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Granuloma

MedGen UID:
5376
Concept ID:
C0018188
Pathologic Function
Synonym: Granulomas
SNOMED CT: Granuloma (45647009); Histiocytic granuloma (45647009); Epithelioid granuloma (45647009)
 
HPO: HP:0032252

Definition

A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. [from HPO]

Conditions with this feature

Granulomatous disease, chronic, X-linked
MedGen UID:
336165
Concept ID:
C1844376
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
MedGen UID:
814919
Concept ID:
C3808589
Disease or Syndrome
Autosomal dominant IRF8 deficiency, or IMD32A, causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; 151510)-positive/CD1C (188340)-positive dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011).
Granulomatous disease, chronic, autosomal recessive, 5
MedGen UID:
1710326
Concept ID:
C5394542
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Immunodeficiency 97 with autoinflammation
MedGen UID:
1802936
Concept ID:
C5676946
Disease or Syndrome
Immunodeficiency-97 with autoinflammation (IMD97) is an autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH; see FHL1, 267700). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported (summary by Takeda et al., 2019 and Thian et al., 2020).
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
MedGen UID:
1803642
Concept ID:
C5676977
Disease or Syndrome
Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy (Rodero et al., 2017). Treatment with a JAK (see 147795) inhibitor (baricitinib) may be effective (Hong et al., 2020).

Professional guidelines

PubMed

Joshi TP, Duvic M
Am J Clin Dermatol 2022 Jan;23(1):37-50. Epub 2021 Sep 8 doi: 10.1007/s40257-021-00636-1. PMID: 34495491Free PMC Article
Karamifar K, Tondari A, Saghiri MA
Eur Endod J 2020;5(2):54-67. Epub 2020 Jul 14 doi: 10.14744/eej.2020.42714. PMID: 32766513Free PMC Article
Lamb CA, Kennedy NA, Raine T, Hendy PA, Smith PJ, Limdi JK, Hayee B, Lomer MCE, Parkes GC, Selinger C, Barrett KJ, Davies RJ, Bennett C, Gittens S, Dunlop MG, Faiz O, Fraser A, Garrick V, Johnston PD, Parkes M, Sanderson J, Terry H; IBD guidelines eDelphi consensus group, Gaya DR, Iqbal TH, Taylor SA, Smith M, Brookes M, Hansen R, Hawthorne AB
Gut 2019 Dec;68(Suppl 3):s1-s106. Epub 2019 Sep 27 doi: 10.1136/gutjnl-2019-318484. PMID: 31562236Free PMC Article

Recent clinical studies

Etiology

Klapproth H, Huerta Arana M, Fabri M
Int J Mol Sci 2023 Feb 27;24(5) doi: 10.3390/ijms24054624. PMID: 36902053Free PMC Article
Machado RA, Oliveira LQ, Martelli-Júnior H, Pires FR, Carvas JB, Rogerio VE, Rabelo VD, Coletta RD
Med Oral Patol Oral Cir Bucal 2023 May 1;28(3):e278-e284. doi: 10.4317/medoral.25713. PMID: 36565218Free PMC Article
Wick MR
Semin Diagn Pathol 2017 May;34(3):301-311. Epub 2016 Dec 14 doi: 10.1053/j.semdp.2016.12.003. PMID: 28094163
Lin RL, Janniger CK
Cutis 2004 Oct;74(4):229-33. PMID: 15551715
Duncan WK, Post AC, McCoy BP
Oral Surg Oral Med Oral Pathol 1988 Jun;65(6):736-41. doi: 10.1016/0030-4220(88)90020-5. PMID: 3041337

Diagnosis

Komakech D, Ssenkumba B
N Engl J Med 2022 Nov 24;387(21):1979. doi: 10.1056/NEJMicm2204602. PMID: 36416770
Karakurt G, Duger M
Arch Bronconeumol 2022 Dec;58(12):821-822. Epub 2022 Jul 21 doi: 10.1016/j.arbres.2022.07.009. PMID: 35914957
Şekkeli MZ, Hoşal MB, Öcal E, Heper A
Arq Bras Oftalmol 2021;84(5):490-493. Epub 2021 Sep 20 doi: 10.5935/0004-2749.20210072. PMID: 34550219
Paleti S, Fischer EG, Rustagi T
Clin Gastroenterol Hepatol 2021 Jul;19(7):e73. Epub 2020 Apr 30 doi: 10.1016/j.cgh.2020.04.064. PMID: 32360803
Requena L, Fernández-Figueras MT
Semin Cutan Med Surg 2007 Jun;26(2):96-9. doi: 10.1016/j.sder.2007.02.006. PMID: 17544961

