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Joint swelling

MedGen UID:
56258
Concept ID:
C0152031
Finding
Synonym: Swollen joints
SNOMED CT: Observation of joint swelling (271771009); Joint swelling (271771009); Swollen joint (271771009)
 
HPO: HP:0001386

Definition

The presence of swelling in a joint. [from NCI]

Term Hierarchy

Conditions with this feature

Rheumatoid arthritis
MedGen UID:
2078
Concept ID:
C0003873
Disease or Syndrome
Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component.
Popliteal cyst
MedGen UID:
10853
Concept ID:
C0032650
Anatomical Abnormality
A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.
Farber lipogranulomatosis
MedGen UID:
78654
Concept ID:
C0268255
Disease or Syndrome
The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years.
Progressive pseudorheumatoid dysplasia
MedGen UID:
96581
Concept ID:
C0432215
Congenital Abnormality
Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. Over time, involvement of large joints and the spine causes significant joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity. Despite the considerable arthropathy, pain is not a major presenting feature of this condition. Initially height is normal; however, short stature (<3rd centile) becomes evident in adolescence as the skeletal changes progress.
Spondyloenchondrodysplasia with immune dysregulation
MedGen UID:
375009
Concept ID:
C1842763
Disease or Syndrome
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Majeed syndrome
MedGen UID:
351273
Concept ID:
C1864997
Disease or Syndrome
Majeed syndrome (MJDS) is an autosomal recessive pediatric multisystem autoinflammatory disorder characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia; some patients may also develop neutrophilic dermatosis. Additional features may include fever, failure to thrive, and neutropenia. Laboratory studies show elevated inflammatory markers consistent with activation of the proinflammatory IL1 (147760) pathway (summary by Ferguson and El-Shanti, 2021). Genetic Heterogeneity of Chronic Recurrent Multifocal Osteomyelitis See also CRMO2 (612852), caused by mutation in the IL1RN gene (147679) on chromosome 2q14; and CRMO3 (259680), caused by mutation in the IL1R1 gene (147810) on chromosome 2q12.
Sterile multifocal osteomyelitis with periostitis and pustulosis
MedGen UID:
411230
Concept ID:
C2748507
Disease or Syndrome
Chronic recurrent multifocal osteomyelitis-2 with periostitis and pustulosis (CRMO2) is an autosomal recessive multisystemic autoinflammatory disorder characterized by onset of symptoms in early infancy. Affected individuals present with joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress. The disorder progresses in severity to generalized severe pustulosis or ichthyosiform lesions and diffuse bone lesions. Radiographic studies show widening of the anterior rib ends, periosteal elevation along multiple long bones, multifocal osteolytic lesions, heterotopic ossification, and metaphyseal erosions of the long bones. Laboratory studies show elevation of inflammatory markers. The disorder results from unopposed activation of the IL1 inflammatory signaling pathway. Treatment with the interleukin-1 receptor antagonist anakinra may result in clinical improvement (Aksentijevich et al., 2009). For a discussion of genetic heterogeneity of CRMO, see 609628.
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
MedGen UID:
934581
Concept ID:
C4310614
Disease or Syndrome
Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP), leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).
Warburg-cinotti syndrome
MedGen UID:
1677486
Concept ID:
C5193019
Disease or Syndrome
Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis (Xu et al., 2018).
Blau syndrome
MedGen UID:
1684759
Concept ID:
C5201146
Disease or Syndrome
Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).
Immunodeficiency 82 with systemic inflammation
MedGen UID:
1781752
Concept ID:
C5543581
Disease or Syndrome
Immunodeficiency-82 with systemic inflammation (IMD82) is a complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP; 123260), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. Treatment with SYK inhibitors rescued human cell abnormalities and resulted in clinical improvement in mice (Wang et al., 2021).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).

