Características radiológicas de la artropatía microcristalina asociada a hemocromatosis hereditaria con mutación homocigota C282Y / Radiological features of crystal-induced arthropathy associated with hereditary hemochromatosis with homozygous C282Y mutation

Se expone el caso clínico de un paciente varón de 64 años con hemocromatosis (homocigoto C282Y) y artropatía microcristalina mostrando las características radiológicas más comunes que se encuentran en este trastorno metabólico y las diferencias que pueden existir al compararla con otros procesos degenerativos primarios u otras patologías inflamatorias

I present a clinical case of a 64-year-old male patient with hemochromatosis (homozygous C282Y) and crystal induced arthropathy showing the most common radiological features found in this metabolic disorder and the differences that may exist when compared to other primary degenerative processes or other inflammatory pathologies

Identification of a distinct imaging phenotype may improve the management of palindromic rheumatism.

OBJECTIVES: To use high-resolution imaging to characterise palindromic rheumatism (PR) and to compare the imaging pattern observed to that seen in new-onset rheumatoid arthritis (NORA). METHODS: Ultrasound (US) assessment of synovitis, tenosynovitis and non-synovial extracapsular inflammation (ECI) was performed during and between flares in a prospective treatment-naive PR cohort. MRI of the flaring region was performed where possible. For comparison, the same US assessment was also performed in anticyclic citrullinated peptide (CCP) positive individuals with musculoskeletal symptoms (CCP+ at risk) and patients with NORA. RESULTS: Thirty-one of 79 patients with PR recruited were assessed during a flare. A high frequency of ECI was identified on US; 19/31 (61%) of patients had ECI including 12/19 (63%) in whom ECI was identified in the absence of synovitis. Only 7/31 (23%) patients with PR had synovitis (greyscale ≥1 and power Doppler ≥1) during flare. In the hands/wrists, ECI was more prevalent in PR compared with NORA and CCP+ at risk (65% vs 29 % vs 6%, p<0.05). Furthermore, ECI without synovitis was specific for PR (42% PR vs 4% NORA (p=0.003) and 6% CCP+ at risk (p=0.0012)). Eleven PR flares were captured by MRI, which was more sensitive than US for synovitis and ECI. 8/31 (26%) patients with PR developed RA and had a similar US phenotype to NORA at progression. CONCLUSION: PR has a distinct US pattern characterised by reversible ECI, often without synovitis. In patients presenting with new joint swelling, US may refine management by distinguishing relapsing from persistent arthritis.

Ten trigger fingers in an adult man: a case report.

Trigger finger is a common disease particularly in the middle aged women. A very rare case in which an adult man had 10 trigger fingers was experienced. He was treated with local steroid injections in both thumbs, but trigger finger disease has been aggravated in every digit of both hands. We performed an early operative treatment. Three months after the operation, the patient could perform his work without discomfort in his hands and showed normal range of motion in all fingers.

Tenosynovitis and osteoclast formation as the initial preclinical changes in a murine model of inflammatory arthritis.

OBJECTIVE: To determine the nature of the initial changes of joint inflammation occurring before, at the time of, and shortly after onset of clinically apparent arthritis. METHODS: Human tumor necrosis factor (TNF)-transgenic mice were assessed for clinical, histologic, immunophenotypic, serologic, and molecular changes at the preclinical phase of arthritis, at the onset of disease, and at the stage of early clinical disease. In addition, the effects of a genetic osteoclast deficiency and pharmacologic inhibition of TNF were studied in these initial phases of disease. RESULTS: Initial articular changes were observed even before the start of clinical symptoms. Infiltration of the tendon sheaths by granulocytes and macrophages as well as formation of osteoclasts next to the inflamed tendon sheaths were the first pathologic events. Tenosynovitis rapidly led to remodeling of the sheaths into pannus-like tissue, which formed osteoclasts that invaded the adjacent mineralized cartilage. Early lesions were associated with up-regulation of interleukin-1 (IL-1) and IL-6 as well as activation of p38 MAPK and ERK. In contrast, absence of osteoclasts led to uncoupling of tenosynovitis from invasion into cartilage and bone. TNF blockade also attenuated the pathologic changes associated with tenosynovitis. CONCLUSION: Structural damage begins even before the onset of clinical symptoms of arthritis and involves the tendon sheaths as well as adjacent cartilage and bone. These results suggest that tenosynovitis is an initiating feature of arthritis and that joint destruction starts right from the onset of disease. Our findings thus underscore the importance of immediate initiation of an effective therapy in patients with rheumatoid arthritis.

Ten Trigger Fingers in an Adult Man: A Case Report

Trigger finger is a common disease particularly in the middle aged women. A very rare case in which an adult man had 10 trigger fingers was experienced. He was treated with local steroid injections in both thumbs, but trigger finger disease has been aggravated in every digit of both hands. We performed an early operative treatment. Three months after the operation, the patient could perform his work without discomfort in his hands and showed normal range of motion in all fingers.

Molecular cytogenetic characterization of tenosynovial giant cell tumors.

