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Erythema nodosum

MedGen UID:
41858
Concept ID:
C0014743
Disease or Syndrome
Synonym: Erythema Nodosum
SNOMED CT: EN - Erythema nodosum (32861005); Erythema nodosum (32861005)
 
HPO: HP:0012219
Monarch Initiative: MONDO:0850231

Definition

An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVErythema nodosum

Conditions with this feature

Behcet disease
MedGen UID:
2568
Concept ID:
C0004943
Disease or Syndrome
Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects small blood vessels in the mouth, genitals, skin, and eyes.\n\nPainful mouth sores called aphthous ulcers are usually the first sign of Behçet disease. These sores can occur on the lips, tongue, inside the cheeks, the roof of the mouth, the throat, and the tonsils. The ulcers look like common canker sores, and they typically heal within one to two weeks. About 75 percent of all people with Behçet disease develop similar ulcers on the genitals. These ulcers occur most frequently on the scrotum in men and on the labia in women.\n\nBehçet disease can also cause painful bumps and sores on the skin. Most affected individuals develop pus-filled bumps that resemble acne. These bumps can occur anywhere on the body. Some affected people also have red, tender nodules called erythema nodosum. These nodules usually develop on the legs but can also occur on the arms, face, and neck.\n\nAn inflammation of the eye called uveitis is found in more than half of people with Behçet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behçet disease can lead to blindness.\n\nJoint involvement is also common in Behçet disease. Often this affects one joint at a time, with each affected joint becoming swollen and painful and then getting better.\n\nLess commonly, Behçet disease can affect the brain and spinal cord (central nervous system), gastrointestinal tract, large blood vessels, heart, lungs, and kidneys. Central nervous system abnormalities can lead to headaches, confusion, personality changes, memory loss, impaired speech, and problems with balance and movement. Involvement of the gastrointestinal tract can lead to a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be life-threatening.\n\nThe signs and symptoms of Behçet disease usually begin in a person's twenties or thirties, although they can appear at any age. Some affected people have relatively mild symptoms that are limited to sores in the mouth and on the genitals. Others have more severe symptoms affecting various parts of the body, including the eyes and the vital organs. The features of Behçet disease typically come and go over a period of months or years. In most affected individuals, the health problems associated with this disorder improve with age.
Reynolds syndrome
MedGen UID:
450547
Concept ID:
C0748397
Disease or Syndrome
An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive.
X-linked lymphoproliferative disease due to XIAP deficiency
MedGen UID:
336848
Concept ID:
C1845076
Disease or Syndrome
X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.
Erythema nodosum, familial
MedGen UID:
377045
Concept ID:
C1851503
Disease or Syndrome
Familial cold autoinflammatory syndrome 2
MedGen UID:
435869
Concept ID:
C2673198
Disease or Syndrome
Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. In most patients, these episodes are accompanied by fever and serologic evidence of inflammation. Most, but not all, patients report exposure to cold as a trigger for the episodes. Additional features may include abdominal pain, thoracic pain, and sensorineural deafness. The age at onset is variable, ranging from the first year of life to middle age, and the severity and clinical manifestations are heterogeneous (summary by Shen et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of familial cold autoinflammatory syndrome, see FCAS1 (120100).
Sarcoidosis, susceptibility to, 2
MedGen UID:
436694
Concept ID:
C2676468
Finding
Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.
Combined immunodeficiency due to LRBA deficiency
MedGen UID:
766426
Concept ID:
C3553512
Disease or Syndrome
Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Agammaglobulinemia 7, autosomal recessive
MedGen UID:
767603
Concept ID:
C3554689
Disease or Syndrome
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.
Vasculitis due to ADA2 deficiency
MedGen UID:
854497
Concept ID:
C3887654
Disease or Syndrome
Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2.
Proteasome-associated autoinflammatory syndrome 1
MedGen UID:
1648310
Concept ID:
C4746851
Disease or Syndrome
Proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is an autosomal recessive disorder characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22; and PRAAS6 (620796), caused by mutation in the PSMB9 gene (177045) on chromosome 6p21.
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).

Professional guidelines

PubMed

Rogler G, Singh A, Kavanaugh A, Rubin DT
Gastroenterology 2021 Oct;161(4):1118-1132. Epub 2021 Aug 3 doi: 10.1053/j.gastro.2021.07.042. PMID: 34358489Free PMC Article
Mungroo MR, Khan NA, Siddiqui R
Microb Pathog 2020 Dec;149:104475. Epub 2020 Sep 12 doi: 10.1016/j.micpath.2020.104475. PMID: 32931893
Wilkins T, Jarvis K, Patel J
Am Fam Physician 2011 Dec 15;84(12):1365-75. PMID: 22230271

Recent clinical studies

Etiology

Rogler G, Singh A, Kavanaugh A, Rubin DT
Gastroenterology 2021 Oct;161(4):1118-1132. Epub 2021 Aug 3 doi: 10.1053/j.gastro.2021.07.042. PMID: 34358489Free PMC Article
Pérez-Garza DM, Chavez-Alvarez S, Ocampo-Candiani J, Gomez-Flores M
Am J Clin Dermatol 2021 May;22(3):367-378. Epub 2021 Mar 8 doi: 10.1007/s40257-021-00592-w. PMID: 33683567Free PMC Article
Greuter T, Vavricka SR
Expert Rev Gastroenterol Hepatol 2019 Apr;13(4):307-317. Epub 2019 Feb 20 doi: 10.1080/17474124.2019.1574569. PMID: 30791773
Leung AKC, Leong KF, Lam JM
World J Pediatr 2018 Dec;14(6):548-554. Epub 2018 Sep 29 doi: 10.1007/s12519-018-0191-1. PMID: 30269303
Acosta KA, Haver MC, Kelly B
Am J Clin Dermatol 2013 Jun;14(3):215-22. doi: 10.1007/s40257-013-0024-x. PMID: 23625180

