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

Abstract

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.

A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period

“…The IgG, IgM and IgA levels were low and frequent infections were reported in the medical history of the patient. Similarly, IgA deficiency was described previously in patients with r(18) [Ohkubo et al, 2012;Spreiz et al, 2013;Chau et al, 2017]. On the other hand, Yao et al…”

“…The present case had hypothyroidism which was reversed with thyroxine treatment; however, the blood glucose levels of the patient were in normal ranges. In previous studies [Ohkubo et al, 2012;Yao et al, 2016;Chau et al, 2017], hypothyroidism was detected in cases with r(18), while Jain et al [2011] reported a case of r(18) with hyperthyroidism. The genes involved in the development of autoimmune disease in the cases of chromosome 18 abnormalities are still not well defined.…”

“…The clinical profile of r(18) is characterized by short stature, microcephaly, mental and motor retardation, craniofacial dysmorphism, extremity anomalies, dermal lesions, genital anomalies, structural heart malformations, and kidney defects [Jain et al, 2011;Spreiz et al, 2013;Carter et al, 2015]. Other possible manifestations are epilepsy, insulin-dependent diabetes mellitus, autoimmune thyroid disease, growth hormone deficiency, hyperthyroidism, IgA deficiency, autoimmune polyglandular endocrinopathy, and rheumatoid arthritis [Dacou-Voutetakis et al, 1999;Jain et al, 2011;Lo-Castro et al, 2011;Chau et al, 2017]. It has been suggested that a mosaic ring 18 can cause Pitt-Hopkins syndrome (PTHS).…”