RT Journal
A1 Nguyen D, Turner JT, Olsen C, Biesecker LG, Darling TN
T1 Cutaneous manifestations of proteus syndrome: Correlations with general clinical severity
JF Archives of Dermatology
JO Archives of Dermatology
YR 2004
FD August 1
VO 140
IS 8
SP 947
OP 953
DO 10.1001/archderm.140.8.947
UL http://dx.doi.org/10.1001/archderm.140.8.947
AB 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.