Therapy

Balazic E, Axler E, Konisky H, Khanna U, Kobets K
J Cosmet Dermatol 2023 Feb;22(2):410-417. Epub 2022 Oct 31 doi: 10.1111/jocd.15445. PMID: 36208009
Heitmann JS, Bilich T, Tandler C, Nelde A, Maringer Y, Marconato M, Reusch J, Jäger S, Denk M, Richter M, Anton L, Weber LM, Roerden M, Bauer J, Rieth J, Wacker M, Hörber S, Peter A, Meisner C, Fischer I, Löffler MW, Karbach J, Jäger E, Klein R, Rammensee HG, Salih HR, Walz JS
Nature 2022 Jan;601(7894):617-622. Epub 2021 Nov 23 doi: 10.1038/s41586-021-04232-5. PMID: 34814158Free PMC Article
Joshi TP, Duvic M
Am J Clin Dermatol 2022 Jan;23(1):37-50. Epub 2021 Sep 8 doi: 10.1007/s40257-021-00636-1. PMID: 34495491Free PMC Article
Gerke AK
Front Immunol 2020;11:545413. Epub 2020 Nov 19 doi: 10.3389/fimmu.2020.545413. PMID: 33329511Free PMC Article
Kedia S, Das P, Madhusudhan KS, Dattagupta S, Sharma R, Sahni P, Makharia G, Ahuja V
World J Gastroenterol 2019 Jan 28;25(4):418-432. doi: 10.3748/wjg.v25.i4.418. PMID: 30700939Free PMC Article

Prognosis

Barbieri JS, Rodriguez O, Rosenbach M, Margolis D
JAMA Dermatol 2021 Jul 1;157(7):824-830. doi: 10.1001/jamadermatol.2021.1847. PMID: 34106215Free PMC Article
Piekarski E, Benali K, Rouzet F
Semin Nucl Med 2018 May;48(3):246-260. Epub 2018 Mar 9 doi: 10.1053/j.semnuclmed.2018.02.005. PMID: 29626942
Woodward J, Khan T, Martin J
Facial Plast Surg Clin North Am 2015 Nov;23(4):447-58. doi: 10.1016/j.fsc.2015.07.006. PMID: 26505541
Margolis R, Lowder CY
Curr Opin Ophthalmol 2007 Nov;18(6):470-5. doi: 10.1097/ICU.0b013e3282f06c6c. PMID: 18162998
Duncan WK, Post AC, McCoy BP
Oral Surg Oral Med Oral Pathol 1988 Jun;65(6):736-41. doi: 10.1016/0030-4220(88)90020-5. PMID: 3041337

Clinical prediction guides

Kedia S, Das P, Madhusudhan KS, Dattagupta S, Sharma R, Sahni P, Makharia G, Ahuja V
World J Gastroenterol 2019 Jan 28;25(4):418-432. doi: 10.3748/wjg.v25.i4.418. PMID: 30700939Free PMC Article
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul-Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785
Abbas O, Mahalingam M
Am J Dermatopathol 2013 Feb;35(1):83-91. doi: 10.1097/DAD.0b013e31824feb4e. PMID: 23348142
Miller DV, Tazelaar HD
Arch Pathol Lab Med 2010 Mar;134(3):362-8. doi: 10.5858/134.3.362. PMID: 20196664
Bhardwaj SS, Saxena R, Kwo PY
Curr Gastroenterol Rep 2009 Feb;11(1):42-9. doi: 10.1007/s11894-009-0007-5. PMID: 19166658

Recent systematic reviews

Machado RA, Oliveira LQ, Martelli-Júnior H, Pires FR, Carvas JB, Rogerio VE, Rabelo VD, Coletta RD
Med Oral Patol Oral Cir Bucal 2023 May 1;28(3):e278-e284. doi: 10.4317/medoral.25713. PMID: 36565218Free PMC Article
Mukovozov IM, Kashetsky N, Richer V
Photodermatol Photoimmunol Photomed 2022 Jul;38(4):301-310. Epub 2021 Dec 15 doi: 10.1111/phpp.12756. PMID: 34875119
Chu S, Michelle L, Ekelem C, Sung CT, Rojek N, Mesinkovska NA
Arch Dermatol Res 2021 Aug;313(6):391-430. Epub 2020 Nov 5 doi: 10.1007/s00403-020-02152-4. PMID: 33151346
Lindhaus C, Elsner P
Acta Derm Venereol 2018 Jan 12;98(1):14-18. doi: 10.2340/00015555-2784. PMID: 28880343
Diedrich CR, O'Hern J, Wilkinson RJ
Tuberculosis (Edinb) 2016 May;98:62-76. Epub 2016 Mar 10 doi: 10.1016/j.tube.2016.02.010. PMID: 27156620

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