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Episcleritis

MedGen UID:
4994
Concept ID:
C0014583
Disease or Syndrome
Synonym: Episcleritides
SNOMED CT: Episcleritis (815008)
 
HPO: HP:0100534

Definition

Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpiscleritis

Conditions with this feature

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 described 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).
Granulomatosis with polyangiitis
MedGen UID:
811223
Concept ID:
C3495801
Disease or Syndrome
Granulomatosis with polyangiitis, formerly termed Wegener granulomatosis, is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera. These ANCAs are antibodies to a defined target antigen, proteinase-3 (PR3, PRTN3; 177020), which is present within primary azurophil granules of neutrophils (PMNs) and lysozymes of monocytes. On cytokine priming of PMNs, PR3 translocates to the cell surface, where PR3-ANCAs can interact with their antigens and activate PMNs. PMNs from patients with active GPA express PR3 on their surface, produce respiratory burst, and release proteolytic enzymes after activation with PR3-ANCAs. The consequence is a self-sustaining inflammatory process (Jagiello et al., 2004).
Proteasome-associated autoinflammatory syndrome 1
MedGen UID:
1648310
Concept ID:
C4746851
Disease or Syndrome
This autosomal recessive systemic autoinflammatory disorder is 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; and PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22.

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
Daniel Diaz J, Sobol EK, Gritz DC
Surv Ophthalmol 2016 Nov-Dec;61(6):702-717. Epub 2016 Jun 16 doi: 10.1016/j.survophthal.2016.06.002. PMID: 27318032
Yoo JH, Chodosh J, Dana R
Semin Ophthalmol 2011 Jul-Sep;26(4-5):261-9. doi: 10.3109/08820538.2011.588653. PMID: 21958172

Recent clinical studies

Etiology

Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
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
Dammacco R
Clin Exp Med 2018 May;18(2):135-149. Epub 2017 Dec 14 doi: 10.1007/s10238-017-0479-9. PMID: 29243035
Martínez-Pulgarín DF, Chowdhury FR, Villamil-Gomez WE, Rodriguez-Morales AJ, Blohm GM, Paniz-Mondolfi AE
Travel Med Infect Dis 2016 Sep-Oct;14(5):451-457. Epub 2016 May 26 doi: 10.1016/j.tmaid.2016.05.008. PMID: 27238905

Diagnosis

Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
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
Agarwal M, Dutta Majumder P, Babu K, Konana VK, Goyal M, Touhami S, Stanescu-Segall D, Bodaghi B
Indian J Ophthalmol 2020 Sep;68(9):1799-1807. doi: 10.4103/ijo.IJO_816_20. PMID: 32823396Free PMC Article
Dammacco R
Clin Exp Med 2018 May;18(2):135-149. Epub 2017 Dec 14 doi: 10.1007/s10238-017-0479-9. PMID: 29243035
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

Therapy

Corbitt K, Nowatzky J
Curr Opin Rheumatol 2023 May 1;35(3):201-212. Epub 2023 Mar 20 doi: 10.1097/BOR.0000000000000933. PMID: 36943695Free PMC Article
Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
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
White GE
Optom Clin 1991;1(4):79-87. PMID: 1799838

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
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
Daniel Diaz J, Sobol EK, Gritz DC
Surv Ophthalmol 2016 Nov-Dec;61(6):702-717. Epub 2016 Jun 16 doi: 10.1016/j.survophthal.2016.06.002. PMID: 27318032
Martínez-Pulgarín DF, Chowdhury FR, Villamil-Gomez WE, Rodriguez-Morales AJ, Blohm GM, Paniz-Mondolfi AE
Travel Med Infect Dis 2016 Sep-Oct;14(5):451-457. Epub 2016 May 26 doi: 10.1016/j.tmaid.2016.05.008. PMID: 27238905
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

Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
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
Magan T, Rapuano CJ, Ayres BD, Skeens HM, Goyal V, Heersink S, Meghpara BB, Syed ZA, Eagle RC Jr, Milman T
Am J Ophthalmol 2021 Sep;229:120-126. Epub 2021 Apr 22 doi: 10.1016/j.ajo.2021.04.006. PMID: 33895150
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
Read RW, Weiss AH, Sherry DD
Ophthalmology 1999 Dec;106(12):2377-9. doi: 10.1016/S0161-6420(99)90520-1. PMID: 10599674

Recent systematic reviews

Moin KA, Yeakle MM, Parrill AM, Garofalo VA, Tsiyer AR, Bishev D, Gala D, Fogel J, Hatsis AJ, Wickas TD, Anand P, Morcos M
Rom J Ophthalmol 2023 Jul-Sep;67(3):214-221. doi: 10.22336/rjo.2023.38. PMID: 37876507Free PMC Article
Li JX, Chiang CC, Chen SN, Lin JM, Tsai YY
Int J Environ Res Public Health 2022 Nov 25;19(23) doi: 10.3390/ijerph192315683. PMID: 36497759Free PMC Article
Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Nita M, Grzybowski A
Curr Pharm Des 2017;23(4):639-654. doi: 10.2174/1381612823666170111095723. PMID: 28078992

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