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Correlations With General Clinical Severity

Diem Nguyen, MD; Joyce T. Turner, MS, CGC; Cara Olsen, MS; Leslie G. Biesecker, MD; Thomas N. Darling, MD, PhD

Arch Dermatol. 2004;140:947-953.

Background  Proteus syndrome is a rare congenital disorder with progressive asymetric overgrowth of multiple tissues.

Objectives  To determine the range of cutaneous findings in Proteus syndrome and to correlate cutaneous findings with overall disease severity.

Design  A prospective cohort study was performed at the National Institutes of Health, a tertiary referral center.

Patients  Twenty-four consecutive children and adults with Proteus syndrome meeting recent diagnostic criteria.

Interventions  Physical examination, including complete skin examination, and review of medical records.

Main Outcome Measures  Frequency of skin findings; correlation of skin findings with extracutaneous findings; cluster analysis of findings.

Results  The 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.

Conclusions  Patients 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.

From the Departments of Dermatology (Drs Nguyen and Darling) and Preventive Medicine and Biometrics (Ms Olsen), Uniformed Services University of the Health Sciences, Bethesda, Md, and the Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda (Ms Turner and Dr Biesecker). Dr Nguyen is now with the Department of Dermatology, University of Michigan, Ann Arbor. The authors have no relevant financial interest in this article.

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