Cutaneous manifestations of proteus syndrome: correlations with general clinical severity.

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.