Osteogenesis imperfecta and rheumatoid arthritis: connective issues.

The coexistence of osteogenesis imperfecta and inflammatory arthritis has been very rarely described. Nevertheless, systemic inflammation has been found in osteogenesis imperfecta. The COL1A1 mutations may affect collagen synthesis as well as post-translational modifications, extracellular matrix interactions, and receptor-mediated signaling.

Case Report: Anti-N-Methyl-D-Aspartate Receptor Encephalitis Manifesting With an Isolated Psychiatric Episode and Normal Ancillary Tests.

The majority of patients with anti-N-Methyl-D-Aspartate receptor (NMDAR) encephalitis present with psychiatric symptoms and subsequently develop neurological features. However, isolated psychiatric episodes occur in <5% of affected individuals, less frequent at disease onset (<1%) compared to relapse (4%). We report the case of a previously healthy 24-year-old female who presented with psychotic symptoms and behavioral alterations.

Osteogenesis imperfecta and rheumatoid arthritis: is there a link?

Unlabelled: We present the cases of a mother and daughter with osteogenesis imperfecta, also diagnosed later with rheumatoid arthritis. In our patients finding and treating the over-imposed arthritis improved the joint pain initially attributed to osteogenesis imperfecta. Exploring joint inflammation in this setting could help ease the disease burden.

Posttraumatic hip bulging mimicking an abscess in a patient with hip prosthesis: the role of ultrasonography.

A 48-yr old female patient, with stage 4 rheumatoid arthritis, who had undergone multiple joint prostheses including four arthroplasties of the left hip, presented for a sudden-onset large bulge on the left thigh, after a minor local injury. Orthopedic examination and radiography excluded fractures. Ultrasonography revealed a large mixed hypo- and hyperechoic collection,with no Doppler signal, but with comet tail artifacts.

Tracheal enlargement or Mounier-Kuhn syndrome in giant cell arteritis: a possible causal association with therapeutic implications.

Giant cell arteritis (GCA) is a large-vessel vasculitis with rarely described respiratory initial manifestations. We report such a case presenting with hoarseness, stridor, cough and dyspnea, in which a tracheomegaly with tracheomalacia was found. No signs of relapsing polychondritis were present.

Ultrasonographic findings in hyperimmunoglobulin D syndrome: a case report.

Hyperimmunoglobulin D syndrome due to mevalonate kinase deficiency is a rare autoinflammatory disease with digestive tract involvement. We report an 11-year female child who has presented since the age of 1 year, bouts of fever, rash, joint swelling, pulmonary consolidation, lymph node involvement and hepatosplenomegaly. Hyperimmunglobulin D and increased urinary mevalonic acid were detected.

Redundant plantar skin folds.

A 46-year-old female patient presented with photosensitivity, symmetric arthritis, episodic plantar pain and strikingly redundant plantar skin folds, likely due to lipoatrophy after recurrent episodes of plantar panniculitis. In this context, leukopenia with lymphopenia, thrombocytopenia and positive antinuclear antibodies were revelatory for systemic lupus erythematosus. However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third syndactyly and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal Proteus syndrome.

Acroosteolysis in systemic sclerosis: An insight into hypoxia-related pathogenesis.

Acro-osteolysis, or bony resorption of the terminal digital tufts, is a well-recognized, but under-researched, feature of systemic sclerosis. The mechanisms that disturbs local homeostatic balance of bone formation and resorption in favor of osteoclast activation and pathological bone loss remain to be established. Vascular alterations and reduced capillary density impair tissue oxygenation in systemic sclerosis, and the resulting hypoxia might contribute directly to the disease progression.

Mastoiditis and facial paralysis as initial manifestations of temporal bone systemic diseases - the significance of the histopathological examination.

Unlabelled: Several systemic diseases, including granulomatous and infectious processes, tumors, bone disorders, collagen-vascular and other autoimmune diseases may involve the middle ear and temporal bone. These diseases are difficult to diagnose when symptoms mimic acute otomastoiditis.

Case Reports: The present report describes our experience with three such cases initially misdiagnosed.

The role of ultrasonography in assessing disease activity in patients with rheumatoid arthritis and associated fibromyalgia.

Aim: The purpose of this study is to compare and correlate US evaluation with clinical scores of the disease activity in patients with rheumatoid arthritis (RA) and concomitant fibromyalgia (FM).

Material And Methods: Ten patients diagnosed with RA according to the 2010 ACR/EULAR classification criteria and associated FM based on the ACR 1990 classification criteria and two control groups, one with RA (10 patients) and one with FM (10 patients), were included. Clinical assessment was performed and the disease activity scores were calculated.

A case of alkaptonuria - ultrasonographic findings.

Alkaptonuria is a rare disease with autosomal recessive inheritance and variable expression. The weight-bearing joint involvement and spondylitis-like vertebral changes occur only after the 3rd decade. Musculoskeletal ultrasonographic findings in alkaptonuria were only rarely described, consisting mainly into enthesopathy and non-synovial tendon degeneration.