KOGS and PS are due to heterozygous activating variants in PDGFRB, which may be de novo (accidental), or inherited from a parent. This gene codes for a protein, PDGFRβ, which plays an essential role in the development of tissues and organs, being involved in the processes of cell proliferation and division in tissues such as skin, bone and blood vessels.

 

When a variant occurs, this protein is permanently active, leading to a deregulation of the processes of cell proliferation and division and explaining the symptoms. Variants of this gene have also been reported in patients with myofibromatosis, which are rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, etc, and can be rarely reported in patients with KOGS/PS and also in vascular aneurysms.