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Swollen lip

MedGen UID:
116100
Concept ID:
C0240211
Sign or Symptom
Synonyms: Lip swelling; Swelling of the lips
SNOMED CT: Lip swelling (699376002)
 
HPO: HP:0031244

Definition

Enlargement of the lip typically due to fluid buildup or inflammation. [from HPO]

Term Hierarchy

Conditions with this feature

Neu-Laxova syndrome 1
MedGen UID:
1633287
Concept ID:
C4551478
Disease or Syndrome
Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.
Angioedema, hereditary, 4
MedGen UID:
1787336
Concept ID:
C5543503
Disease or Syndrome
Hereditary angioedema-4 (HAE4) is an autosomal dominant disorder characterized by episodic subcutaneous or submucosal edema with onset usually in adulthood. Swelling most commonly involves the face and tongue, sometimes resulting in occlusion of the airway, which can cause death. The larynx, abdomen, and limbs may also be involved. Circulating C1 inhibitor (C1INH) levels and function, as well as plasminogen levels and activity, are normal. Although the disorder is autosomal dominant, there is evidence of incomplete penetrance, variable expressivity, and female predominance. The episodes may be triggered by stress, oral contraceptives, ACE inhibitors, and angiotensin II receptor blockades. The pathogenesis is believed to be due to altered plasmin function resulting in enhanced release of bradykinin. Successful clinical management has been achieved with tranexamic acid, which inhibits plasmin, and icatibant, a selective bradykinin B2 receptor (113503) antagonist (summary by Farkas et al., 2021). For a discussion of genetic heterogeneity of HAE, see 106100.
Angioedema, hereditary, 5
MedGen UID:
1780904
Concept ID:
C5543508
Disease or Syndrome
Hereditary angioedema-5 (HAE5) is an autosomal dominant disorder characterized by localized and self-limiting edema of the subcutaneous or submucosal tissue due to an episodic increase in vascular permeability. Affected individuals have onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life. Treatment with tranexamic acid may be effective in reducing the severity and frequency of the attacks (summary by Bafunno et al., 2018). For a discussion of genetic heterogeneity of hereditary angioedema, see 106100.
Angioedema, hereditary, 6
MedGen UID:
1785484
Concept ID:
C5543516
Disease or Syndrome
Hereditary angioedema-6 (HAE6) is an autosomal dominant disorder characterized by onset of episodic subcutaneous and submucosal swelling in adulthood. The face, mouth, and tongue are often affected; some patients have distal limb or abdominal edema. Levels of complement component inhibitor (C1INH; 606860) are normal (summary by Bork et al., 2019). For a discussion of genetic heterogeneity of HAE, see 106100.
Angioedema, hereditary, 7
MedGen UID:
1784046
Concept ID:
C5543526
Disease or Syndrome
Hereditary angioedema-7 (HAE7) is an autosomal dominant disorder characterized by onset of recurrent episodic swelling of the face, lips, and oral mucosa in the second decade. The disorder is due to abnormal vascular permeability (summary by Ariano et al., 2020). For a discussion of genetic heterogeneity of HAE, see 106100.
Angioedema, hereditary, 8
MedGen UID:
1780930
Concept ID:
C5543528
Disease or Syndrome
Hereditary angioedema-8 (HAE8) is an autosomal dominant disorder characterized clinically by recurrent and self-limited episodes of localized edema in various organs, including the face, tongue, larynx, and extremities. In rare cases, swelling of the tongue or larynx can lead to airway obstruction. Abdominal attacks may also occur, resulting in abdominal pain, vomiting, and diarrhea. The disorder results from enhanced vascular permeability (summary by Bork et al., 2021). For a discussion of genetic heterogeneity of HAE, see 106100.

Professional guidelines

PubMed

Malamos D, Scully C
Dent Update 2017 Jan;44(1):70-2, 74. doi: 10.12968/denu.2017.44.1.70. PMID: 29172315

Recent clinical studies

Etiology

Nico MM, Nakano de Melo J, Lourenço SV
J Am Acad Dermatol 2010 Feb;62(2):233-8. Epub 2009 Dec 11 doi: 10.1016/j.jaad.2009.06.038. PMID: 20005008

Diagnosis

Schubert L, Tobudic S, Sillaber C, Winkler S
J Travel Med 2022 Aug 20;29(5) doi: 10.1093/jtm/taac008. PMID: 35134230
Arias-Santiago S, Orgaz-Molina J, Naranjo-Sintes R
Lancet 2013 Jun 29;381(9885):2280. Epub 2013 Jan 18 doi: 10.1016/S0140-6736(12)61414-7. PMID: 23333287
Nico MM, Nakano de Melo J, Lourenço SV
J Am Acad Dermatol 2010 Feb;62(2):233-8. Epub 2009 Dec 11 doi: 10.1016/j.jaad.2009.06.038. PMID: 20005008
Vañó-Galván S, Moreno-Martin P, Arrazola JM, Jaén P
Cleve Clin J Med 2009 Jan;76(1):12-5. doi: 10.3949/ccjm.76a.08030. PMID: 19122107
Patel SV, Lane JE
Am J Med 2007 Jun;120(6):509-11. doi: 10.1016/j.amjmed.2007.01.022. PMID: 17524751

Therapy

Cohen HV, Marano J, Abbas A, Haribabu PK, Quek SYP, Subramanian G
J N J Dent Assoc 2016 Aug;87(2):12-13. PMID: 30290087
Conti G, Dolci M, Borgonovo A, Maiorana C
Eur J Paediatr Dent 2012 Sep;13(3):239-40. PMID: 22971264
Nico MM, Nakano de Melo J, Lourenço SV
J Am Acad Dermatol 2010 Feb;62(2):233-8. Epub 2009 Dec 11 doi: 10.1016/j.jaad.2009.06.038. PMID: 20005008
Vañó-Galván S, Moreno-Martin P, Arrazola JM, Jaén P
Cleve Clin J Med 2009 Jan;76(1):12-5. doi: 10.3949/ccjm.76a.08030. PMID: 19122107
Patel SV, Lane JE
Am J Med 2007 Jun;120(6):509-11. doi: 10.1016/j.amjmed.2007.01.022. PMID: 17524751

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