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Neurofibromatosis

Do these axillary freckles signal an underlying disorder?

DAVID L. KAPLAN, MD—Series Editor University of Missouri Kansas City, University of Kansas

DAVID L. KAPLAN, MD—Series Editor: Dr Kaplan is clinical assistant professor of dermatology at the University of Missouri Kansas City School of Medicine and at the University of Kansas School of Medicine. He practices adult and pediatric dermatology in Overland Park, Kan.

Neurofibromatosis

Axillary freckles are noted on a 28-year-old woman during a skin examination.

Which of the following signs do you need to look for when this freckling is found?

A. Shagreen patch.

B. Café au lait spots.

C. Koenen tumors.

D. Angiofibromas.

E. Ash-leaf macule.

 

Answer: Multiple (more than 6), large (greater than 1 cm) café au lait spots, B, are markers that are seen with axillary freckling and suggest neurofibromatosis. The four other options are cutaneous features of tuberous sclerosis.