Familial isolated café-au-lait macules
ORPHA:2678· ICD-10 L81.3
Definition
A rare hyperpigmentation of the skin characterized by the presence of several café-au-lait macules without any other manifestations of neurofibromatosis or any other systemic disorder. The macules may appear in infancy, but usually they are detected after 2 years of age. Hyperpigmented lesions may have smooth or irregular borders. Their size vary from a few millimeters to more than 10 cm.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood