Literature DB >> 33910840

Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings.

Reinhard E Friedrich1.   

Abstract

BACKGROUND/AIM: Proteus syndrome is a sporadic disease that is particularly noticeable due to the disproportional growth of body segments. The disease is a genetic mosaic. The mutations can arise from any of the germ layers, an explanation of the very variable phenotype. The aim of this report is to communicate the diagnosis and management of an unusual case of Proteus Syndrome with special attention to oral and craniofacial findings. CASE REPORT: A 15-year-old patient was referred for surgical treatment of pronounced skull malformations and correction of oral mucosal hyperplasia. Treatment caused significant improvement in facial appearance and oral soft tissue conditions.
CONCLUSION: Surgical measures adapted to the local findings and symptoms can often relieve severe disfigurement of the patient. Copyright
© 2021, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

Entities:  

Keywords:  Proteus syndrome; cerebriform connective tissue nevus; gingival hyperplasia; osteotomy; overgrowth syndrome; spine deformity; swallowing dysfunction

Mesh:

Year:  2021        PMID: 33910840      PMCID: PMC8193322          DOI: 10.21873/invivo.12415

Source DB:  PubMed          Journal:  In Vivo        ISSN: 0258-851X            Impact factor:   2.155


  66 in total

1.  The manifold faces of proteus syndrome.

Authors:  Rudolf Happle
Journal:  Arch Dermatol       Date:  2004-08

2.  Dentomaxillofacial imaging in Proteus syndrome.

Authors:  H Korbmacher; M Tietke; U Rother; B Kahl-Nieke
Journal:  Dentomaxillofac Radiol       Date:  2005-07       Impact factor: 2.419

3.  Assessment and management of the orthopedic and other complications of Proteus syndrome.

Authors:  Laura L Tosi; Julie C Sapp; Elizabeth S Allen; Regis J O'Keefe; Leslie G Biesecker
Journal:  J Child Orthop       Date:  2011-05-28       Impact factor: 1.548

Review 4.  Proteus syndrome: a newly recognized hamartomatous syndrome with significant craniofacial dysmorphology.

Authors:  A G Tattelbaum; C R Dufresne
Journal:  J Craniofac Surg       Date:  1995-03       Impact factor: 1.046

5.  A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Authors:  Marjorie J Lindhurst; Julie C Sapp; Jamie K Teer; Jennifer J Johnston; Erin M Finn; Kathryn Peters; Joyce Turner; Jennifer L Cannons; David Bick; Laurel Blakemore; Catherine Blumhorst; Knut Brockmann; Peter Calder; Natasha Cherman; Matthew A Deardorff; David B Everman; Gretchen Golas; Robert M Greenstein; B Maya Kato; Kim M Keppler-Noreuil; Sergei A Kuznetsov; Richard T Miyamoto; Kurt Newman; David Ng; Kevin O'Brien; Steven Rothenberg; Douglas J Schwartzentruber; Virender Singhal; Roberto Tirabosco; Joseph Upton; Shlomo Wientroub; Elaine H Zackai; Kimberly Hoag; Tracey Whitewood-Neal; Pamela G Robey; Pamela L Schwartzberg; Thomas N Darling; Laura L Tosi; James C Mullikin; Leslie G Biesecker
Journal:  N Engl J Med       Date:  2011-07-27       Impact factor: 91.245

6.  Periodontal findings and other oral manifestations in Proteus syndrome: a case report.

Authors:  Antonio Canabarro; Tania Maria Galheigo; Diogo Galheigo de Oliveira e Silva; Eduardo Muniz Barretto Tinoco
Journal:  Quintessence Int       Date:  2008-04       Impact factor: 1.677

Review 7.  The Proteus syndrome: CNS manifestations.

Authors:  R B Dietrich; D E Glidden; G M Roth; R A Martin; D S Demo
Journal:  AJNR Am J Neuroradiol       Date:  1998-05       Impact factor: 3.825

Review 8.  Musculoskeletal manifestations of Proteus syndrome: report of two cases with literature review.

Authors:  S Stricker
Journal:  J Pediatr Orthop       Date:  1992 Sep-Oct       Impact factor: 2.324

9.  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

10.  [Proteus syndrome with cerebral vascular malformations].

Authors:  M C Badia; R Chamarro; J M Làinez; A Piera
Journal:  Neurologia       Date:  2006-03       Impact factor: 3.109

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