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We read with interest the paper by Banka et al1 who identify microduplications of chromosome 8q22 as the cause of Leri’s pleonostosis, a disease belonging to the ‘transforming growth factor beta (TGF-beta)-pathies’ group of musculoskeletal disorders. We have been involved in the identification of rare monogenic systemic lupus erythematosus (SLE), especially inherited interferonopathies,2 ,3 and we agree with the authors that the common phenotype of autoimmune diseases, such as SLE and systemic sclerosis (SSc), could be explained by involvement of different disease-associated genes in related physiological pathways. Herein we aim to report for the first time that mutation in matrix metalloproteinase-2 (MMP-2) may result in scleroderma-like skin thickening.
A 12-year-old girl was referred because of distal osteoporosis revealed by several pathological appendicular fractures since the age of 8 years. There was no family history. Physical evaluation revealed mildly coarse face, hypertrophic scars and keloids, …
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