• Diem Nguyen, Joyce T Turner, Cara Olsen, Leslie G Biesecker, and Thomas N Darling.
• Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
• Arch Dermatol. 2004 Aug 1; 140 (8): 947-53.

BackgroundProteus syndrome is a rare congenital disorder with progressive asymetric overgrowth of multiple tissues.ObjectivesTo determine the range of cutaneous findings in Proteus syndrome and to correlate cutaneous findings with overall disease severity.DesignA prospective cohort study was performed at the National Institutes of Health, a tertiary referral center.PatientsTwenty-four consecutive children and adults with Proteus syndrome meeting recent diagnostic criteria.InterventionsPhysical examination, including complete skin examination, and review of medical records.Main Outcome MeasuresFrequency of skin findings; correlation of skin findings with extracutaneous findings; cluster analysis of findings.ResultsThe 24 patients had skin abnormalities: 22 (92%) had lipomas, 21 (88%) had vascular malformations, 20 (83%) had cerebriform connective tissue nevi on the soles of the feet, 16 (67%) had epidermal nevi, 9 (38%) had partial lipohypoplasia, and 5 (21%) had patchy dermal hypoplasia. Some patients had localized alterations in skin pigmentation and hair or nail growth. Patients with a greater number of skin abnormalities tended to have a greater number of extracutaneous abnormalities. The number of abnormalities tended to increase with age up to 8 years.ConclusionsPatients with Proteus syndrome exhibit a variable but defined assortment of cutaneous findings. The correlation between numbers of cutaneous and extracutaneous is consistent with the postulated mosaic basis for this syndrome.

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