Proteus syndrome

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Proteus syndrome. This is caused by mutations in the AKT1 gene. The transmission is autosomal dominant. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the AKT1 gene
  • The transmission is autosomal dominant

Dysmorphic features

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Overgrowth features

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Neurological features

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Skeletal features

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Linear epidermal nevi

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Cerebriform connective tissue nevi (CTTN)

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Vascular malformations

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Dysregulated adipose tissue

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Cancer risk

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Other features

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Diagnostic features

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Differential diagnosis

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References

  1. Cohen MM Jr. Proteus syndrome review: molecular, clinical, and pathologic features. Clin Genet 2014; 85:111-119.
  2. Cohen MM Jr. Proteus syndrome: an update. Am J Med Genet C Semin Med Genet 2005; 137C:38-52.
  3. Alves C, Acosta AX, Toralles MB. Proteus syndrome: clinical diagnosis of a series of cases. Indian J Endocrinol Metab 2013; 17:1053-1056.
  4. Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL. Radiologic manifestations of Proteus syndrome. Radiographics 2004; 24:1051-1068.
  5. Biesecker L. The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet 2006; 14:1151-1157.
  6. And 7 more. Subscribe to see the full list

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