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Cervical lymphadenopathy

MedGen UID:
66724
Concept ID:
C0235592
Disease or Syndrome
Synonyms: Cervical Lymphadenopathy; Swollen lymph nodes in the neck
SNOMED CT: Cervical lymphadenopathy (127086001)
 
HPO: HP:0025289

Definition

Enlarged lymph nodes in the neck. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Cervical lymphadenopathy

Conditions with this feature

TNF receptor-associated periodic fever syndrome (TRAPS)
MedGen UID:
226899
Concept ID:
C1275126
Disease or Syndrome
Familial periodic fever (FPF) is an autoinflammatory disorder characterized by recurrent fever with localized myalgia and painful erythema. Febrile attacks may last 1 or 2 days but often last longer than 1 week. Arthralgia of large joints, abdominal pain, conjunctivitis, and periorbital edema are common features. During attacks, painless cutaneous lesions may develop on the trunk or extremities and may migrate distally (review by Drenth and van der Meer, 2001).
Heme oxygenase 1 deficiency
MedGen UID:
333882
Concept ID:
C1841651
Disease or Syndrome
Heme oxygenase-1 deficiency (HMOX1D) is a rare autosomal recessive disorder with a complex clinical presentation including direct antibody negative hemolytic anemia, low bilirubin, and hyperinflammation (summary by Chau et al., 2020). Other features may include asplenia and nephritis (Radhakrishnan et al., 2011).
H syndrome
MedGen UID:
400532
Concept ID:
C1864445
Disease or Syndrome
The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC was described as an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
MedGen UID:
1618052
Concept ID:
C4540232
Disease or Syndrome
Immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia (IMD71) is an autosomal recessive immunologic disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood. Infectious agents include bacteria and viruses. Laboratory findings are variable, but usually show thrombocytopenia, sometimes with abnormal platelet morphology, increased serum IgE, IgA, or IgM, leukocytosis, decreased or increased T lymphocytes, and increased eosinophils. Detailed studies show impaired neutrophil and T-cell chemotaxis, as well as impaired T-cell activation due to defects in F-actin (see 102610) polymerization (summary by Brigida et al., 2018).
Immunodeficiency 64
MedGen UID:
1684716
Concept ID:
C5231402
Disease or Syndrome
Immunodeficiency-64 with lymphoproliferation (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by Salzer et al., 2016, Mao et al., 2018, and Winter et al., 2018).
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
MedGen UID:
1734177
Concept ID:
C5436550
Disease or Syndrome
Immunodeficiency 87 and autoimmunity
MedGen UID:
1794280
Concept ID:
C5562070
Disease or Syndrome
Immunodeficiency-87 and autoimmunity (IMD87) is an autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation (summary by Serwas et al., 2019 and Fournier et al., 2021).

Professional guidelines

PubMed

Kobaly K, Kim CS, Mandel SJ
Annu Rev Med 2022 Jan 27;73:517-528. Epub 2021 Aug 20 doi: 10.1146/annurev-med-042220-015032. PMID: 34416120
Dunay IR, Gajurel K, Dhakal R, Liesenfeld O, Montoya JG
Clin Microbiol Rev 2018 Oct;31(4) Epub 2018 Sep 12 doi: 10.1128/CMR.00057-17. PMID: 30209035Free PMC Article
Saguil A, Fargo M, Grogan S
Am Fam Physician 2015 Mar 15;91(6):365-71. PMID: 25822554

Recent clinical studies

Etiology

Sylvester JE, Buchanan BK, Silva TW
Am Fam Physician 2023 Jan;107(1):71-78. PMID: 36689975
Kobaly K, Kim CS, Mandel SJ
Annu Rev Med 2022 Jan 27;73:517-528. Epub 2021 Aug 20 doi: 10.1146/annurev-med-042220-015032. PMID: 34416120
Şen HS, Ocak S, Yılmazbaş P
Turk J Pediatr 2021;63(3):363-371. doi: 10.24953/turkjped.2021.03.003. PMID: 34254481
Penn EB Jr, Goudy SL
Otolaryngol Clin North Am 2015 Feb;48(1):137-51. doi: 10.1016/j.otc.2014.09.010. PMID: 25439552
Rosenberg TL, Nolder AR
Otolaryngol Clin North Am 2014 Oct;47(5):721-31. Epub 2014 Jul 30 doi: 10.1016/j.otc.2014.06.012. PMID: 25213279

Diagnosis

Vaughn JA
Neuroimaging Clin N Am 2023 Nov;33(4):581-590. Epub 2023 Jul 19 doi: 10.1016/j.nic.2023.05.008. PMID: 37741659
Weinstock MS, Patel NA, Smith LP
Pediatr Rev 2018 Sep;39(9):433-443. doi: 10.1542/pir.2017-0249. PMID: 30171054
Alam H, Saeed MO, Saeed AB, Zaidi A
J Pak Med Assoc 2015 Dec;65(12):1349-50. PMID: 26627522
Penn EB Jr, Goudy SL
Otolaryngol Clin North Am 2015 Feb;48(1):137-51. doi: 10.1016/j.otc.2014.09.010. PMID: 25439552
Rosenberg TL, Nolder AR
Otolaryngol Clin North Am 2014 Oct;47(5):721-31. Epub 2014 Jul 30 doi: 10.1016/j.otc.2014.06.012. PMID: 25213279

