Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18

F1000Res. 2017 Nov 2;6:1940. doi: 10.12688/f1000research.11539.2. eCollection 2017.


Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal arm deletions. It is most commonly presented as a combination of 18p- and distal 18q- syndrome. IgA deficiency and autoimmune diseases have been previously described in these patients. Seven cases of juvenile rheumatoid arthritis (JRA) have been reported. Here we report the first case of late onset rheumatoid arthritis (RA) in a 32 year old Dominican woman with hypothyroidism, vitiligo, IgA deficiency, interstitial lung disease (ILD), cystic bronchiectasis, and features consistent with ringed 18, 18p- and distal 18q syndrome. The multiple autoimmune findings in our patient lends further support to the idea of loci on chromosome 18 playing a role in autoimmune disease expression. Late onset RA and ILD in a patient with chromosome 18 abnormalities are novel findings and are additional conditions to be aware of in this population.

Keywords: interstitial lung disease; rheumatoid arthritis; ring chromosome 18.

Grant support

The author(s) declared that no grants were involved in supporting this work.