In neurofibromatosis, an autosomal dominant inherited disease, both nodular and diffuse pendulous neurofibromas occur on the skin and (rarely) in the oral cavity. A concomitant finding is the presence of “café au lait” pigmentation.
As the term implies, these lesions have the color of coffee with cream and vary from small ephelis-like macules to broad diffuse lesions. They tend to appear in late childhood and can be multiple; many overlie the neurofibromatous swellings on the skin.
Rarely, oral pigmentation is encountered. Importantly, the patient will manifest cutaneous signs as the predominant feature of the disease.
Microscopically, café au lait spots represent basilar melanosis without melanocyte proliferation.
Microscopically, café au lait spots represent basilar melanosis without melanocyte proliferation.