Therapy

Wang H, Shimizu C, Bainto E, Hamilton S, Jackson HR, Estrada-Rivadeneyra D, Kaforou M, Levin M, Pancheri JM, Dummer KB, Tremoulet AH, Burns JC
Lancet Child Adolesc Health 2023 Oct;7(10):697-707. Epub 2023 Aug 17 doi: 10.1016/S2352-4642(23)00166-9. PMID: 37598693Free PMC Article
Dunay IR, Gajurel K, Dhakal R, Liesenfeld O, Montoya JG
Clin Microbiol Rev 2018 Oct;31(4) Epub 2018 Sep 12 doi: 10.1128/CMR.00057-17. PMID: 30209035Free PMC Article
Tlougan BE, Podjasek JO, Patel SP, Nguyen XH, Hansen RC
Pediatr Dermatol 2009 Sep-Oct;26(5):563-5. doi: 10.1111/j.1525-1470.2009.00986.x. PMID: 19840311
Kim DS
Yonsei Med J 2006 Dec 31;47(6):759-72. doi: 10.3349/ymj.2006.47.6.759. PMID: 17191303Free PMC Article
Newburger JW, Takahashi M, Gerber MA, Gewitz MH, Tani LY, Burns JC, Shulman ST, Bolger AF, Ferrieri P, Baltimore RS, Wilson WR, Baddour LM, Levison ME, Pallasch TJ, Falace DA, Taubert KA; Committee on Rheumatic Fever, Endocarditis and Kawasaki Disease; Council on Cardiovascular Disease in the Young; American Heart Association; American Academy of Pediatrics
Circulation 2004 Oct 26;110(17):2747-71. doi: 10.1161/01.CIR.0000145143.19711.78. PMID: 15505111

Prognosis

Şen HS, Ocak S, Yılmazbaş P
Turk J Pediatr 2021;63(3):363-371. doi: 10.24953/turkjped.2021.03.003. PMID: 34254481
Foo EC, Tanti M, Cliffe H, Randall M
Pract Neurol 2021 Oct;21(5):442-444. Epub 2021 May 7 doi: 10.1136/practneurol-2021-002928. PMID: 33963085
Penn EB Jr, Goudy SL
Otolaryngol Clin North Am 2015 Feb;48(1):137-51. doi: 10.1016/j.otc.2014.09.010. PMID: 25439552
Rosenberg TL, Nolder AR
Otolaryngol Clin North Am 2014 Oct;47(5):721-31. Epub 2014 Jul 30 doi: 10.1016/j.otc.2014.06.012. PMID: 25213279
Kim DS
Yonsei Med J 2006 Dec 31;47(6):759-72. doi: 10.3349/ymj.2006.47.6.759. PMID: 17191303Free PMC Article

Clinical prediction guides

Wang H, Shimizu C, Bainto E, Hamilton S, Jackson HR, Estrada-Rivadeneyra D, Kaforou M, Levin M, Pancheri JM, Dummer KB, Tremoulet AH, Burns JC
Lancet Child Adolesc Health 2023 Oct;7(10):697-707. Epub 2023 Aug 17 doi: 10.1016/S2352-4642(23)00166-9. PMID: 37598693Free PMC Article
Kobaly K, Kim CS, Mandel SJ
Annu Rev Med 2022 Jan 27;73:517-528. Epub 2021 Aug 20 doi: 10.1146/annurev-med-042220-015032. PMID: 34416120
Şen HS, Ocak S, Yılmazbaş P
Turk J Pediatr 2021;63(3):363-371. doi: 10.24953/turkjped.2021.03.003. PMID: 34254481
Newburger JW
Congenit Heart Dis 2017 Sep;12(5):633-635. Epub 2017 Jun 5 doi: 10.1111/chd.12498. PMID: 28580712
Pepe F, Disma S, Teodoro C, Pepe P, Magro G
Pathologica 2016 Sep;108(3):120-129. PMID: 28195263

Recent systematic reviews

Thompson JA, Bertoni D, Decuzzi J, Isaiah A, Pereira KD
Int J Pediatr Otorhinolaryngol 2023 Mar;166:111485. Epub 2023 Feb 10 doi: 10.1016/j.ijporl.2023.111485. PMID: 36812785
Qian X, Albers AE, Nguyen DTM, Dong Y, Zhang Y, Schreiber F, Sinikovic B, Bi X, Graviss EA
Tuberculosis (Edinb) 2019 May;116S:S78-S88. Epub 2019 May 3 doi: 10.1016/j.tube.2019.04.014. PMID: 31080090
Bartlett A, Williams R, Hilton M
Injury 2016 Mar;47(3):531-8. Epub 2015 Oct 31 doi: 10.1016/j.injury.2015.10.071. PMID: 26563483
Chiappini E, Camaioni A, Benazzo M, Biondi A, Bottero S, De Masi S, Di Mauro G, Doria M, Esposito S, Felisati G, Felisati D, Festini F, Gaini RM, Galli L, Gambini C, Gianelli U, Landi M, Lucioni M, Mansi N, Mazzantini R, Marchisio P, Marseglia GL, Miniello VL, Nicola M, Novelli A, Paulli M, Picca M, Pillon M, Pisani P, Pipolo C, Principi N, Sardi I, Succo G, Tomà P, Tortoli E, Tucci F, Varricchio A, de Martino M, Italian Guideline Panel For Management Of Cervical Lymphadenopathy In Children
Expert Rev Anti Infect Ther 2015;13(12):1557-67. Epub 2015 Nov 11 doi: 10.1586/14787210.2015.1096777. PMID: 26558951
Locke R, Comfort R, Kubba H
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):393-401. Epub 2013 Dec 18 doi: 10.1016/j.ijporl.2013.12.011. PMID: 24447684

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