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Mucocutaneous ulceration, chronic(CMCU; AIFBL3)

MedGen UID:
1648375
•Concept ID:
C4748997
•
Disease or Syndrome
Synonyms: AIFBL3; AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE 3; AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE-3; CMCU; MUCOCUTANEOUS ULCERATION, CHRONIC
 
Gene (location): RELA (11q13.1)
 
Monarch Initiative: MONDO:0032659
OMIM®: 618287

Definition

Familial Behcet-like autoinflammatory disease-3 (AIFBL3) is an autosomal dominant disorder characterized predominantly by chronic mucocutaneous ulceration (summary by Lecerf et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of AIFBL, see AIFBL1 (616744). [from OMIM]

Clinical features

From HPO
Vaginal mucosal ulceration
MedGen UID:
1660755
•Concept ID:
C4748998
•
Pathologic Function
See: Feature record | Search on this feature
Ileitis
MedGen UID:
9410
•Concept ID:
C0020877
•
Disease or Syndrome
Inflammation of the ileum.
See: Feature record | Search on this feature
Recurrent infections
MedGen UID:
65998
•Concept ID:
C0239998
•
Finding
Increased susceptibility to infections.
See: Feature record | Search on this feature
Oral ulcer
MedGen UID:
57699
•Concept ID:
C0149745
•
Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

An evaluation of apremilast for the treatment of adult patients with oral ulcers associated with Behçet's syndrome.
Özdede A, Hatemi G
Expert Opin Pharmacother 2021 Aug;22(12):1533-1537. Epub 2021 Jul 5 doi: 10.1080/14656566.2021.1939307. PMID: 34218739
Guidelines for the treatment of skin and mucosal lesions in Behçet's disease: A secondary publication.
Nakamura K, Iwata Y, Asai J, Kawakami T, Tsunemi Y, Takeuchi M, Mizuki N, Kaneko F; Members of the Consensus Conference on Treatment of Skin and Mucosal Lesions (Committee of Guideline for the Diagnosis and Treatment of Mucocutaneous Lesions of Behçet's disease)
J Dermatol 2020 Mar;47(3):223-235. Epub 2020 Jan 6 doi: 10.1111/1346-8138.15207. PMID: 31907947
Recurrent oral ulceration: Etiology, classification, management, and diagnostic algorithm.
Bilodeau EA, Lalla RV
Periodontol 2000 2019 Jun;80(1):49-60. doi: 10.1111/prd.12262. PMID: 31090148

Recent clinical studies

Etiology

New concepts in EBV-associated B, T, and NK cell lymphoproliferative disorders.
Quintanilla-Martinez L, Swerdlow SH, Tousseyn T, Barrionuevo C, Nakamura S, Jaffe ES
Virchows Arch 2023 Jan;482(1):227-244. Epub 2022 Oct 11 doi: 10.1007/s00428-022-03414-4. PMID: 36216980Free PMC Article
Impact of Epstein-Barr virus infection in patients with inflammatory bowel disease.
Zhang H, Zhao S, Cao Z
Front Immunol 2022;13:1001055. Epub 2022 Oct 28 doi: 10.3389/fimmu.2022.1001055. PMID: 36389673Free PMC Article
Juvenile-onset Behçet's syndrome and mimics.
Pain CE
Clin Immunol 2020 May;214:108381. Epub 2020 Mar 10 doi: 10.1016/j.clim.2020.108381. PMID: 32165216
The 2018 update of the WHO-EORTC classification for primary cutaneous lymphomas.
Willemze R, Cerroni L, Kempf W, Berti E, Facchetti F, Swerdlow SH, Jaffe ES
Blood 2019 Apr 18;133(16):1703-1714. Epub 2019 Jan 11 doi: 10.1182/blood-2018-11-881268. PMID: 30635287Free PMC Article
Chronic mucocutaneous herpes simplex virus and varicella zoster virus infections.
Wauters O, Lebas E, Nikkels AF
J Am Acad Dermatol 2012 Jun;66(6):e217-27. Epub 2010 Nov 5 doi: 10.1016/j.jaad.2010.07.011. PMID: 21056516

Diagnosis

New concepts in EBV-associated B, T, and NK cell lymphoproliferative disorders.
Quintanilla-Martinez L, Swerdlow SH, Tousseyn T, Barrionuevo C, Nakamura S, Jaffe ES
Virchows Arch 2023 Jan;482(1):227-244. Epub 2022 Oct 11 doi: 10.1007/s00428-022-03414-4. PMID: 36216980Free PMC Article
Impact of Epstein-Barr virus infection in patients with inflammatory bowel disease.
Zhang H, Zhao S, Cao Z
Front Immunol 2022;13:1001055. Epub 2022 Oct 28 doi: 10.3389/fimmu.2022.1001055. PMID: 36389673Free PMC Article
Diffuse large B-cell lymphoma variants: an update.
Sukswai N, Lyapichev K, Khoury JD, Medeiros LJ
Pathology 2020 Jan;52(1):53-67. Epub 2019 Nov 15 doi: 10.1016/j.pathol.2019.08.013. PMID: 31735345
The 2018 update of the WHO-EORTC classification for primary cutaneous lymphomas.
Willemze R, Cerroni L, Kempf W, Berti E, Facchetti F, Swerdlow SH, Jaffe ES
Blood 2019 Apr 18;133(16):1703-1714. Epub 2019 Jan 11 doi: 10.1182/blood-2018-11-881268. PMID: 30635287Free PMC Article
Behçet's disease.
Bonfioli AA, Orefice F
Semin Ophthalmol 2005 Jul-Sep;20(3):199-206. doi: 10.1080/08820530500231953. PMID: 16282155

