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.
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.
Authors: Jamie S Wee; Peter S Mortimer; Marjorie J Lindhurst; Heung Chong; Leslie G Biesecker; Colin A Holden Journal: JAMA Dermatol Date: 2014-09 Impact factor: 10.282
Authors: Kim M Keppler-Noreuil; Jasmine Burton-Akright; Marjorie J Lindhurst; Jasmine Shwetar; Julie C Sapp; Thomas Darling; Leslie G Biesecker Journal: Cold Spring Harb Mol Case Stud Date: 2019-08-01
Authors: Smita Jha; Nadja Fratzl-Zelman; Paul Roschger; Georgios Z Papadakis; Edward W Cowen; Heeseog Kang; Tanya J Lehky; Katharine Alter; Zuoming Deng; Aleksandra Ivovic; Lauren Flynn; James C Reynolds; Abhijit Dasgupta; Markku Miettinen; Eileen Lange; James Katz; Klaus Klaushofer; Joan C Marini; Richard M Siegel; Timothy Bhattacharyya Journal: J Bone Miner Res Date: 2018-09-14 Impact factor: 6.741
Authors: Neera Nathan; Kim M Keppler-Noreuil; Leslie G Biesecker; Joel Moss; Thomas N Darling Journal: Dermatol Clin Date: 2017-01 Impact factor: 3.478
Authors: Neera R Nathan; Rachna Patel; Molly M Crenshaw; Marjorie J Lindhurst; Cara Olsen; Leslie G Biesecker; Kim M Keppler-Noreuil; Thomas N Darling Journal: J Am Acad Dermatol Date: 2017-10-16 Impact factor: 11.527