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Proteus syndrome review: molecular, clinical, and pathologic features
Cohen Jr, M. Michael
Clinical genetics, 2014-02, Vol.85 (2), p.111-119
[Periódico revisado por pares]
Oxford, UK: Blackwell Publishing Ltd
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Título:
Proteus syndrome review: molecular, clinical, and pathologic features
Autor:
Cohen Jr, M. Michael
Assuntos:
AKT1 mutation
;
AKT1 protein
;
bullous lung alterations
;
cerebriform connective tissue nevus
;
deep vein thrombosis
;
Diagnosis, Differential
;
diagnostic criteria
;
differential diagnosis
;
disproportionate overgrowth
;
dysregulated adipose tissue
;
epidermal nevus
;
Genetic disorders
;
Genetic research
;
Humans
;
Joseph Merrick
;
Lipoma - genetics
;
management
;
Mutagenesis
;
Mutation, Missense - genetics
;
natural history
;
Pathogenesis
;
Phenotype
;
Proteus Syndrome - diagnosis
;
Proteus Syndrome - genetics
;
Proteus Syndrome - pathology
;
Proto-Oncogene Proteins c-akt - genetics
;
psychosocial issues
;
skeletal anomalies
;
Studies
;
unusual neoplasms
;
vascular malformations
É parte de:
Clinical genetics, 2014-02, Vol.85 (2), p.111-119
Notas:
istex:206645A4D3861054490DEA3CA4EF748CDF340163
This publication is dedicated to the memory of my Fellow Bernarda Strauss, MD
ArticleID:CGE12266
ark:/67375/WNG-DX081BKM-D
ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
ObjectType-Feature-3
ObjectType-Review-1
Descrição:
Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those observed in other disorders; (iii) a characteristic cerebriform connective tissue nevus made up of highly collagenized connective tissue; (iv) epidermal nevi in early life, consisting of acanthosis and hyperkeratosis; (v) vascular malformations of the capillary, venous, or lymphatic types; (vi) dysregulated adipose tissue including lipomas, lipohypoplasia, fatty overgrowth, and localized fat deposits; (vii) other unusual features, including bullous lung alterations; specific neoplasms; a facial phenotype associated with intellectual disability and/or seizures, and/or brain malformations; and (viii) deep vein thrombosis, resulting in premature death. Concluding remarks address diagnostic criteria, natural history, management, psychosocial issues, and differential diagnosis.
Editor:
Oxford, UK: Blackwell Publishing Ltd
Idioma:
Inglês
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