Tenosynovial giant cell tumor (TSGCT) is a disease of disputed etiology and pathogenesis. Some investigations indicate a neoplastic origin of the tumors; others indicate that they are polyclonal and inflammatory. The cytogenetic and molecular genetic features of TSGCTs are largely unknown, as only some 20 localized and 30 diffuse tumors with cytogenetic aberrations have been reported. The most common karyotypic aberrations have been trisomy for chromosomes 5 and 7 and translocations involving chromosomal area 1p11-13. We decided to screen the genomes of TSGCTs by comparative genomic hybridization (CGH) to perform interphase fluorescence in situ hybridization (IP-FISH), looking for numerical aberrations of chromosomes 1, 5, and 7, and to analyze the tumors for microsatellite instability. Except for two diffuse TSGCTs that came fresh to us, and which, by karyotyping, exhibited t(1;22)(p13;q12) and a t(1;1)(q21;p11) and +7, respectively, all studies had to be performed on formalin-fixed, paraffin-embedded material. DNA was extracted from 51 localized and nine diffuse TSGCTs. CGH was successful for 24 tumors, but none of them showed copy number changes. The IP-FISH studies showed trisomy 7 in 56% of the tumors (15/27), whereas chromosomes 1 and 5 seemed to be disomic in all TSGCTs. All informative tumors were wild-type by microsatellite instability analysis.

Clinical and genetic aspects of psoriatic arthritis "sine psoriasis".

OBJECTIVE: To characterize the clinical pattern of psoriatic arthritis (PsA) sine psoriasis. METHODS: Fifty-seven patients (31 men, 26 women, mean age 46.32 +/- 14.12 yrs) with undifferentiated spondyloarthropathy (SpA) were studied. Two subsets were defined: (1) 21 patients with familial psoriasis (12 men, 9 women, mean age 49.29 +/- 14.17 yrs); (2) 36 patients without familial psoriasis (19 men, 17 women, mean age 44.58 +/- 14.00 yrs). The prevalence of the following clinical variables was evaluated: low back pain, enthesopathy, dactylitis, distal interphalangeal (DIP) arthritis, spinal involvement, and discitis. In all patients the following HLA haplotypes were tested: B7, B13, B17, B18, B27, B38, Cw6, and DR7. RESULTS: Dactylitis and DIP arthritis were markedly present in the articular subset with familial psoriasis (p < 0.0001) that also showed a high frequency rate of HLA-Cw6 (p < 0.0001 vs controls and patients without familial psoriasis). HLA-B27 was markedly frequent in patients without familial psoriasis (p < 0.0001 vs controls and p = 0.019 vs patients with familial psoriasis). In addition, in patients with familial psoriasis the log-linear model showed that the presence of HLA-Cw6 was related to the presence of DIP arthritis as well as dactylitis (likelihood ratio chi-square change of 5.891 and p = 0.015). CONCLUSION: A subset of patients with PsA "sine psoriasis" is identified by the occurrence of a SpA with dactylitis and/or DIP arthritis, presence of HLA-Cw6, and familial psoriasis in first or second-degree relatives.

Analysis of 35 cases of localized and diffuse tenosynovial giant cell tumor: a report from the Chromosomes and Morphology (CHAMP) study group.

The karyotypes of 44 specimens from 35 patients with localized (n = 19) or diffuse (n = 16) tenosynovial giant cell tumors were studied. The majority of cases in both categories (11 of 19 localized; 12 of 16 diffuse) displayed clonal chromosomal aberrations, with a complex karyotype in three cases and a simple chromosomal aberration in the others. No difference in the distribution of karyotypic abnormalities was found between the localized and diffuse form except for trisomies (usually of chromosomes 5 and/or 7), which were more frequent in the diffuse type. The short arm of chromosome 1 (1p11-13) was most frequently rearranged, with 7 of 11 localized and 7 of 12 diffuse lesions affected. These findings indicate that the localized and diffuse forms of tenosynovial giant cell tumor might represent two morphologic manifestations of the same entity. The high frequency of clonal chromosomal abnormalities, with a clustering of structural rearrangements to 1p11-13, suggests that this disease is most likely neoplastic in nature and paves the way to search for gene(s) that might be involved in its development.

A new cytogenetic subgroup in tenosynovial giant cell tumors (nodular tenosynovitis) is characterized by involvement of 16q24.

Cytogenetic investigations have already shown the nonrandom involvement of region 1p11-p13 in the localized and diffuse forms of tenosynovial giant cell tumors. We describe a new case of modular tenosynovitis with rearrangement of 16q24. Our findings and the data from the literature strongly indicated band 16q24 as an important new breakpoint for the localized as well as diffuse forms of tenosynovial giant cell tumors.

Primary familial bilateral carpal tunnel syndrome.

We identified bilateral carpal tunnel syndrome in 19 of 43 living persons of a nonconsanguineous family. No single common etiologic feature was seen. Sixty-three percent of the afflicted kindred had symptomatic digital flexor tenosynovitis. Noninflammatory thickening of the flexor retinaculum or tendon sheaths, or both, was the commonest surgical finding. The 44% prevalence, early age of onset, and equal sex ratio differ from idiopathic carpal tunnel syndrome. Family pedigree suggests an inheritable disorder transmitted by an autosomal dominant gene with a high degree of penetrance.