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Facial edema

MedGen UID:
154241
Concept ID:
C0542571
Pathologic Function
Synonym: Edema of face
SNOMED CT: Edema of face (445088006)
 
HPO: HP:0000282

Definition

Swelling due to an excessive accumulation of fluid in facial tissues. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFacial edema

Conditions with this feature

Melkersson-Rosenthal syndrome
MedGen UID:
6291
Concept ID:
C0025235
Disease or Syndrome
Melkersson-Rosenthal syndrome is characterized by chronic swelling of the face, peripheral facial palsy, which may be bilateral and may tend to relapse, and in some cases ligua plicata (fissured tongue). The swelling is localized especially to the lips. Onset is usually in childhood or adolescence (summary by Kunstadter, 1965).
Subcutaneous panniculitis-like T-cell lymphoma
MedGen UID:
99306
Concept ID:
C0522624
Neoplastic Process
Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8 (see 186910)+ T cells infiltrate adipose tissue forming subcutaneous nodules. Both children and adults can be affected, with a median age at diagnosis of 36 years and a female gender bias. Most patients have accompanying systemic features such as fever or flank pain. A subset (about 20%) of patients develop hemophagocytic lymphohistiocytosis (HLH), usually associated with CD8+ T cells rimming adipocytes in the bone marrow. An infectious agent is not identified, and the disorder is believed to result from improperly activated inflammation. Immunosuppressive therapy may be helpful; hematopoietic bone marrow transplantation is usually curative (summary by Gayden et al., 2018). For a general discussion of genetic heterogeneity of HLH, see HLH1 (267700).
Fountain syndrome
MedGen UID:
208650
Concept ID:
C0795944
Disease or Syndrome
An extremely rare multi-systemic genetic disorder with characteristics of intellectual disability, deafness, skeletal abnormalities and coarse facial features.The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described. The main clinical features include moderate to severe intellectual deficit, congenital sensorineural hearing impairment and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. The pattern of inheritance appears to be autosomal recessive.
Congenital pulmonary lymphangiectasia
MedGen UID:
340355
Concept ID:
C1849554
Congenital Abnormality
Pulmonary lymphangiectasia is a rare congenital vascular dysplasia characterized by an increased number of dilated pulmonary lymphatics in the subpleural, peribronchial, and interlobular septa. Respiratory distress is usually noted immediately after birth (summary by Stevenson et al., 2006).
Hereditary angioedema type 3
MedGen UID:
346653
Concept ID:
C1857728
Disease or Syndrome
Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The parts of the body that are most often affected by swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.\n\nSymptoms of hereditary angioedema typically begin in childhood and worsen during puberty.  On average, untreated individuals have swelling episodes every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family.\n\nHereditary angioedema is broadly divided into two types, which are distinguished by levels of a protein called C1 inhibitor (C1-INH) in the blood. These types are known as hereditary angioedema due to C1-INH deficiency and hereditary angioedema with normal C1-INH. \n\nHereditary angioedema due to C1-INH deficiency is further divided into two types: type I occurs when C1-INH levels are low, and type II occurs when the C1-INH protein is not functioning correctly. \n\nThe different types of hereditary angioedema have similar signs and symptoms. \n\n
Lymphatic malformation 6
MedGen UID:
908120
Concept ID:
C4225184
Disease or Syndrome
Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Sialidosis type 2
MedGen UID:
924303
Concept ID:
C4282398
Disease or Syndrome
Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (604369) is a form of 'free' sialic acid disease. Classification Lowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.
Lymphatic malformation 7
MedGen UID:
934596
Concept ID:
C4310629
Disease or Syndrome
LMPHM7 is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Lymphedema praecox
MedGen UID:
1648463
Concept ID:
C4746631
Disease or Syndrome
Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of the genetic heterogeneity of lymphocytic malformation, see 153100.
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 localised 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

Liu Q, Zhao S, Chen W
J Clin Pharm Ther 2022 Sep;47(9):1368-1378. Epub 2022 Aug 16 doi: 10.1111/jcpt.13667. PMID: 35971667
Higdon ML, Atkinson CJ, Lawrence KV
Am Fam Physician 2018 Jun 1;97(11):741-748. PMID: 30215936
Chalmers DA
Nurse Pract 1997 Oct;22(10):18, 23-8, 30. PMID: 9355115

Recent clinical studies

Etiology

Okin D, Huang CY, Alba GA, Jesudasen SJ, Dandawate NA, Gavralidis A, Chang LL, Moin EE, Ahmad I, Witkin AS, Hardin CC, Hibbert KA, Kadar A, Gordan PL, Lee H, Thompson BT, Bebell LM, Lai PS
Chest 2023 Mar;163(3):533-542. Epub 2022 Nov 4 doi: 10.1016/j.chest.2022.10.034. PMID: 36343687Free PMC Article
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Mardassi A, Turki S, Mbarek H, Hachicha A, Chebbi G, Benzarti S, Abouda M
Tunis Med 2016 Dec;94(12):856. PMID: 28994885
Ramirez OM
Aesthetic Plast Surg 1994 Fall;18(4):363-71. doi: 10.1007/BF00451341. PMID: 7817884

