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Sterile Multifocal Osteomyelitis with Periostitis and Pustulosis

DIRA


Presentation

  • It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.[ncbi.nlm.nih.gov]
  • Acronym DIRA Synonyms Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • It presents major topics of immunology through a selection of clinical cases that reinforce and extend the basic science. Each case history is preceded by essential scientific facts about the immunological mechanisms of that specific disorder.[books.google.com]
  • Practical tables provide a quick reference to essential information, including normal developmental anatomic milestones, developmental anomalies, common presentations and symptoms of diseases, and much more. 400 new and replacement images are added to[books.google.com]
  • Since DIRA is recessively inherited, these data suggest that it may be present in about 1 in 6,300 births in this population. Mutations may also be more common in individuals of Dutch descent.[ipfs.io]
Swelling
  • Other: Periarticular swelling caused by epifyseal overgrowth, oral mucosa lesions and vasculitis. Not much fever.[bindevevssykdommer.no]
  • Symptoms of Osteomyelitis, sterile multifocal, with periostitis and pustulosis Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Stomatitis Abnormality of metabolism/homeostasis Joint swelling Abnormality of[familydiagnosis.com]
  • […] of childhood, skin, systemic and rheumatological Phenotypes Arthralgia ; Autosomal recessive inheritance ; Epidermal acanthosis ; Fetal distress ; Fused cervical vertebrae ; Hepatomegaly ; Hyperkeratosis ; Interstitial pulmonary abnormality ; Joint swelling[mousephenotype.org]
  • Children with the disorder display a constellation of serious and potentially fatal symptoms that include swelling of bone tissue; bone pain and deformity; inflammation of the periosteum (a layer of connective tissue around bone); and a rash that can[ipfs.io]
  • Joint swelling MedGen UID: 56258 • Concept ID: C0152031 • Finding The presence of swelling in a joint.[ncbi.nlm.nih.gov]
Asymptomatic
  • At least three of the mutations are founder mutations; heterozygous carriers were asymptomatic, with no cytokine abnormalities in vitro.[lup.lub.lu.se]
  • These are a benign, self-limited, asymptomatic skin diseases that occur in the first days of life. Newborn Skin: Part I. Common Rashes ; Newborn Skin: Part I. Common Rashes NiNa R. O’CONNOR ...[ykdsaznl.tk]
  • Some lesions might be asymptomatic and are incidentally found on radiographs of other regions.[jocr.co.in]
Malnutrition
  • Nutrition in CKD : 5th edition [PDF] Malnutrition in chronic kidney disease (CKD) is common but is often undiagnosed. This evidence-based clinical practice guideline summarises the main interventions that may be recommended in the...[evidence.nhs.uk]
Splenomegaly
  • Abnormality of the digestive system Hepatomegaly Splenomegaly Abnormality of the immune system Osteomyelitis Splenomegaly ... ...[familydiagnosis.com]
  • […] recessive inheritance ; Epidermal acanthosis ; Fetal distress ; Fused cervical vertebrae ; Hepatomegaly ; Hyperkeratosis ; Interstitial pulmonary abnormality ; Joint swelling ; Osteolysis ; Osteomyelitis ; Periostitis ; Pustule ; Respiratory distress ; Splenomegaly[mousephenotype.org]
  • Hepatomegaly, splenomegaly or hepatosplenomegaly is common. Risk of organ failure if DIRA is untreated. [16] Lymphatic: Splenomegaly is common. [16] Joints bones muscles cartilage: Joint swelling and severe bone pain.[autoinflammatory-search.org]