Therapy

An evaluation of apremilast for the treatment of adult patients with oral ulcers associated with Behçet's syndrome.
Özdede A, Hatemi G
Expert Opin Pharmacother 2021 Aug;22(12):1533-1537. Epub 2021 Jul 5 doi: 10.1080/14656566.2021.1939307. PMID: 34218739
Digital ischemia in Behçet's disease: case-based review.
Hari G, Skeik N
Rheumatol Int 2020 Jan;40(1):137-143. Epub 2019 Oct 9 doi: 10.1007/s00296-019-04452-z. PMID: 31598753
Interventions for the management of oral ulcers in Behçet's disease.
Taylor J, Glenny AM, Walsh T, Brocklehurst P, Riley P, Gorodkin R, Pemberton MN
Cochrane Database Syst Rev 2014 Sep 25;2014(9):CD011018. doi: 10.1002/14651858.CD011018.pub2. PMID: 25254615Free PMC Article
Behçet's disease.
Saadoun D, Wechsler B
Orphanet J Rare Dis 2012 Apr 12;7:20. doi: 10.1186/1750-1172-7-20. PMID: 22497990Free PMC Article
Behçet's disease.
Bonfioli AA, Orefice F
Semin Ophthalmol 2005 Jul-Sep;20(3):199-206. doi: 10.1080/08820530500231953. PMID: 16282155

Prognosis

New concepts in EBV-associated B, T, and NK cell lymphoproliferative disorders.
Quintanilla-Martinez L, Swerdlow SH, Tousseyn T, Barrionuevo C, Nakamura S, Jaffe ES
Virchows Arch 2023 Jan;482(1):227-244. Epub 2022 Oct 11 doi: 10.1007/s00428-022-03414-4. PMID: 36216980Free PMC Article
Impact of Epstein-Barr virus infection in patients with inflammatory bowel disease.
Zhang H, Zhao S, Cao Z
Front Immunol 2022;13:1001055. Epub 2022 Oct 28 doi: 10.3389/fimmu.2022.1001055. PMID: 36389673Free PMC Article
The 2018 update of the WHO-EORTC classification for primary cutaneous lymphomas.
Willemze R, Cerroni L, Kempf W, Berti E, Facchetti F, Swerdlow SH, Jaffe ES
Blood 2019 Apr 18;133(16):1703-1714. Epub 2019 Jan 11 doi: 10.1182/blood-2018-11-881268. PMID: 30635287Free PMC Article
Behçet's disease.
Saadoun D, Wechsler B
Orphanet J Rare Dis 2012 Apr 12;7:20. doi: 10.1186/1750-1172-7-20. PMID: 22497990Free PMC Article
Behçet's disease.
Bonfioli AA, Orefice F
Semin Ophthalmol 2005 Jul-Sep;20(3):199-206. doi: 10.1080/08820530500231953. PMID: 16282155

Clinical prediction guides

Characteristics of Patients With Behçet Disease From the Van Province, Eastern Turkey: Definition of Disease Clusters in a Tertiary Referral Center.
Oguz E, Bektaş M
J Clin Rheumatol 2023 Sep 1;29(6):285-290. Epub 2023 Jun 28 doi: 10.1097/RHU.0000000000001996. PMID: 37370214
Evaluation of diagnostic performance of haematological parameters in Behçet's disease.
Tezcan D, Körez MK, Gülcemal S, Hakbilen S, Akdağ T, Yılmaz S
Int J Clin Pract 2021 Oct;75(10):e14638. Epub 2021 Aug 1 doi: 10.1111/ijcp.14638. PMID: 34309974
An evaluation of apremilast for the treatment of adult patients with oral ulcers associated with Behçet's syndrome.
Özdede A, Hatemi G
Expert Opin Pharmacother 2021 Aug;22(12):1533-1537. Epub 2021 Jul 5 doi: 10.1080/14656566.2021.1939307. PMID: 34218739
Mechanisms of Immunopathogenesis in Cutaneous Leishmaniasis And Post Kala-azar Dermal Leishmaniasis (PKDL).
Volpedo G, Pacheco-Fernandez T, Holcomb EA, Cipriano N, Cox B, Satoskar AR
Front Cell Infect Microbiol 2021;11:685296. Epub 2021 Jun 8 doi: 10.3389/fcimb.2021.685296. PMID: 34169006Free PMC Article
Therapeutic Targeting of Th17/Tc17 Cells Leads to Clinical Improvement of Lichen Planus.
Solimani F, Pollmann R, Schmidt T, Schmidt A, Zheng X, Savai R, Mühlenbein S, Pickert J, Eubel V, Möbs C, Eming R, Hertl M
Front Immunol 2019;10:1808. Epub 2019 Jul 31 doi: 10.3389/fimmu.2019.01808. PMID: 31417572Free PMC Article

Recent systematic reviews

Interventions for the management of oral ulcers in Behçet's disease.
Taylor J, Glenny AM, Walsh T, Brocklehurst P, Riley P, Gorodkin R, Pemberton MN
Cochrane Database Syst Rev 2014 Sep 25;2014(9):CD011018. doi: 10.1002/14651858.CD011018.pub2. PMID: 25254615Free PMC Article
Chronic ulcerative stomatitis: diagnostic and management challenges--four new cases and review of literature.
Islam MN, Cohen DM, Ojha J, Stewart CM, Katz J, Bhattacharyya I
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Aug;104(2):194-203. Epub 2007 Jun 7 doi: 10.1016/j.tripleo.2007.02.013. PMID: 17560144

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