Literature DB >> 15858474

Evolution of skin lesions in Proteus syndrome.

James V Twede1, Joyce T Turner, Leslie G Biesecker, Thomas N Darling.   

Abstract

BACKGROUND: Proteus syndrome is a rare overgrowth disorder that is generally progressive, but the natural history of the skin lesions is not known.
OBJECTIVE: Our purpose was to document the evolution of 4 common skin lesions in 16 patients with Proteus syndrome.
RESULTS: Most epidermal nevi and vascular malformations were reported to appear in the first month of life and had little tendency for expansion or development of additional lesions. Subcutaneous lipomas and cerebriform connective tissue nevi were commonly noted in the first year of life, but not in the first month. Most patients reported that subcutaneous lipomas and cerebriform connective tissue nevi progressively increased in size, and in most patients additional lesions developed at new locations. Of the 4 types of skin lesions, plantar cerebriform connective tissue nevi were most frequently cited as a source of symptoms.
CONCLUSION: Skin lesions of Proteus syndrome may not appear until later infancy or early childhood, making it difficult to diagnose in young children.

Entities:  

Mesh:

Year:  2005        PMID: 15858474     DOI: 10.1016/j.jaad.2004.12.047

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  7 in total

1.  A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.

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

Review 2.  Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

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

3.  Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome.

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

4.  Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome.

Authors:  Thomas M Beachkofsky; Julie C Sapp; Leslie G Biesecker; Thomas N Darling
Journal:  J Am Acad Dermatol       Date:  2010-08-14       Impact factor: 11.527

5.  Lack of mutation-histopathology correlation in a patient with Proteus syndrome.

Authors:  Meggie E Doucet; Hadley M Bloomhardt; Krzysztof Moroz; Marjorie J Lindhurst; Leslie G Biesecker
Journal:  Am J Med Genet A       Date:  2016-04-26       Impact factor: 2.802

6.  AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome.

Authors:  Marjorie J Lindhurst; Ji-An Wang; Hadley M Bloomhardt; Alison M Witkowski; Larry N Singh; David P Bick; Michael J Gambello; Cynthia M Powell; Chyi-Chia Richard Lee; Thomas N Darling; Leslie G Biesecker
Journal:  J Invest Dermatol       Date:  2013-07-24       Impact factor: 8.551

7.  Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome.

Authors:  Christopher A Ours; Mia B Hodges; Neal Oden; Julie C Sapp; Leslie G Biesecker
Journal:  Orphanet J Rare Dis       Date:  2022-04-23       Impact factor: 4.303

  7 in total

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