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Kosaki / Penttinen syndromes

Kosaki syndrome and Pentinen syndrome are ultra-rare genetic disorders. 

 

Around 30 patients are currently known internationally.

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Kosaki syndrome was first described in Japan in 2015. This syndrome is also known as Kosaki overgrowth syndrome (KOGS) because it leads to an excessive growth of certain parts of the body.


Penttinen syndrome (PS) was discovered in Finland in the late 1990s. This syndrome is also called Premature ageing syndrome, Penttinen-type because it is responsible for premature ageing of the body.
 

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Symptomatology & Complications

KOGS and PS are multisystem disorders. They are responsible for many symptoms in patients. The spontaneous course of these syndromes can lead to serious complications, with a high risk of disability.

Etiology

These syndromes are caused by activating variants of the PDGFRB gene that lead to excessive cell proliferation. 

etiology
treatment

Treatment

Tyrosine Kinase Inhibitors (TKIs), which have long been used for other diseases and target the PDGFRB protein involved in KOGS/PS syndromes, may slow the progression of the diseases.

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