A case of pachydermaperiostosis with myelofibrosis and treatment with ruxolitinib.

Abstract

Pachydermaperiostosis (PDP) is a rare condition of connective tissue presenting with abnormal skin and skeletal findings that usually occur as a complication of an underlying disease, especially malignancies. We described a case of a patient with severe transfusion-dependent anemia and both skin and joint findings, diagnosed as PDP. The haematological assessment revealed myelofibrosis as the underlying disease, and treatment with ruxolitinib as the first-line choice was given by skipping hydroxyurea due to pancytopenia. The patient got benefits in arthralgia and amelioration of pancytopenia and a reduced spleen volume was observed, despite the negative result for JAK2 gene mutation. This is the first case of ruxolitinib being used in PDP with myelofibrosis, and it highlights the importance of evaluating PDP as not just a skin and joint problem but a result of systemic disease and individual-based treatment.