Showing papers on "Majeed syndrome published in 2018"
TL;DR: Treatment of chronic nonbacterial osteomyelitis depends on disease severity and includes nonsteroidal antiinflammatory drugs, bisphosphonates, and cytokine inhibitors.
85 citations
TL;DR: Current treatment options are non-steroid anti-inflammatory drugs like naproxen, as the primary choice, and the bisphosphonates such as pamidronate as the second choice, to counter the symptoms and to reduce bone lesions.
Abstract: Chronic recurrent multifocal osteomyelitis (CRMO) is a sporadic condition of inflammatory bone pain that occurs as recurrent flares because of osteomyelitis, which presents in the form of multiple aseptic foci. The estimated prevalence of CRMO is 1-2 per million, affecting mostly children, in the age group of 2 to 17. Main symptoms of CRMO are bone inflammation and pain, which are generally worse at night. Other symptoms seen on radiographs indicate osteolytic lesions surrounded by sclerosis, at later stages of the disease. Markers of inflammation, viz. tumor necrosis factor a and C-reactive protein are elevated in many cases. Because of similar symptoms, differential diagnosis is needed to confirm CRMO from infectious osteomyelitis, bone tumors, and other diseases. The genetic component is likely in some cases such as Majeed syndrome, deficiency of IL-1 antagonist, etc. Imaging is the essential part of diagnosing CRMO, and magnetic resonance imaging of the whole body is the most widely used and recommended method for the evaluation of multiple foci, as compared to radiography for reasons of sensitivity as well as prevention of excessive exposure of affected children to radiation. CRMO is considered an autoimmune and auto-inflammatory disorder, but its precise pathophysiology is not clear. Current treatment options are non-steroid anti-inflammatory drugs like naproxen, as the primary choice, and the bisphosphonates such as pamidronate as the second choice, to counter the symptoms and to reduce bone lesions. The surgical option is the choice for recalcitrant cases, even though recurrence may still be a problem.
24 citations
TL;DR: An overview of the diverse bone manifestations identified in the genetically defined AIDs is provided, the hypotheses of the underlying pathophysiological mechanisms are discussed and potential novel therapeutic strategies are highlighted.
Abstract: Until recently the most common autoinflammatory diseases (AIDs) associated with bone disease in childhood included a few genetically complex (chronic non-bacterial osteomyelitis, synovitis, acne, pustulosis, hyperostosis and osteitis syndrome) and monogenic (Majeed syndrome, deficiency of IL-1 receptor antagonist, cherubism) AIDs. However, the spectrum of monogenic AIDs associated with bone manifestations has markedly expanded to include both recently identified diseases such as the type I interferonopathies and also newly recognized bone dysplasias in already established AIDs. In addition, we propose that some known bone dysplasia syndromes, especially those presenting with hyperostosis and associated systemic inflammation, be classified as AIDs. Collectively, we provide an overview of the diverse bone manifestations identified in the genetically defined AIDs, discuss the hypotheses of the underlying pathophysiological mechanisms and highlight potential novel therapeutic strategies.
16 citations
TL;DR: A five-year old boy who was admitted to the hospital with pustular skin lesions and fever in the first month of his life and was treated with recombinant IL-1Ra, anakinra, and experienced significant clinical improvement.
Abstract: Sozeri B, Gerceker-Turk B, Yildiz-Atikan B, Mir S, Berdeli A. A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment. Turk J Pediatr 2018; 60: 588-592. Autoinflammatory diseases can cause severe inflammation in bone and skin such as neonatal-onset multisystem inflammatory disease (NOMID), Majeed syndrome, interleukin-36 receptor antagonist deficiency (DITRA) and deficiency of interleukin-1 (IL-1) receptor antagonist (DIRA) syndrome. Here we report a five-year old boy who was admitted to the hospital with pustular skin lesions and fever in the first month of his life. Molecular analysis of IL1RN gene revealed a single homozygous C nucleotide deletion at nucleotide position 396 (p.Thr133Profs*118). The novel p.Thr133Profs*118 mutation found in our study caused frameshift mutation and as a result, the respective protein is most likely non-functional. The patient, who received a variety of treatments for various preliminary diagnoses until the final diagnosis (DIRA), was treated with recombinant IL-1Ra, anakinra, and experienced significant clinical improvement.
16 citations
TL;DR: The case series with only male affection is rather unique as compared to other case series reported in medical literature which tend to have more female predilection.
Abstract: Background: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare auto-inflammatory disease of the bone. It tends to be multifocal and usually the symptoms tend to run for months and years before diagnosis is usually made. The objective of our study was to understand the clinical presentation and short-term response to treatment of CRMO patients. Materials and Methods: A retrospective analysis of patients diagnosed with CRMO between 2011 and 2016 was done. Case records of these were retrospectively reviewed for clinical features, investigations and treatment received. Results: Six patients were diagnosed with CRMO. The median age of onset and time to diagnosis from onset of symptoms was 8 and 3.5 years respectively. Lower limb bones were the most commonly involved. Conclusions: There is significant delay in diagnosis of CRMO and this could be because of a lack of awareness of this condition amongst clinicians. Our case series with only male affection is rather unique as compared to other case series reported in medical literature which tend to have more female predilection. Pain with or without swelling was the most common symptom. Most of patients responded to combination therapy.
8 citations