eISSN: 2084-9834
ISSN: 0034-6233
Reumatologia/Rheumatology
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2/2014
vol. 52
 
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abstract:
Case report

Osteopoikilosis associated with keloids formation, rheumatoid arthritis, myasthenia, Graves` disease and megaloblastic anaemia

Irena Zimmermann-Górska

Reumatologia 2014; 52, 2: 146–152
Online publish date: 2014/06/04
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Osteopoikilosis is an uncommon hereditary dysplasia of skeleton characterized by small sclerotic foci clustered mainly in periarticular osseus regions. The radiographic pattern is pathognomonic. The disease can be a result of the loss-of-function mutations in LEMD3 – the gene responsible for bone density which can influence also on the expression of transforming growth factor β1 (TGF-β1) signalling. TGF-β1 is a key mediator of fibrosis and a modulator of immune responses. Patients with osteopoikilosis demonstrate a higher incidence of keloid formation and autoimmune diseases. In the presented case osteopoikilosis was associated with keloids formation and autoimmune diseases: rheumatoid arthritis, myasthenia, Graves’ disease and megaloblastic anaemia.
keywords:

osteopoikilia, bliznowce, towarzyszące choroby autoimmunologiczne





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