Diagnosis

Awad A, Goh MS, Trubiano JA
J Allergy Clin Immunol Pract 2023 Jun;11(6):1856-1868. Epub 2023 Mar 7 doi: 10.1016/j.jaip.2023.02.035. PMID: 36893848
Hama N, Abe R, Gibson A, Phillips EJ
J Allergy Clin Immunol Pract 2022 May;10(5):1155-1167.e5. Epub 2022 Feb 15 doi: 10.1016/j.jaip.2022.02.004. PMID: 35176506Free PMC Article
Montes-Tapia F, Barreto-Arroyo I, Cura-Esquivel I, Rodríguez-Taméz A, de la O-Cavazos M
Pediatr Emerg Care 2014 Feb;30(2):114-6. doi: 10.1097/PEC.0000000000000067. PMID: 24488162
Hu SW, Robinson M, Meehan SA, Cohen DE
Dermatol Online J 2012 Dec 15;18(12):27. PMID: 23286817
Araújo Pde P, Matos JO, Madeira FB, Araujo Ade S, Arruda AM, Tomita S
Braz J Otorhinolaryngol 2008 Jul-Aug;74(4):617-20. doi: 10.1016/s1808-8694(15)30613-3. PMID: 18852992Free PMC Article

Therapy

Okin D, Huang CY, Alba GA, Jesudasen SJ, Dandawate NA, Gavralidis A, Chang LL, Moin EE, Ahmad I, Witkin AS, Hardin CC, Hibbert KA, Kadar A, Gordan PL, Lee H, Thompson BT, Bebell LM, Lai PS
Chest 2023 Mar;163(3):533-542. Epub 2022 Nov 4 doi: 10.1016/j.chest.2022.10.034. PMID: 36343687Free PMC Article
Penn EH, Chung HJ, Keller M
Cutis 2017 Mar;99(3):189-192. PMID: 28398413
Hu SW, Robinson M, Meehan SA, Cohen DE
Dermatol Online J 2012 Dec 15;18(12):27. PMID: 23286817
Srivastava RN
Indian J Pediatr 1999 Mar-Apr;66(2):199-205. doi: 10.1007/BF02761208. PMID: 10798062
Ramirez OM
Aesthetic Plast Surg 1994 Fall;18(4):363-71. doi: 10.1007/BF00451341. PMID: 7817884

Prognosis

Kim YJ, Yang HJ, Won CH, Chang SE, Lee MW, Lee WJ
Dermatology 2023;239(5):700-711. Epub 2023 May 25 doi: 10.1159/000530607. PMID: 37231869
Hu SW, Robinson M, Meehan SA, Cohen DE
Dermatol Online J 2012 Dec 15;18(12):27. PMID: 23286817
Murrell KD, Pozio E
Emerg Infect Dis 2011 Dec;17(12):2194-202. doi: 10.3201/eid1712.110896. PMID: 22172230Free PMC Article
Srivastava RN
Indian J Pediatr 1999 Mar-Apr;66(2):199-205. doi: 10.1007/BF02761208. PMID: 10798062
Ramirez OM
Aesthetic Plast Surg 1994 Fall;18(4):363-71. doi: 10.1007/BF00451341. PMID: 7817884

Clinical prediction guides

Awad A, Goh MS, Trubiano JA
J Allergy Clin Immunol Pract 2023 Jun;11(6):1856-1868. Epub 2023 Mar 7 doi: 10.1016/j.jaip.2023.02.035. PMID: 36893848
Luo HR, Zhai X, Xie SM, Jin X
J Cardiothorac Surg 2022 Mar 13;17(1):34. doi: 10.1186/s13019-022-01773-2. PMID: 35282839Free PMC Article
Kaur S, Singh S, Singh R, Singla P
J Postgrad Med 2021 Jul-Sep;67(3):158-163. doi: 10.4103/jpgm.JPGM_746_20. PMID: 34427280Free PMC Article
de Carvalho JF, Lerner A, Gonçalves CM, Shoenfeld Y
Clin Rheumatol 2021 Jun;40(6):2491-2497. Epub 2020 Nov 3 doi: 10.1007/s10067-020-05487-5. PMID: 33145631
Jean S, Dionne PL, Bouchard C, Giasson L, Turgeon AF
J Oral Maxillofac Surg 2017 Dec;75(12):2638-2649. Epub 2017 Jun 24 doi: 10.1016/j.joms.2017.06.014. PMID: 28732219

Recent systematic reviews

Awad A, Goh MS, Trubiano JA
J Allergy Clin Immunol Pract 2023 Jun;11(6):1856-1868. Epub 2023 Mar 7 doi: 10.1016/j.jaip.2023.02.035. PMID: 36893848
AlMofreh AlQahtani F, Kuriadom ST, Bishawi K, AlAssiri N
J Craniofac Surg 2023 May 1;34(3):1031-1035. Epub 2022 Nov 15 doi: 10.1097/SCS.0000000000009134. PMID: 36377043
Jean S, Dionne PL, Bouchard C, Giasson L, Turgeon AF
J Oral Maxillofac Surg 2017 Dec;75(12):2638-2649. Epub 2017 Jun 24 doi: 10.1016/j.joms.2017.06.014. PMID: 28732219
de Lima VN, Lemos CAA, Faverani LP, Santiago Júnior JF, Pellizzer EP
J Oral Maxillofac Surg 2017 Jul;75(7):1528.e1-1528.e8. Epub 2017 Mar 31 doi: 10.1016/j.joms.2017.03.039. PMID: 28438598
Wei AT, Madsen C, Al-Sheemy A, Kumar AR
J Craniofac Surg 2015 Jan;26(1):226-31. doi: 10.1097/SCS.0000000000001405. PMID: 25569398

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