Targeted gene(s)/phenotype under study



Kosaki overgrowth syndrome is an ultrarare disorder characterized by characteristic facial features, tall stature, scoliosis, hyperelastic thin skin with lipodystrophy. Vascular and neurological deterioration may arise. This disorder is due to heterozygous activating variants in PDGFRB, also responsible for Penttinen syndrome and infantile myofibromatosis.

Imatinib has been used successfully for years in the treatment of lymphoid and myeloid neoplasms with PDGFRB rearrangements, by downregulating PDGFRB. To date, 5 patients have been reported in the literature with Penttinen syndrome and infantile myofibromatosis, with interesting results.

We would like to set up a consortium for treating Kosaki syndrome, with the establishment of a common protocol and follow-up meetings. This consortium will optimise the sharing of knowledge and experience around the efficacy and tolerance of Imatinib.

To date, this consortium brings together 5 international teams following a patient with Kosaki syndrome and interested in a therapeutic project (France, UK, Sweden, Spain and Australia). We are looking for teams who would be interested in joining this consortium.

Coordinating clinicians /researchers 

Pr Laurence Faivre


Genetic Department ,
Dijon University Hospital,