  • Periostitis MedGen UID: 45816 • Concept ID: C0031111 • Disease or Syndrome Inflammation of the periosteum Splenomegaly MedGen UID: 52469 • Concept ID: C0038002 • Finding Abnormal enlargement of the spleen.[ncbi.nlm.nih.gov]
  • Splenomegaly. Good response to steroids. High rate of self-resolution during adulthood. Amyloidosis is rare.[printo.it]
Splenomegaly
  • Abnormality of the digestive system Hepatomegaly Splenomegaly Abnormality of the immune system Osteomyelitis Splenomegaly ... ...[familydiagnosis.com]
  • […] recessive inheritance ; Epidermal acanthosis ; Fetal distress ; Fused cervical vertebrae ; Hepatomegaly ; Hyperkeratosis ; Interstitial pulmonary abnormality ; Joint swelling ; Osteolysis ; Osteomyelitis ; Periostitis ; Pustule ; Respiratory distress ; Splenomegaly[mousephenotype.org]
  • Hepatomegaly, splenomegaly or hepatosplenomegaly is common. Risk of organ failure if DIRA is untreated. [16] Lymphatic: Splenomegaly is common. [16] Joints bones muscles cartilage: Joint swelling and severe bone pain.[autoinflammatory-search.org]
  • Periostitis MedGen UID: 45816 • Concept ID: C0031111 • Disease or Syndrome Inflammation of the periosteum Splenomegaly MedGen UID: 52469 • Concept ID: C0038002 • Finding Abnormal enlargement of the spleen.[ncbi.nlm.nih.gov]
  • Splenomegaly. Good response to steroids. High rate of self-resolution during adulthood. Amyloidosis is rare.[printo.it]
Respiratory Distress
  • distress ; Splenomegaly ; Stomatitis Associated Genes IL1RN (Withdrawn symbols: ICIL-1RA, IL-1RN, IL1F3, IL1RA, IRAP, MGC10430 ) Mouse Orthologs Il1rn (Withdrawn symbols: F630041P17Rik ) Source OMIM:612852 (names, synonyms, disease associated genes)[mousephenotype.org]
  • Respiratory distress MedGen UID: 96907 • Concept ID: C0476273 • Sign or Symptom A pathological increase in the effort and frequency of breathing movements.[ncbi.nlm.nih.gov]
  • Non-infectious conjunctivitis may be caused by DIRA. [15] [16] Cardiopulmonary: Some with respiratory distress.[autoinflammatory-search.org]
Hepatomegaly
  • Splenomegaly Abnormality of the digestive system Hepatomegaly Splenomegaly Abnormality of the immune system Osteomyelitis Splenomegaly ... ...[familydiagnosis.com]
  • Classification bone, developmental, genetic, immunological, rheumatological of childhood, skin, systemic and rheumatological Phenotypes Arthralgia ; Autosomal recessive inheritance ; Epidermal acanthosis ; Fetal distress ; Fused cervical vertebrae ; Hepatomegaly[mousephenotype.org]
  • Hepatomegaly MedGen UID: 42428 • Concept ID: C0019209 • Finding Abnormal enlargement of the liver.[ncbi.nlm.nih.gov]
  • Hepatomegaly, splenomegaly or hepatosplenomegaly is common. Risk of organ failure if DIRA is untreated. [16] Lymphatic: Splenomegaly is common. [16] Joints bones muscles cartilage: Joint swelling and severe bone pain.[autoinflammatory-search.org]
Pustular Rash
  • It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.[ncbi.nlm.nih.gov]
  • It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. [from NCI ] Arthralgia MedGen UID: 13917 • Concept ID: C0003862 • Sign or Symptom Joint pain.[ncbi.nlm.nih.gov]
  • Untreated DIRA can lead to death in infancy or early childhood. [16] Age of onset: Most have symptoms at birth, or as a neonate, such as: pustular rash, bone pain, swollen joints, and apthous ulcers. [16] Skin cutaneous: Epidermal neutrophilic pustules[autoinflammatory-search.org]