Professional guidelines

PubMed

Qaseem A, Harris RP, Forciea MA; Clinical Guidelines Committee of the American College of Physicians, Denberg TD, Barry MJ, Boyd C, Chow RD, Humphrey LL, Kansagara D, Vijan S, Wilt TJ
Ann Intern Med 2017 Jan 3;166(1):58-68. Epub 2016 Nov 1 doi: 10.7326/M16-0570. PMID: 27802508
Arvikar SL, Steere AC
Infect Dis Clin North Am 2015 Jun;29(2):269-80. doi: 10.1016/j.idc.2015.02.004. PMID: 25999223Free PMC Article
Taruc-Uy RL, Lynch SA
Prim Care 2013 Dec;40(4):821-36, vii. Epub 2013 Sep 26 doi: 10.1016/j.pop.2013.08.003. PMID: 24209720

Recent clinical studies

Etiology

Hochberg MC, Martel-Pelletier J, Monfort J, Möller I, Castillo JR, Arden N, Berenbaum F, Blanco FJ, Conaghan PG, Doménech G, Henrotin Y, Pap T, Richette P, Sawitzke A, du Souich P, Pelletier JP; MOVES Investigation Group
Ann Rheum Dis 2016 Jan;75(1):37-44. Epub 2015 Jan 14 doi: 10.1136/annrheumdis-2014-206792. PMID: 25589511Free PMC Article
Legré-Boyer V
Orthop Traumatol Surg Res 2015 Feb;101(1 Suppl):S101-8. Epub 2015 Jan 14 doi: 10.1016/j.otsr.2014.07.027. PMID: 25596987
Taruc-Uy RL, Lynch SA
Prim Care 2013 Dec;40(4):821-36, vii. Epub 2013 Sep 26 doi: 10.1016/j.pop.2013.08.003. PMID: 24209720
Margaretten ME, Kohlwes J, Moore D, Bent S
JAMA 2007 Apr 4;297(13):1478-88. doi: 10.1001/jama.297.13.1478. PMID: 17405973
Cuende E, Fraguas J, Peña JE, Peña F, García JC, González M
J Rheumatol 1999 Dec;26(12):2684-90. PMID: 10606383

Diagnosis

Coles ML, Weissmann R, Uziel Y
Pediatr Rheumatol Online J 2021 Mar 1;19(1):22. doi: 10.1186/s12969-021-00493-6. PMID: 33648522Free PMC Article
Arvikar SL, Steere AC
Infect Dis Clin North Am 2015 Jun;29(2):269-80. doi: 10.1016/j.idc.2015.02.004. PMID: 25999223Free PMC Article
Taruc-Uy RL, Lynch SA
Prim Care 2013 Dec;40(4):821-36, vii. Epub 2013 Sep 26 doi: 10.1016/j.pop.2013.08.003. PMID: 24209720
Margaretten ME, Kohlwes J, Moore D, Bent S
JAMA 2007 Apr 4;297(13):1478-88. doi: 10.1001/jama.297.13.1478. PMID: 17405973
Grassi W, De Angelis R, Lamanna G, Cervini C
Eur J Radiol 1998 May;27 Suppl 1:S18-24. doi: 10.1016/s0720-048x(98)00038-2. PMID: 9652497

Therapy

Luo T, Zhou X, Qin M, Lin Y, Lin J, Chen G, Liu A, Ouyang D, Chen D, Pan H
Oxid Med Cell Longev 2022;2022:1652244. Epub 2022 Oct 17 doi: 10.1155/2022/1652244. PMID: 36299604Free PMC Article
Lin Y, Luo T, Weng A, Huang X, Yao Y, Fu Z, Li Y, Liu A, Li X, Chen D, Pan H
Front Immunol 2020;11:580593. Epub 2020 Dec 7 doi: 10.3389/fimmu.2020.580593. PMID: 33365024Free PMC Article
Hochberg MC, Martel-Pelletier J, Monfort J, Möller I, Castillo JR, Arden N, Berenbaum F, Blanco FJ, Conaghan PG, Doménech G, Henrotin Y, Pap T, Richette P, Sawitzke A, du Souich P, Pelletier JP; MOVES Investigation Group
Ann Rheum Dis 2016 Jan;75(1):37-44. Epub 2015 Jan 14 doi: 10.1136/annrheumdis-2014-206792. PMID: 25589511Free PMC Article
Arvikar SL, Steere AC
Infect Dis Clin North Am 2015 Jun;29(2):269-80. doi: 10.1016/j.idc.2015.02.004. PMID: 25999223Free PMC Article
Taruc-Uy RL, Lynch SA
Prim Care 2013 Dec;40(4):821-36, vii. Epub 2013 Sep 26 doi: 10.1016/j.pop.2013.08.003. PMID: 24209720

