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June 20, 2011

Multiple Café au Lait Macules and Crowe Sign—Quiz Case

Author Affiliations
 

MARY S.STONEMDSOONBAHRAMIMDCARRIE ANN R.CUSACKMDSENAIT W.DYSONMDMOLLY A.HINSHAWMDARNI K.KRISTJANSSONMD

Arch Dermatol. 2011;147(6):735-740. doi:10.1001/archdermatol.2011.126-a

A 20-year-old woman was referred to our department for evaluation of multiple café au lait macules (CALMs), which had progressively developed since the first months of life. Her familial and personal medical history was unremarkable. The physical examination disclosed an apparently healthy woman with approximately 25 CALMs sparsely distributed on the trunk, head, and lower extremities, 6 of them larger than 15 mm in diameter. Bilateral axillary and inguinal freckling (Crowe sign) was also noted. No neurofibromas were identified, and slitlamp ophthalmologic examination ruled out the presence of Lisch nodules. A punch biopsy specimen from a CALM was obtained. Neurological examination and neuroimaging studies showed no abnormalities. Findings from abdominal ultrasonography and blood pressure values were normal. Orthopedic examination disclosed mild dorsal scoliosis. A comprehensive mutational analysis for the neurofibromatosis type 1 (NF1) gene (OMIM 613113) was negative. Representative clinical and histopathologic features are illustrated in Figures 1, 2, and 3.

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