Proteus syndrome

Proteus syndrome (MIM 176920) causes overgrowth of various tissues with deformation and functional restriction of body regions with an onset in early childhood.

Most commonly the disorder affects the skeletal system, the skin (cerebriform soft tissue hypertrophy, epidermal naevi, vascular system and central nervous system). Affected individuals have a significantly increased risk to develop deep venous thromboses and pulmonary embolism.


The disorder is caused by the somatic mutation c.49G>A in AKT1 (MIM 164730) in the affected tissues; it may be impossible to detect in other tissues (e.g. blood) (somatic mosaicism).



Material: Tissue from affected body regions