U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Aphthous stomatitis

MedGen UID:
20959
Concept ID:
C0038363
Disease or Syndrome
Synonym: Aphthous ulcer
SNOMED CT: Aphtha (110426005); Aphthae (110426005); Aphthous ulceration (427617000); Aphthosis (427617000); Aphthous ulcer (427617000); Oral aphthae (426965005); Aphthous ulcer of mouth (426965005); Aphthous stomatitis (426965005); Canker sore (426965005)
 
HPO: HP:0032154
Monarch Initiative: MONDO:0004845

Definition

Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAphthous stomatitis

Conditions with this feature

Familial Mediterranean fever
MedGen UID:
45811
Concept ID:
C0031069
Disease or Syndrome
Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.
Crohn disease-associated growth failure, susceptibility to
MedGen UID:
436348
Concept ID:
C2675113
Finding
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.
Familial cold autoinflammatory syndrome 1
MedGen UID:
1647324
Concept ID:
C4551895
Disease or Syndrome
Cryopyrin-associated periodic syndromes (CAPS) are a group of conditions that have overlapping signs and symptoms and the same genetic cause. The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. FCAS1 is the least severe form of CAPS, MWS is intermediate in severity, and NOMID is the most severe form.\n\nThe signs and symptoms of CAPS affect multiple body systems. Generally, CAPS are characterized by periodic episodes of skin rash, fever, and joint pain. These episodes can be triggered by exposure to cold temperatures, fatigue, other stressors, or they may arise spontaneously. Episodes can last from a few hours to several days. These episodes typically begin in infancy or early childhood and persist throughout life.\n\nWhile the CAPS spectrum shares similar signs and symptoms, the individual conditions tend to have distinct patterns of features. People with FCAS1 are particularly sensitive to the cold, and exposure to cold temperatures can trigger a painful or burning rash. The rash usually affects the torso and limbs but may spread to the rest of the body. In addition to fever and joint pain, other possible symptoms include muscle aches, chills, drowsiness, eye redness, headache, and nausea.\n\nIndividuals with MWS develop the typical periodic episodes of skin rash, fever, and joint pain after cold exposure, although episodes may occur spontaneously or all the time. Additionally, they can develop progressive hearing loss in their teenage years. Other features of MWS include skin lesions or kidney damage from abnormal deposits of a protein called amyloid (amyloidosis).\n\nIn people with NOMID, the signs and symptoms of the condition are usually present from birth and persists throughout life. In addition to skin rash and fever, affected individuals may have joint inflammation, swelling, and joint deformities called contractures that may restrict movement. People with NOMID typically have headaches, seizures, and cognitive impairment resulting from chronic meningitis, which is inflammation of the tissue that covers and protects the brain and spinal cord (meninges). Other features of NOMID include eye problems, short stature, distinctive facial features, and kidney damage caused by amyloidosis.
IL21-related infantile inflammatory bowel disease
MedGen UID:
1799211
Concept ID:
C5567788
Disease or Syndrome
A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.
Immunodeficiency 102
MedGen UID:
1812534
Concept ID:
C5676886
Disease or Syndrome
Immunodeficiency-102 (IMD102) is an X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation (Delmonte et al., 2021).
Immunodeficiency 114, folate-responsive
MedGen UID:
1848890
Concept ID:
C5882719
Disease or Syndrome
Folate-responsive immunodeficiency-114 (IMD114) is an autosomal recessive immunologic disorder characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy. Affected individuals have lip fissures, skin sores and abscesses, genital dermatitis, chronic diarrhea, and poor overall growth. Laboratory studies show megaloblastic anemia, thrombocytopenia, and lymphopenia with decreased Ig levels. Some individuals have global developmental delay, often with brain imaging abnormalities. Treatment with folic acid supplementation results in significant clinical improvement of the hematologic and immunologic abnormalities, although neurologic abnormalities, if already present, do not respond to treatment. Early intervention and treatment with folic acid supplementation may prevent or delay neurologic deficits in affected infants (Gok et al., 2023; Shiraishi et al., 2023).
Neutropenia, severe congenital, 11, autosomal dominant
MedGen UID:
1846394
Concept ID:
C5882742
Disease or Syndrome
Autosomal dominant severe congenital neutropenia-11 (SCN11) is characterized by the onset of recurrent infections, mainly bacterial, in early childhood. Laboratory studies show severe neutropenia due to maturation arrest and impaired development of myeloid cells. Other leukocyte subsets, including B cells and NK cells, may also be subtly affected. Patients should be followed for possible renal dysfunction (Van Nieuwenhove et al., 2020). For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).

