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Finger swelling

MedGen UID:
65989
Concept ID:
C0239598
Finding
Synonyms: Swelling of finger; Swelling of fingers; Swollen finger; Swollen fingers
SNOMED CT: Swollen finger (299060006); Swelling of finger (299060006)
 
HPO: HP:0025131

Definition

Enlargement of the soft tissues of one or more fingers. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFinger swelling

Conditions with this feature

Lowe syndrome
MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.
Multicentric osteolysis nodulosis arthropathy spectrum
MedGen UID:
342428
Concept ID:
C1850155
Disease or Syndrome
Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years).
Proteasome-associated autoinflammatory syndrome 1
MedGen UID:
1648310
Concept ID:
C4746851
Disease or Syndrome
Proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is an autosomal recessive disorder characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22; and PRAAS6 (620796), caused by mutation in the PSMB9 gene (177045) on chromosome 6p21.
Proteasome-associated autoinflammatory syndrome 3
MedGen UID:
1648456
Concept ID:
C4747850
Disease or Syndrome
Proteasome-associated autoinflammatory syndrome-3 (PRAAS3) is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).

Professional guidelines

PubMed

Flamm SL, Wong F, Ahn J, Kamath PS
Clin Gastroenterol Hepatol 2022 Dec;20(12):2707-2716. Epub 2022 Sep 6 doi: 10.1016/j.cgh.2022.08.033. PMID: 36075500
Ihn H
Allergol Int 2019 Oct;68(4):437-439. Epub 2019 Mar 22 doi: 10.1016/j.alit.2019.03.001. PMID: 30910631
Valdes K, Naughton N, Algar L
J Hand Ther 2015 Jul-Sep;28(3):237-45; quiz 246. Epub 2015 Mar 10 doi: 10.1016/j.jht.2015.03.001. PMID: 26003015

Recent clinical studies

Etiology

Cheesman QT, Kwan SA, DeFrance MJ, Jennings JD, Rivlin M, Matzon JL
J Hand Surg Am 2024 Nov;49(11):1138.e1-1138.e6. Epub 2023 Apr 1 doi: 10.1016/j.jhsa.2023.01.025. PMID: 37005108
Bucx MJL, Sedik IO, Jenniskens M, Kox M, Heijne A
Eur J Anaesthesiol 2021 Mar 1;38(Suppl 1):S18-S23. doi: 10.1097/EJA.0000000000001334. PMID: 33009188
Yi A, Kennedy C, Chia B, Kennedy SA
J Hand Surg Am 2019 May;44(5):394-399. Epub 2019 Feb 21 doi: 10.1016/j.jhsa.2019.01.013. PMID: 30797654
Werthel JD, Cortez M, Elhassan BT
Hand Surg Rehabil 2016 Jun;35(3):179-182. Epub 2016 Mar 14 doi: 10.1016/j.hansur.2016.02.004. PMID: 27740459
Faizan M, Anwar S, Nabeela, Ali AS
J Coll Physicians Surg Pak 2015 Oct;25(10):774-5. doi: 10.2015/JCPSP.774775. PMID: 26454395

Diagnosis

Simms RW
Arthritis Rheumatol 2020 Sep;72(9):1415-1426. Epub 2020 Aug 9 doi: 10.1002/art.41406. PMID: 32562363
Iemura-Kashiwagi M, Ito I, Ikeguchi R, Kadoya M, Iemura T, Yoshida S, Suzuki K, Hirai T
J Infect Chemother 2020 Jan;26(1):136-139. Epub 2019 Jul 23 doi: 10.1016/j.jiac.2019.06.013. PMID: 31345743
Fester A, Tukur G, Paddock M
BMJ Case Rep 2017 Jul 4;2017 doi: 10.1136/bcr-2017-221038. PMID: 28676475Free PMC Article
Naviglio S, Mazzolai M, Ventura A
J Pediatr 2017 Sep;188:299. Epub 2017 May 25 doi: 10.1016/j.jpeds.2017.04.064. PMID: 28552452
Suchard JR
Acad Emerg Med 1998 Aug;5(8):813-4, 835-8. doi: 10.1111/j.1553-2712.1998.tb02509.x. PMID: 9715244

Therapy

Simms RW
Arthritis Rheumatol 2020 Sep;72(9):1415-1426. Epub 2020 Aug 9 doi: 10.1002/art.41406. PMID: 32562363
Iemura-Kashiwagi M, Ito I, Ikeguchi R, Kadoya M, Iemura T, Yoshida S, Suzuki K, Hirai T
J Infect Chemother 2020 Jan;26(1):136-139. Epub 2019 Jul 23 doi: 10.1016/j.jiac.2019.06.013. PMID: 31345743
Lin F, Harrison N, Mamtani M
Ann Emerg Med 2018 Jul;72(1):103-113. doi: 10.1016/j.annemergmed.2018.01.006. PMID: 29929646
Huo N, Wu Z, Dong X, Feng L, Nong L, Wang H, Zhao H
Int J Infect Dis 2017 Jun;59:82-85. Epub 2017 Apr 11 doi: 10.1016/j.ijid.2017.04.001. PMID: 28408251
Suchard JR
Acad Emerg Med 1998 Aug;5(8):813-4, 835-8. doi: 10.1111/j.1553-2712.1998.tb02509.x. PMID: 9715244

Prognosis

Cheesman QT, Kwan SA, DeFrance MJ, Jennings JD, Rivlin M, Matzon JL
J Hand Surg Am 2024 Nov;49(11):1138.e1-1138.e6. Epub 2023 Apr 1 doi: 10.1016/j.jhsa.2023.01.025. PMID: 37005108
Yi A, Kennedy C, Chia B, Kennedy SA
J Hand Surg Am 2019 May;44(5):394-399. Epub 2019 Feb 21 doi: 10.1016/j.jhsa.2019.01.013. PMID: 30797654
Werthel JD, Cortez M, Elhassan BT
Hand Surg Rehabil 2016 Jun;35(3):179-182. Epub 2016 Mar 14 doi: 10.1016/j.hansur.2016.02.004. PMID: 27740459
Faizan M, Anwar S, Nabeela, Ali AS
J Coll Physicians Surg Pak 2015 Oct;25(10):774-5. doi: 10.2015/JCPSP.774775. PMID: 26454395
Herzer P
Scand J Infect Dis Suppl 1991;77:55-63. PMID: 1947813

Clinical prediction guides

Cheesman QT, Kwan SA, DeFrance MJ, Jennings JD, Rivlin M, Matzon JL
J Hand Surg Am 2024 Nov;49(11):1138.e1-1138.e6. Epub 2023 Apr 1 doi: 10.1016/j.jhsa.2023.01.025. PMID: 37005108
Bucx MJL, Sedik IO, Jenniskens M, Kox M, Heijne A
Eur J Anaesthesiol 2021 Mar 1;38(Suppl 1):S18-S23. doi: 10.1097/EJA.0000000000001334. PMID: 33009188
Yi A, Kennedy C, Chia B, Kennedy SA
J Hand Surg Am 2019 May;44(5):394-399. Epub 2019 Feb 21 doi: 10.1016/j.jhsa.2019.01.013. PMID: 30797654
Gong P, Huang XE, Chen CY, Liu JH, Meng AF, Feng JF
Asian Pac J Cancer Prev 2012;13(5):1873-5. doi: 10.7314/apjcp.2012.13.5.1873. PMID: 22901139

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