Cutaneous manifestations of proteus syndrome: correlations with general clinical severity

Abstract

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.