Cafe au Lait Spot

Pediatric pt presents with multiple hyperpigmented macules and patches. Some lesions have been present since birth while others developed in childhood. Family h/o 1st degree relative with neurofibromatosis type 1. Exam reveals axillary/groin freckling, two cutaneous neurofibromas, and multiple hyperpigmented macules/patches with discrete borders measuring 0.2 to 30 cm in diameter.

A cafe au lait birthmark on the left cheek of a patient with a U.S. dime used to indicate scale.

A cafe au lait birthmark on the left cheek of a patient with a U.S. dime used to indicate scale.

  • Refer to ophthalmology to evaluate for iris hamartomas (Lisch nodules) and optic gliomas

  • Refer for genetic consultation

  • Pt advised that surgical or laser ablation of cafe au lait spots is only indicated for cosmetic purposes

Adult patient with multiple small cutaneous neurofibromas and a café au lait spot (bottom of photo, to the right of center).

Adult patient with multiple small cutaneous neurofibromas and a café au lait spot (bottom of photo, to the right of center).

Notes

  • Cafe au lait spots can be benign or associated with neurofibromatosis

  • If a patient does not meet NIH neurofibromatosis criteria, the macule is benign

  • NIH criteria for neurofibromatosis requires the presence of two or more of the following:

    1. Six or more café au lait macules/patches larger than 5 mm in greatest diameter in prepubertal persons and larger than 15 mm in greatest diameter in postpubertal persons

    2. Freckling in the axillary or inguinal region

    3. Two or more neurofibromas of any type or one plexiform neurofibroma

    4. Optic glioma

    5. Two or more Lisch nodules (iris hamartomas)

    6. A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis

    7. A first-degree relative (i.e., parent, sibling, child) with neurofibromatosis type 1 by the above criteria