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Proteus syndrome: new findings in seven patients
M del Rosario Barona-Mazuera1, L R Hidalgo-Galván, de la Luz Orozco-Covarrubias
1Department of Pediatric Dermatology, National Institute of Pediatrics, Mexico City.
Insights
This study details seven children with Proteus syndrome (PS), highlighting common and novel clinical features. Findings expand understanding of this rare genetic disorder and inform diagnosis and management.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Proteus syndrome (PS) is a rare congenital overgrowth disorder.
- Previous literature describes characteristic clinical manifestations of PS.
Purpose of the Study:
- To report new clinical findings in seven children diagnosed with Proteus syndrome.
- To discuss the etiology, differential diagnosis, and treatment of PS.
Main Methods:
- Case series reporting on seven pediatric patients with Proteus syndrome.
- Review of clinical findings and comparison with existing literature.
Main Results:
- Majority of findings align with established PS literature.
- Novel findings include blue sclerae, telecanthus, epiblepharon, endotropy, optic nerve hemimegaly, occipital dysmyelination, corpus callosum compression, craniosynostosis, long bone abnormalities, and talipes equinus.
Conclusions:
- The reported cases expand the spectrum of known Proteus syndrome manifestations.
- Further research into the etiology and treatment strategies for Proteus syndrome is warranted.
Abstract:
Seven children with Proteus syndrome (PS) are reported. The majority of clinical findings coincide with what is reported in the literature. New findings were blue sclerae, telecanthus, epiblepharon, endotropy, hemimegaly of the optic nerve, occipital dysmyelination and compression of the corpus callosum, craneosynostosis, decalcification and thinning of the cortical layer of long bones, and talipes equinus. The clinical findings, possible etiology, differential diagnosis, and treatment of PS are discussed.