  • Neonate With Pustular Rash - Annals of Emergency Medicine ; Neonatal methicillin-resistant staphylococcal (MRSA) pustulosis. Neonates are frequently brought to the ED for the evaluation of rashes.[ykdsaznl.tk]
Hyperkeratosis
  • […] bone, developmental, genetic, immunological, rheumatological of childhood, skin, systemic and rheumatological Phenotypes Arthralgia ; Autosomal recessive inheritance ; Epidermal acanthosis ; Fetal distress ; Fused cervical vertebrae ; Hepatomegaly ; Hyperkeratosis[mousephenotype.org]
  • Hyperkeratosis MedGen UID: 209030 • Concept ID: C0870082 • Disease or Syndrome Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are[ncbi.nlm.nih.gov]
  • Aphthous ulcers, stomatitis, pathergy, hyperkeratosis, acanthosis; high neutrophil infiltrate of the dermis. [16] [26] Neurologic: High fevers are NOT common, or noted in the neonatal period. Neurological complications are not common.[autoinflammatory-search.org]
Bone Pain
  • It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.[ncbi.nlm.nih.gov]
  • Children with the disorder display a constellation of serious and potentially fatal symptoms that include swelling of bone tissue; bone pain and deformity; inflammation of the periosteum (a layer of connective tissue around bone); and a rash that can[ipfs.io]
  • Risk of organ failure if DIRA is untreated. [16] Lymphatic: Splenomegaly is common. [16] Joints bones muscles cartilage: Joint swelling and severe bone pain. Bone biopsies show no infection.[autoinflammatory-search.org]
  • It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. [from NCI ] Arthralgia MedGen UID: 13917 • Concept ID: C0003862 • Sign or Symptom Joint pain.[ncbi.nlm.nih.gov]
  • Children with the disorder display a constellation of serious and potentially fatal symptoms that include swelling of bone tissue; bone pain and deformity; inflammation of the periosteum ( a layer of connective tissue around bone ); and a rash that can[eng.ichacha.net]
Joint Swelling
  • Symptoms of Osteomyelitis, sterile multifocal, with periostitis and pustulosis Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Stomatitis Abnormality of metabolism/homeostasis Joint swelling Abnormality of[familydiagnosis.com]
  • […] rheumatological of childhood, skin, systemic and rheumatological Phenotypes Arthralgia ; Autosomal recessive inheritance ; Epidermal acanthosis ; Fetal distress ; Fused cervical vertebrae ; Hepatomegaly ; Hyperkeratosis ; Interstitial pulmonary abnormality ; Joint[mousephenotype.org]
  • Joint swelling MedGen UID: 56258 • Concept ID: C0152031 • Finding The presence of swelling in a joint.[ncbi.nlm.nih.gov]
  • Risk of organ failure if DIRA is untreated. [16] Lymphatic: Splenomegaly is common. [16] Joints bones muscles cartilage: Joint swelling and severe bone pain. Bone biopsies show no infection.[autoinflammatory-search.org]
Osteoporosis
  • المحتويات Chapter 18 The Spectrum of Pediatric Osteoporosis 439 Chapter 19 Osteogenesis Imperfecta 511 Chapter 20 Sclerosing Bone Dysplasias 541 Chapter 21 Parathyroid Disorders 557 Chapter 22 Fibrous Dysplasia 589 Chapter 23 Nutritional Rickets 625 Chapter[books.google.com]
Withdrawn
  • […] distress ; Fused cervical vertebrae ; Hepatomegaly ; Hyperkeratosis ; Interstitial pulmonary abnormality ; Joint swelling ; Osteolysis ; Osteomyelitis ; Periostitis ; Pustule ; Respiratory distress ; Splenomegaly ; Stomatitis Associated Genes IL1RN (Withdrawn[mousephenotype.org]

