🧬 Rare clinical case: mutilating osteoarthropathy and pronounced bone marrow plasmacytosis A 12-year-old patient. The disease manifested in childhood and is characterized by a progressive familial course: a similar clinical picture is observed in two brothers.
🦴 Bone and joint syndrome There is marked mutilation and progressive deformation of the hands and feet.
Resorption and osteolysis of the distal phalanges, carpal and metatarsal bones are observed, leading to telescopic shortening of the fingers and severe foot deformity.
Dactylitis with characteristic “sausage-like” deformity of the fingers is also noted.
🔬 Bone marrow picture Plasma cells constitute about 30%.
Some plasma cells show signs of morphological atypia: increased cell size, polymorphism, and altered nucleo-cytoplasmic ratio.
Mott cells and Russell bodies were identified, reflecting pronounced secretory activity of plasma cells and accumulation of immunoglobulins in the cytoplasm.
🧩 Given the early onset of the disease, familial nature, progressive osteolysis, and mutilating osteoarthropathy, hereditary osteoarthropathies, including Torg–Winchester syndrome, are considered in the differential diagnostic search.
At the same time, pronounced bone marrow plasmacytosis requires a separate assessment of its nature and exclusion of a monoclonal process.
For further verification of the diagnosis, the following are planned:
- whole exome sequencing — WES;
- serum protein immunofixation — IFE.
The final diagnosis will be formulated after receiving the results of molecular genetic and immunological studies.
🙏 The publication was kindly provided by Zebiniso Kholmuradova, morphologist, 🇺🇿 Uzbekistan, Kashkadarya Multidisciplinary Children’s Medical Center.
