Scurvy, or vitamin C deficiency, is rarely presented to a rheumatology clinic. It can mimic several rheumatologic disorders. Although uncommon, it may present as pseudovasculitis or chronic arthritis. Scurvy still exists today within certain populations, particularly in patients with neurodevelopmental disabilities, psychiatric illness or unusual dietary habits. Scurvy presentation to the rheumatologist varies from aches and mild pains to excruciating bone pain or arthritis. Musculoskeletal and mucocutaneous features of scurvy are often what prompts referrals to pediatric rheumatology clinics. Unless health care providers inquire about nutritional habits and keep in mind the risk of nutritional deficiency, it will be easy to miss the diagnosis of scurvy. Rarity of occurrence as compared to other nutritional deficiencies, combined with a lack of understanding about modern-day risk factors for nutritional deficiency, frequently leads to delayed recognition of vitamin C deficiency. We report a case of scurvy in a mentally handicapped Saudi child, who presented with new onset inability to walk with diffuse swelling and pain in the left leg. Skin examination revealed extensive ecchymoses, hyperkeratosis and follicular purpura with corkscrew hairs, in addition to gingival swelling with bleeding. Clinical diagnosis of scurvy was rendered and confirmed by low serum vitamin C level. The patient did extremely well with proper nutritional support and vitamin C supplementation. It has been noticed lately that there is increased awareness about scurvy in rheumatology literature. A high index of suspicion, together with taking a thorough history and physical examination, is required for diagnosis of scurvy in patient who presents with musculoskeletal symptoms. Nutritional deficiency should also be considered by the rheumatologist formulating differential diagnosis for musculoskeletal or mucocutaneous complaints in children, particularly those at risk.

OTU deubiquitinase with linear linkage specificity (OTULIN) regulates inflammation and cell death by deubiquitinating linear ubiquitin chains generated by the linear ubiquitin chain assembly complex (LUBAC). Biallelic loss-of-function mutations causes OTULIN-related autoinflammatory syndrome (ORAS), while OTULIN haploinsuffiency has not been associated with spontaneous inflammation. However, herein, we identify two patients with the heterozygous mutation p.Cys129Ser in OTULIN. Consistent with ORAS, we observed accumulation of linear ubiquitin chains, increased sensitivity to TNF-induced death, and dysregulation of inflammatory signaling in patient cells. While the C129S mutation did not affect OTULIN protein stability or binding capacity to LUBAC and linear ubiquitin chains, it did ablate OTULIN deubiquitinase activity. Loss of activity facilitated the accumulation of autoubiquitin chains on LUBAC. Altered ubiquitination of LUBAC inhibits its recruitment to the TNF receptor signaling complex, promoting TNF-induced cell death and disease pathology. By reporting the first dominant negative mutation driving ORAS, this study expands our clinical understanding of OTULIN-associated pathology.

To the Editor: Rosai-Dorfman disease (RDD) is a rare disorder in childhood. The association of RDD and systemic lupus erythematosus (SLE) is very rare, with only 2 previously reported cases, and neither of these in a child1,2. We describe a child who presented with histopathology-confirmed RDD, and developed SLE 3 years later. A 7-year-old boy of Canadian First Nations background presented at age 4 years to the pediatric hematology/oncology clinic with a 3-month history of asymptomatic, bilateral massive lymphadenopathy involving the cervical, supraclavicular, mediastinal, hilar, and axillary lymph nodes. He has a healthy fraternal twin, and there is no family history of connective tissue diseases. The lymphadenopathy failed to respond to a course of antibiotics. Laboratory tests showed mild microcytic hypochromic anemia with lymphopenia [white blood cells (WBC) 6.29 x 109/l, hemoglobin 103 g/l, mean corpuscular volume 74.3 fl, mean corpuscular hemoglobin 23.5 pg/cell, platelets 262 x 109/l, lymphocytes 0.63 x 109/l, absolute neutrophil count 4.98 x 109/l) and high erythrocyte sedimentation rate, 63 mm/h. Serial chest radiographs showed persistent nonprogressive large bilateral mediastinal, hilar, right infrahilar, and paratracheal lymphadenopathy (Figure 1). Computed tomography scan showed adenopathy, airway narrowing, and atelectasis as well as superior vena cava displacement (Figure … Address correspondence to Dr. Alqanatish; E-mail: jqanatish{at}hotmail.com

Rheumatic fever (RF) is a common cause of acquired heart disease in children worldwide. It is a delayed, nonsuppurative, autoimmune phenomenon following pharyngitis, impetigo, or scarlet fever caused by group A β-hemolytic streptococcal (GAS) infection. RF diagnosis is clinical and based on revised Jones criteria. The first version of the criteria was developed by T. Duckett Jones in 1944, then subsequently revised by the American Heart Association (AHA) in 1992 and 2015. However, RF remains a diagnostic challenge for clinicians because of the lack of specific clinical or laboratory findings. As a result, it has been difficult for some time to maintain a balance between over- and underdiagnosis of RF cases. The Jones criteria were revised in 2015 by the AHA, and the main modifications were as follows: the population was subdivided into moderate- to high-risk and low risk; the concept of subclinical carditis was introduced; and monoarthritis was included as a feature of musculoskeletal inflammation in the moderate- to high-risk population. This review will highlight the major changes in the AHA 2015 revised Jones criteria for pediatricians and general practitioners.

Relapsing polychondritis (RP) is a rare auto-immune disease that causes progressive destruction of cartilaginous structures. Most cases of pediatric-onset RP were published as a single case report or hand-full case series although the prevalence of RP is unknown. This review aimed to describe the characteristics of pediatric-onset RP in order to provide a comparison between childhood and adulthood features of the disease and to review the experiences of biological agents used in children with RP. In children, the diagnosis of RP is either delayed or overlooked due to low incidence and variability in clinical features. Treatment of RP is challenging due to the recurrent episodic nature of the disease. Different immunosuppressive medications, including steroid and steroid-sparing disease-modifying antirheumatic drugs (DMARDs), such as methotrexate or azathioprine, are used to treat RP. There is no rigorous clinical research to support the use of new therapeutic modalities, including biological agents. It is challenging to protocolize the treatment of pediatric-onset RP due to the rarity of the disease. Corticosteroids are the primary form of therapy. However, DMARDs and biological agents may have a role in treating patients with sustained or refractory disease.