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Diffuse leiomyomatosis

MedGen UID:
870536
Concept ID:
C4024984
Neoplastic Process
HPO: HP:0006756

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiffuse leiomyomatosis

Conditions with this feature

X-linked diffuse leiomyomatosis-Alport syndrome
MedGen UID:
333429
Concept ID:
C1839884
Disease or Syndrome
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
X-linked Alport syndrome
MedGen UID:
1648433
Concept ID:
C4746986
Disease or Syndrome
In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS). In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with ADAS, ESRD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.

Professional guidelines

PubMed

Jin X, Cao Y, Mi K, Jiang Y, Fan Q, Shi H
Int J Gynaecol Obstet 2023 Oct;163(1):51-57. Epub 2023 Apr 4 doi: 10.1002/ijgo.14769. PMID: 37014595
Zhang X, Tian T, Zhu J, Lin B, Feng X, Zhang L, Yang X, Aili A
Int J Hyperthermia 2020;37(1):1060-1065. doi: 10.1080/02656736.2020.1815871. PMID: 32892661
Otsubo Y, Nishida M, Arai Y, Ichikawa R, Sakanaka M
Arch Gynecol Obstet 2014 Oct;290(4):815-8. Epub 2014 Jun 15 doi: 10.1007/s00404-014-3309-2. PMID: 24930118

Recent clinical studies

Etiology

Karpathiou G, Chauleur C, Dal Col P, Dridi M, Laville D, Mobarki M, Peoc'h M
Pathol Res Pract 2020 Aug;216(8):152992. Epub 2020 May 4 doi: 10.1016/j.prp.2020.152992. PMID: 32475645
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Ip PP, Tse KY, Tam KF
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Diagnosis

Hoelscher AC, Hoelscher AH, Drebber U, Bludau M, Schroeder W
Ann Thorac Surg 2012 Sep;94(3):e65-7. doi: 10.1016/j.athoracsur.2012.02.078. PMID: 22916782
Ip PP, Tse KY, Tam KF
Adv Anat Pathol 2010 Mar;17(2):91-112. doi: 10.1097/PAP.0b013e3181cfb901. PMID: 20179432
Ueda H, Togashi K, Konishi I, Kataoka ML, Koyama T, Fujiwara T, Kobayashi H, Fujii S, Konishi J
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Kashtan CE
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Kashtan CE
Proc Assoc Am Physicians 1995 Oct;107(3):306-13. PMID: 8608415

Therapy

Kitaya K, Yasuo T, Nakamura Y
Clin Exp Obstet Gynecol 2014;41(3):357-9. PMID: 24992796
Nishida M, Ichikawa R, Arai Y, Sakanaka M, Otsubo Y
J Obstet Gynaecol Res 2014 Jun;40(6):1689-94. doi: 10.1111/jog.12382. PMID: 24888935
Burgos R, Muñiz E, Rosa ER, Olivares CJ, Romaguera J
P R Health Sci J 2013 Dec;32(4):200-2. PMID: 24397218
Koh J, Kim MD, Jung DC, Lee M, Lee MS, Won JY, Lee DY, Park SI, Lee KH
Eur J Radiol 2012 Oct;81(10):2726-9. Epub 2011 Dec 10 doi: 10.1016/j.ejrad.2011.11.010. PMID: 22154588
Baschinsky DY, Isa A, Niemann TH, Prior TW, Lucas JG, Frankel WL
Hum Pathol 2000 Nov;31(11):1429-32. PMID: 11112221

Prognosis

Nishida M, Ichikawa R, Arai Y, Sakanaka M, Otsubo Y
J Obstet Gynaecol Res 2014 Jun;40(6):1689-94. doi: 10.1111/jog.12382. PMID: 24888935
Hoelscher AC, Hoelscher AH, Drebber U, Bludau M, Schroeder W
Ann Thorac Surg 2012 Sep;94(3):e65-7. doi: 10.1016/j.athoracsur.2012.02.078. PMID: 22916782
Koh J, Kim MD, Jung DC, Lee M, Lee MS, Won JY, Lee DY, Park SI, Lee KH
Eur J Radiol 2012 Oct;81(10):2726-9. Epub 2011 Dec 10 doi: 10.1016/j.ejrad.2011.11.010. PMID: 22154588
Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310
Mulvany NJ, Ostör AG, Ross I
Histopathology 1995 Aug;27(2):175-9. doi: 10.1111/j.1365-2559.1995.tb00026.x. PMID: 8835266

Clinical prediction guides

Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP
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Pujol J, Parés D, Mora L, Sans M, Jaurrieta E
Dis Esophagus 2000;13(2):169-71. doi: 10.1046/j.1442-2050.2000.00107.x. PMID: 14601911
Ueda H, Togashi K, Konishi I, Kataoka ML, Koyama T, Fujiwara T, Kobayashi H, Fujii S, Konishi J
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