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Proteus syndrome review: molecular, clinical, and pathologic features
1Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
Clinical Genetics
|September 3, 2013
Summary
Proteus syndrome, a mosaic disorder, stems from an AKT1 mutation. It presents with variable overgrowth, bone issues, connective tissue nevi, and other diverse clinical features.
Area of Science:
- Genetics and Molecular Biology
- Dermatology
- Pediatric Endocrinology
Background:
- Proteus syndrome is a rare mosaic disorder characterized by variable clinical manifestations.
- The underlying genetic cause is an activating mutation in the AKT1 gene (c.49G>A, p.Glu17Lys).
Purpose of the Study:
- To provide a comprehensive overview of Proteus syndrome.
- To detail the genetic basis, clinical features, and diagnostic considerations.
Main Methods:
- Review of existing literature and case studies.
- Analysis of the genetic mutation (c.49G>A, p.Glu17Lys) in AKT1.
- Compilation of clinical features and diagnostic criteria.
Main Results:
- The AKT1 mutation (c.49G>A, p.Glu17Lys) is causative for Proteus syndrome.
- Key features include asymmetric overgrowth, bone abnormalities, cerebriform connective tissue nevi, epidermal nevi, vascular malformations, and dysregulated adipose tissue.
- Other manifestations encompass lung alterations, neoplasms, facial phenotype with intellectual disability/seizures, and deep vein thrombosis.
Conclusions:
- Accurate diagnosis relies on recognizing the diverse clinical spectrum and genetic findings.
- Management requires a multidisciplinary approach addressing diagnostic criteria, natural history, psychosocial aspects, and differential diagnoses.
Keywords:
AKT1 mutationJoseph Merrickbullous lung alterationscerebriform connective tissue nevusdeep vein thrombosisdiagnostic criteriadifferential diagnosisdisproportionate overgrowthdysregulated adipose tissueepidermal nevusmanagementnatural historypsychosocial issuesskeletal anomaliesunusual neoplasmsvascular malformations
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