Diagnosis

Pérez-Garza DM, Chavez-Alvarez S, Ocampo-Candiani J, Gomez-Flores M
Am J Clin Dermatol 2021 May;22(3):367-378. Epub 2021 Mar 8 doi: 10.1007/s40257-021-00592-w. PMID: 33683567Free PMC Article
Woldemichael B, Molla M, Aronowitz P
J Gen Intern Med 2021 May;36(5):1429-1430. Epub 2021 Jan 29 doi: 10.1007/s11606-021-06620-z. PMID: 33515194Free PMC Article
Castro MDC, Pereira CAC
Semin Respir Crit Care Med 2020 Oct;41(5):733-740. Epub 2020 Aug 10 doi: 10.1055/s-0040-1710371. PMID: 32777854
Leung AKC, Leong KF, Lam JM
World J Pediatr 2018 Dec;14(6):548-554. Epub 2018 Sep 29 doi: 10.1007/s12519-018-0191-1. PMID: 30269303
Passarini B, Infusino SD
G Ital Dermatol Venereol 2013 Aug;148(4):413-7. PMID: 23900162

Therapy

Pérez-Garza DM, Chavez-Alvarez S, Ocampo-Candiani J, Gomez-Flores M
Am J Clin Dermatol 2021 May;22(3):367-378. Epub 2021 Mar 8 doi: 10.1007/s40257-021-00592-w. PMID: 33683567Free PMC Article
Leung AKC, Leong KF, Lam JM
World J Pediatr 2018 Dec;14(6):548-554. Epub 2018 Sep 29 doi: 10.1007/s12519-018-0191-1. PMID: 30269303
Wanat KA, Rosenbach M
Clin Chest Med 2015 Dec;36(4):685-702. Epub 2015 Sep 26 doi: 10.1016/j.ccm.2015.08.010. PMID: 26593142
Passarini B, Infusino SD
G Ital Dermatol Venereol 2013 Aug;148(4):413-7. PMID: 23900162
Requena L, Yus ES
Dermatol Clin 2008 Oct;26(4):425-38, v. doi: 10.1016/j.det.2008.05.014. PMID: 18793974

Prognosis

Rogler G, Singh A, Kavanaugh A, Rubin DT
Gastroenterology 2021 Oct;161(4):1118-1132. Epub 2021 Aug 3 doi: 10.1053/j.gastro.2021.07.042. PMID: 34358489Free PMC Article
Pérez-Garza DM, Chavez-Alvarez S, Ocampo-Candiani J, Gomez-Flores M
Am J Clin Dermatol 2021 May;22(3):367-378. Epub 2021 Mar 8 doi: 10.1007/s40257-021-00592-w. PMID: 33683567Free PMC Article
Caplan A, Rosenbach M, Imadojemu S
Semin Respir Crit Care Med 2020 Oct;41(5):689-699. Epub 2020 Jun 27 doi: 10.1055/s-0040-1713130. PMID: 32593176
Greuter T, Vavricka SR
Expert Rev Gastroenterol Hepatol 2019 Apr;13(4):307-317. Epub 2019 Feb 20 doi: 10.1080/17474124.2019.1574569. PMID: 30791773
Vavricka SR, Schoepfer A, Scharl M, Lakatos PL, Navarini A, Rogler G
Inflamm Bowel Dis 2015 Aug;21(8):1982-92. doi: 10.1097/MIB.0000000000000392. PMID: 26154136Free PMC Article

Clinical prediction guides

Rogler G, Singh A, Kavanaugh A, Rubin DT
Gastroenterology 2021 Oct;161(4):1118-1132. Epub 2021 Aug 3 doi: 10.1053/j.gastro.2021.07.042. PMID: 34358489Free PMC Article
Greuter T, Vavricka SR
Expert Rev Gastroenterol Hepatol 2019 Apr;13(4):307-317. Epub 2019 Feb 20 doi: 10.1080/17474124.2019.1574569. PMID: 30791773
Bajocchi G, Cavazza A
Reumatismo 2018 Oct 3;70(3):155-164. doi: 10.4081/reumatismo.2018.1096. PMID: 30282441
Borroni G, Torti S, D'Ospina RM, Pezzini C
G Ital Dermatol Venereol 2014 Apr;149(2):263-70. PMID: 24819647
Wollina U, Haroske G
Curr Opin Rheumatol 2011 Jan;23(1):50-6. doi: 10.1097/BOR.0b013e328341152f. PMID: 21037478

Recent systematic reviews

Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R
Arthritis Rheumatol 2022 May;74(5):735-751. Epub 2022 Mar 21 doi: 10.1002/art.42087. PMID: 35315249
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R
Ann Rheum Dis 2022 May;81(5):601-613. Epub 2022 Jan 27 doi: 10.1136/annrheumdis-2021-221814. PMID: 35086813Free PMC Article
Van Veen NH, Lockwood DN, Van Brakel WH, Ramirez J Jr, Richardus JH
Lepr Rev 2009 Dec;80(4):355-72. PMID: 20306635
Van Veen NH, Lockwood DN, van Brakel WH, Ramirez J Jr, Richardus JH
Cochrane Database Syst Rev 2009 Jul 8;(3):CD006949. doi: 10.1002/14651858.CD006949.pub2. PMID: 19588412
Saenz A, Ausejo M, Shea B, Wells G, Welch V, Tugwell P
Cochrane Database Syst Rev 2000;1998(2):CD001084. doi: 10.1002/14651858.CD001084. PMID: 10796413Free PMC Article

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