Childhood Familial Mediterranean Fever in the United States: Spectrum of Clinical Phenotypes and MEFV Genotypes in a Cohort From Southeast Michigan.

Objectives: The aim of this study was to report the spectrum of Familial Mediterranean Fever (FMF) in children living in Southeast Michigan.

Methods: We reviewed prerecorded data in medical records of FMF patients. Statistical analysis of the data included Fisher exact test, Pearson χ 2 procedure, parametric independent samples t test, and parametric analysis of variance using SPSS Version 29.

Unusual Presentation of Thrombotic Thrombocytopenic Purpura in a Newly Diagnosed Pediatric Patient With Systemic Lupus Erythematosus in the Setting of MIS-C.

The understanding of coronavirus disease 2019 (COVID-19) immune dysregulation is evolving. Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease with alternations in both innate and adaptive immunity, probably caused by a complex interplay of genetics and environmental exposure with various triggers. A rare hematological complication of SLE as well as recently reported in an adult with COVID-19 is thrombotic thrombocytopenic purpura.

Atypical Noninfectious Surgically Induced Necrotizing Scleritis in a Child.

Surgically induced necrotizing scleritis (SINS) is recognized as a rare and vision-threatening complication of ocular surgery. In adults, it has been mostly described after multiple ocular surgical procedures such as pterygium excision, glaucoma, and retinal detachment in the same eye. SINS is relatively less likely with single ocular surgery.

The genomic landscape of pediatric rheumatology disorders in the Middle East.

The landscape and clinical utility of comprehensive genomic investigations for a wide range of pediatric rheumatic disorders have not been fully characterized in the Middle East. Here, 71 pediatric patients, of diverse Arab origins, were clinically and genetically assessed for a spectrum of rheumatology-related diseases at the only dedicated tertiary children's hospital in the United Arab Emirates. Clinical genomic investigations included mainly (76%) next-generation sequencing-based gene panels and whole-exome sequencing, along with rapid sequencing in the intensive care unit and urgent setting.

Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis.

Background: A spectrum of rare noninflammatory disorders may present with arthropathy that arises from bony dysplasia, a thickened synovium, and noninflammatory effusion, leading to a constellation of clinical features that mimics chronic polyarticular juvenile idiopathic arthritis (JIA). We report a unique Arabic family harboring a novel pathogenic variant in the WISP3 gene and presenting with progressive pseudorheumatoid dysplasia (PPRD), a rare noninflammatory arthropathy mimicking polyarticular JIA.

Case Presentation: An Arabic family with PPRD was diagnosed using whole-exome sequencing (WES), revealing a novel c.

Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).

To define the spectrum and phenotypic characteristics of systemic autoinflammatory diseases (SAIDs) other than familial Mediterranean fever (FMF) in Arab children and to delineate diagnostic evaluation. Data retrospectively collected on patients with clinical and/or genetically proven SAIDs other than FMF at 10 tertiary Arab pediatric rheumatology clinics from 1990 to 2018. The collected data comprised the clinical findings and diagnostic evaluation including genetic testing, the provided treatment and the accrual damage related to SAIDs.

Clinical and genetic association, radiological findings and response to biological therapy in seven children from Qatar with non-bacterial osteomyelitis.

Aim: We aim to report the clinical manifestations, genetic testing results, magnetic resonance imaging (MRI) findings and biologics used in the management of non-bacterial osteomyelitis in our center.

Methods: We conducted a retrospective review of medical records. A previously proposed classification was implemented as follows: chronic recurrent multifocal osteomyelitis (CRMO), chronic non-bacterial osteomyelitis (CNBO) and acute non-bacterial osteomyelitis.

Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred.

Hyperimmunoglobulinemia D Syndrome (HIDS) has rarely been reported in Arabs. Moreover, the simultaneous presence of mutations in MEFV and MVK segregating in the same family is exceptional. We report an Arabic girl presenting since the age of 8-years with two patterns of recurrent episodes of fever, and associated with a spectrum of clinical features suggestive of overlap between familial Mediterranean fever (FMF) and HIDS.

A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome.

Autoinflammatory disorders are a group of Mendelian disorders characterized by seemingly unprovoked inflammatory bouts without high-titer autoantibodies or antigen-specific T-cells and are probably due to defects in the innate immunity. We here report on a 4-year-old Arabic boy with the clinical presentation of an autoinflammatory disorder, namely Pyogenic Arthritis, Pyoderma Gangrenosum and Acne (PAPA) syndrome. The presentation includes abscess formation after immunization and recurrent mono-articular acute arthritis in various joints that responded favourably to systemic glucocorticosteroids, albeit without acne or pyoderma gangrenosum.

Clinical and genetic profile of children with periodic fever syndromes from a single medical center in South East Michigan.

Objective: To report a cohort of children with periodic fever syndromes (PFS) from Southeast Michigan.

Methods: A retrospective review of medical records for patients referred for periodic fever over 5 years.

Results: Sixty-six patients including 21 FMF, 15 PFAPA, four TRAPS and one patient with combined HIDS and FMF were included.

Granulomatosis with polyangiitis presenting as Henoch-Schönlein purpura in children.

Granulomatosis with polyangiitis (GPA), formerly known as Wegener granulomatosis, in children is an uncommon chronic organ- and life-threatening systemic vasculitis that may share at time of initial presentation a number of clinical features in common with Henoch-Schönlein purpura (HSP), a very common and comparatively benign form of childhood vasculitis. Diagnosis of GPA requires a high index of suspicion, and antineutrophil cytoplasmic antibody tests along with tissue biopsy are helpful tools for diagnosis. We report 2 patients with GPA masqueraded as HSP at time of initial presentation.

Inflammatory and noninflammatory arthropathy in patients with 18q deletion syndrome.

A 7-year-old girl with 18q deletion syndrome developed chronic progressive polyarticular inflammatory arthropathy. Atypical features of her arthritis included lack of morning stiffness, absence of pain and discomfort, normal acute-phase reactants, and the presence of clinodactyly, low-set thumbs, metatarsus adductus of her feet, and overriding nontender swollen toes. She had a positive antinuclear antibody test, negative rheumatoid factor and anti-cyclic citrullinated peptide, and undetectable immunoglobulin A level.

Pachydermatodactyly mimics polyarticular juvenile idiopathic arthritis.

Pachydermatodactyly is an infrequently recognized disorder characterized by painless swelling of the soft tissues around the proximal interphalangeal joints. We report 2 cases erroneously diagnosed as polyarticular juvenile idiopathic arthritis, then referred to pediatric rheumatology for further assessment because of lack of improvement after initial treatment.

Cutaneous polyarteritis nodosa in children.

The purpose of this study was to present the clinical courses and histologic findings of 4 children with cutaneous vasculitis characterized by tender cutaneous nodules and fever in the absence of major organ involvement. We conducted a retrospective chart review of 4 patients with cutaneous vasculitis followed up for a mean of 68 months (range, 12-114 months). The patients included 3 boys and 1 girl (ages at onset, 2-10 years).