Proteus syndrome

Evidence-based neurology checklist on proteus syndrome: Genetics This is caused by mutations in the AKT1 gene The transmission is autosomal dominant Dysmorphic features Overgrowth features Neurological features Skeletal features Linear epidermal nevi Cerebriform connective tissue nevi (CTTN)…

Genetics

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

Dysmorphic features

Overgrowth features

Neurological features

Skeletal features

Linear epidermal nevi

Cerebriform connective tissue nevi (CTTN)

Vascular malformations

Dysregulated adipose tissue

Cancer risk

Other features

Diagnostic features

Differential diagnosis

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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