Professional guidelines

PubMed

Milia E, Sotgiu MA, Spano G, Filigheddu E, Gallusi G, Campanella V
Eur J Paediatr Dent 2022 Mar;23(1):73-78. doi: 10.23804/ejpd.2022.23.01.14. PMID: 35274547
Gasmi Benahmed A, Noor S, Menzel A, Gasmi A
Arch Razi Inst 2021 Nov;76(5):1155-1163. Epub 2021 Nov 30 doi: 10.22092/ari.2021.356055.1767. PMID: 35355774Free PMC Article
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525

Recent clinical studies

Therapy

Stoopler ET, Villa A, Bindakhil M, Díaz DLO, Sollecito TP
JAMA 2024 Mar 26;331(12):1045-1054. doi: 10.1001/jama.2024.0953. PMID: 38530258
Liu H, Tan L, Fu G, Chen L, Tan H
Medicina (Kaunas) 2022 Jun 7;58(6) doi: 10.3390/medicina58060771. PMID: 35744034Free PMC Article
Lau CB, Smith GP
Dermatol Ther 2022 Jun;35(6):e15500. Epub 2022 Apr 18 doi: 10.1111/dth.15500. PMID: 35395126
Sardana K, Sachdeva S
J Cosmet Dermatol 2022 Jan;21(1):85-98. Epub 2021 Sep 26 doi: 10.1111/jocd.14436. PMID: 34564936
Vanoni F, Theodoropoulou K, Hofer M
Pediatr Rheumatol Online J 2016 Jun 27;14(1):38. doi: 10.1186/s12969-016-0101-9. PMID: 27349388Free PMC Article

Prognosis

Schutt C, Siegel DM
Pediatr Rev 2023 Sep 1;44(9):481-490. doi: 10.1542/pir.2022-005635. PMID: 37653132
Manthiram K
Curr Opin Rheumatol 2023 Nov 1;35(6):423-428. Epub 2023 Jul 17 doi: 10.1097/BOR.0000000000000956. PMID: 37467064Free PMC Article
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Sardana K, Bansal S
Clin Dermatol 2014 Nov-Dec;32(6):827-38. Epub 2014 Mar 1 doi: 10.1016/j.clindermatol.2014.02.023. PMID: 25441477
Lancet 1990 May 5;335(8697):1078-80. PMID: 1970380

Clinical prediction guides

Stoopler ET, Villa A, Bindakhil M, Díaz DLO, Sollecito TP
JAMA 2024 Mar 26;331(12):1045-1054. doi: 10.1001/jama.2024.0953. PMID: 38530258
Randall DA, Wilson Westmark NL, Neville BW
Am Fam Physician 2022 Apr 1;105(4):369-376. PMID: 35426641
Vismara SA, Lava SAG, Kottanattu L, Simonetti GD, Zgraggen L, Clericetti CM, Bianchetti MG, Milani GP
Eur J Pediatr 2020 Oct;179(10):1559-1567. Epub 2020 Apr 15 doi: 10.1007/s00431-020-03647-y. PMID: 32296983
Hong CHL, Dean DR, Hull K, Hu SJ, Sim YF, Nadeau C, Gonçalves S, Lodi G, Hodgson TA
Oral Dis 2019 Jun;25 Suppl 1:193-203. doi: 10.1111/odi.13112. PMID: 31034120
Suter VGA, Sjölund S, Bornstein MM
Lasers Med Sci 2017 May;32(4):953-963. Epub 2017 Mar 27 doi: 10.1007/s10103-017-2184-z. PMID: 28345122

Recent systematic reviews

Parra-Moreno FJ, Egido-Moreno S, Schemel-Suárez M, González-Navarro B, Estrugo-Devesa A, López-López J
Med Oral Patol Oral Cir Bucal 2023 Jan 1;28(1):e87-e98. doi: 10.4317/medoral.25604. PMID: 36173717Free PMC Article
Vismara SA, Lava SAG, Kottanattu L, Simonetti GD, Zgraggen L, Clericetti CM, Bianchetti MG, Milani GP
Eur J Pediatr 2020 Oct;179(10):1559-1567. Epub 2020 Apr 15 doi: 10.1007/s00431-020-03647-y. PMID: 32296983
Suter VGA, Sjölund S, Bornstein MM
Lasers Med Sci 2017 May;32(4):953-963. Epub 2017 Mar 27 doi: 10.1007/s10103-017-2184-z. PMID: 28345122
Gomes CC, Gomez RS, Zina LG, Amaral FR
Med Oral Patol Oral Cir Bucal 2016 Mar 1;21(2):e187-91. doi: 10.4317/medoral.20872. PMID: 26827061Free PMC Article
Staines K, Greenwood M
BMJ Clin Evid 2015 Feb 26;2015 PMID: 25720501Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...