Workup

Enlargement of the Spleen
  • Periostitis MedGen UID: 45816 • Concept ID: C0031111 • Disease or Syndrome Inflammation of the periosteum Splenomegaly MedGen UID: 52469 • Concept ID: C0038002 • Finding Abnormal enlargement of the spleen.[ncbi.nlm.nih.gov]
Enlargement of the Liver
  • Hepatomegaly MedGen UID: 42428 • Concept ID: C0019209 • Finding Abnormal enlargement of the liver.[ncbi.nlm.nih.gov]
Candida
  • Six new cases have been added to this edition: DOCK8 deficiency, activated PI3K delta syndrome, increased susceptibility to candida infections, LRBA deficiency, T cell signaling defects, and channelopathies.[books.google.com]
  • It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. [ read more ] 21350122 IL17RD causing HH18 615267 The disease is caused by mutations[nectarmutation.org]

Treatment

  • See also the following treatment articles: Treatments for Osteomyelitis Causes See also causal information: Causes of Osteomyelitis Causes of Periostitis Similar Topic Articles Osteomyelitis Periostitis Pustulosis Names and Terminology References Source[familydiagnosis.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • […] photographs of normal and abnormal skin conditions including images of rare conditions, this easily accessible resource is essential for pediatricians, neonatologists, and dermatologists as well as other healthcare professionals involved in the diagnosis and treatment[books.google.com]
  • Most patients with DIRA respond well to anakinra, the same drug previously mentioned for NOMID treatment, a synthetic form of human IL-1Ra.[ipfs.io]

Prognosis

  • PMID: 22431714 Free PMC Article Prognosis Posso-De Los Rios CJ, Pope E J Am Acad Dermatol 2014 Apr;70(4):767-773. Epub 2013 Dec 31 doi: 10.1016/j.jaad.2013.11.005.[ncbi.nlm.nih.gov]
  • It is a poorly understood entity, whose prognosis, etiology and ideal treatment are still controversial. The authors report a case of unifocal presentation with an atypical location.[jocr.co.in]

Etiology

  • Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.[ncbi.nlm.nih.gov]
  • It is a poorly understood entity, whose prognosis, etiology and ideal treatment are still controversial. The authors report a case of unifocal presentation with an atypical location.[jocr.co.in]
  • Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis ... ; Dear Editor, Referring to synovitis, acne, pustulosis, hyperostosis and osteitis; SAPHO syndrome is defined as a chronic, relapsing rheumatologic disease of uncertain etiology characterized[ykdsaznl.tk]
  • A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees.[nectarmutation.org]
  • Osteomyelitis of the Jaws: Definition and Classification (Figure 2.2) ) Acute Osteomyelitis (AO) Secondary Chronic Osteomyelitis (SCO) Primary Chronic Osteomyelitis (PCO) Further subclassification of these major osteomyelitis groups is based on presumed etiology[pathologyoutlines.com]

Epidemiology

  • […] deficiency - DIRA - Interleukin-1 receptor antagonist deficiency - OMPP Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare skin disease - Rare systemic or rheumatologic disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
  • (PMID: 20188863) Taype CA … Shaw MA (Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2010) 3 22 45 60 Combined polymorphism analysis of glutathione S-transferase M1/G1 and interleukin[genecards.org]
  • This is reflected in the low yield of diagnostic tests; consequently, the diagnosis of tuberculosis is often based upon a positive skin test, epidemiological information, and compatible clinical and radiographic presentation.[scienceopen.com]
Sex distribution
Age distribution

Pathophysiology

  • […] tertiary criteria help determine the necessary therapeutic strategies which may differ somewhat among the subgroups Sites Mainly affects the anterior chest wall, sacroiliac joints, vertebrae When involves the jaws, predominantly involves the mandible Pathophysiology[pathologyoutlines.com]

Prevention

  • Target SwissProt ID Link P18510 Gene Aliases IL1RN, IL1F3, IL1RA Function Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling.[angolife.com]
  • M.D.C MDC Category Not Assigned For This ICD Code M86.34 Medicare Severity-Diagnosis Related Groups MS-DRG MS-DRG Category Not Assigned For This ICD Code M86.34 Clinical Classifications Software CCS CCS Category Not Assigned For This ICD Code M86.34 Prevention[medicbind.com]
  • [provided by RefSeq, Jul 2008] uniprot summary : Function: Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity.[labome.com]
  • [provided by RefSeq, Jul 2008] UniProt Comments for IL-1 receptor Function: Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling.[mybiosource.com]
  • Awareness about this disease and its variants is paramount to prevent unnecessary repeated biopsies and antibiotic regimens.[jocr.co.in]

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