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A Case Report of a Mild and Atypical Presentation of Proteus Syndrome.

Pediatric dermatology - 1 Jan 2026

Alarcón-Pérez Camilo E, Ivars Marta, Lavarino Cinzia, Paco Sonia, Martínez-Monseny Antonio, Baselga-Torres Eulàlia

Abstract excerpt

Proteus syndrome (PS) is a rare genetic disorder caused by mosaic AKT1 mutations, leading to progressive and asymmetric overgrowth. We report a mildly symptomatic 12-year-old male with left lower limb overgrowth and an epidermal nevus, whose diagnosis was confirmed through molecular diagnostics. Targeted NGS identified the pathogenic AKT1 c.49G>A mutation in affected tissues, supporting the diagnosis despite the...

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PMID: 40903926
DOI: 10.1111/pde.70035

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AKT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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