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

Reinhard E Friedrich

doi:10.21873/invivo.12415

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

Standard

Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings. / Friedrich, Reinhard E.

in: IN VIVO, Jahrgang 35, Nr. 3, 30.04.2021, S. 1583-1594.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Friedrich, RE 2021, 'Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings', IN VIVO, Jg. 35, Nr. 3, S. 1583-1594. https://doi.org/10.21873/invivo.12415

APA

Friedrich, R. E. (2021). Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings. IN VIVO, 35(3), 1583-1594. https://doi.org/10.21873/invivo.12415

Vancouver

Friedrich RE. Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings. IN VIVO. 2021 Apr 30;35(3):1583-1594. https://doi.org/10.21873/invivo.12415

Bibtex

@article{2cd96ee1dcbd4cb3b67b0bdd6e792ded,

title = "Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings",

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.",

keywords = "Adolescent, Humans, Hyperplasia, Mutation, Phenotype, Proteus Syndrome/diagnosis",

author = "Friedrich, {Reinhard E}",

year = "2021",

month = apr,

day = "30",

doi = "10.21873/invivo.12415",

language = "English",

volume = "35",

pages = "1583--1594",

journal = "IN VIVO",

issn = "0258-851X",

publisher = "International Institute of Anticancer Research",

number = "3",

}

RIS

TY - JOUR

T1 - Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings

AU - Friedrich, Reinhard E

PY - 2021/4/30

Y1 - 2021/4/30

N2 - 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.

AB - 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.

KW - Adolescent

KW - Humans

KW - Hyperplasia

KW - Mutation

KW - Phenotype

KW - Proteus Syndrome/diagnosis

U2 - 10.21873/invivo.12415

DO - 10.21873/invivo.12415

M3 - SCORING: Journal article

C2 - 33910840

VL - 35

SP - 1583

EP - 1594

JO - IN VIVO

JF - IN VIVO

SN - 0258-851X

IS - 3

ER -