Prognosis

Lv Z, Xu X, Sun Z, Yang YX, Guo H, Li J, Sun K, Wu R, Xu J, Jiang Q, Ikegawa S, Shi D
Cell Death Dis 2021 May 18;12(6):504. doi: 10.1038/s41419-021-03792-8. PMID: 34006826Free PMC Article
Coles ML, Weissmann R, Uziel Y
Pediatr Rheumatol Online J 2021 Mar 1;19(1):22. doi: 10.1186/s12969-021-00493-6. PMID: 33648522Free PMC Article
Maiuolo J, Muscoli C, Gliozzi M, Musolino V, Carresi C, Paone S, Ilari S, Mollace R, Palma E, Mollace V
Biomolecules 2021 Jan 10;11(1) doi: 10.3390/biom11010081. PMID: 33435178Free PMC Article
Hu Y, Yéléhé-Okouma M, Ea HK, Jouzeau JY, Reboul P
Joint Bone Spine 2017 Jan;84(1):15-20. Epub 2016 May 26 doi: 10.1016/j.jbspin.2016.02.029. PMID: 27238188
Grassi W, De Angelis R, Lamanna G, Cervini C
Eur J Radiol 1998 May;27 Suppl 1:S18-24. doi: 10.1016/s0720-048x(98)00038-2. PMID: 9652497

Clinical prediction guides

Kaneguchi A, Ozawa J
Physiol Res 2022 Aug 31;71(4):447-488. Epub 2022 Jun 30 doi: 10.33549/physiolres.934876. PMID: 35770468Free PMC Article
Moretti A, Paoletta M, Liguori S, Ilardi W, Snichelotto F, Toro G, Gimigliano F, Iolascon G
Int J Mol Sci 2021 Mar 7;22(5) doi: 10.3390/ijms22052693. PMID: 33799992Free PMC Article
Qaseem A, Harris RP, Forciea MA; Clinical Guidelines Committee of the American College of Physicians, Denberg TD, Barry MJ, Boyd C, Chow RD, Humphrey LL, Kansagara D, Vijan S, Wilt TJ
Ann Intern Med 2017 Jan 3;166(1):58-68. Epub 2016 Nov 1 doi: 10.7326/M16-0570. PMID: 27802508
Hochberg MC, Martel-Pelletier J, Monfort J, Möller I, Castillo JR, Arden N, Berenbaum F, Blanco FJ, Conaghan PG, Doménech G, Henrotin Y, Pap T, Richette P, Sawitzke A, du Souich P, Pelletier JP; MOVES Investigation Group
Ann Rheum Dis 2016 Jan;75(1):37-44. Epub 2015 Jan 14 doi: 10.1136/annrheumdis-2014-206792. PMID: 25589511Free PMC Article
Cuende E, Fraguas J, Peña JE, Peña F, García JC, González M
J Rheumatol 1999 Dec;26(12):2684-90. PMID: 10606383

Recent systematic reviews

Pourhabibi-Zarandi F, Shojaei-Zarghani S, Rafraf M
Int J Clin Pract 2021 Oct;75(10):e14280. Epub 2021 May 24 doi: 10.1111/ijcp.14280. PMID: 33914984
van Aalst M, Nelen CM, Goorhuis A, Stijnis C, Grobusch MP
Travel Med Infect Dis 2017 Jan-Feb;15:8-22. Epub 2017 Feb 2 doi: 10.1016/j.tmaid.2017.01.004. PMID: 28163198
Sivera F, Wechalekar MD, Andrés M, Buchbinder R, Carmona L
Cochrane Database Syst Rev 2014 Sep 1;(9):CD009993. doi: 10.1002/14651858.CD009993.pub2. PMID: 25177840
Dalbeth N, Zhong CS, Grainger R, Khanna D, Khanna PP, Singh JA, McQueen FM, Taylor WJ
J Rheumatol 2014 Mar;41(3):558-68. Epub 2013 Dec 15 doi: 10.3899/jrheum.131244. PMID: 24334652Free PMC Article
Moi JH, Sriranganathan MK, Edwards CJ, Buchbinder R
Cochrane Database Syst Rev 2013 Nov 4;2013(11):CD010519. doi: 10.1002/14651858.CD010519.pub2. PMID: 24186771Free PMC Article

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