CASE REPORT
Osteopoikilosis associated with keloids formation, rheumatoid arthritis, myasthenia, Graves` disease and megaloblastic anaemia
Submission date: 2014-03-20
Final revision date: 2014-05-26
Acceptance date: 2014-05-26
Online publication date: 2014-06-04
Publication date: 2014-04-30
Reumatologia 2014;52(2):146-152
KEYWORDS
TOPICS
ABSTRACT
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.
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Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
| eISSN: | 2084-9834 |
| ISSN: | 0034-6233 |
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