clinical suspicion based on the “coast of Maine” spots led to a more thorough investigation that yielded a diagnosis of McCune-Albright syndrome.
Bhagwan Bang, MD, is a pediatrician at South Alabama Pediatrics in Opp, Alabama.
Scott Howard, BS, is a medical student at the Alabama College of Osteopathic Medicine in Dothan, Alabama.
REFERENCES
1. Tekin M, Bodurtha JN, Riccardi VM. Café au lait spots: the pediatrician’s perspective. Pediatr Rev. 2001;22(3):82-90.
2. Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatr Clin North Am. 2010;57(5):1131-1153.
3. Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13(8):834-843.
4. Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis. 2008;3:12.