U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

MedGen UID:
1804470
•Concept ID:
C5575322
•
Disease or Syndrome
Synonyms: Cutaneovisceral angiomatosis, thrombocytopenia syndrome; Cutaneovisceral angiomatosis-thrombocytopenia syndrome; cutaneovisceral angiomatosis-thrombocytopenia syndrome; DKFZp434L132; MALT1 wt allele; MLT; MLT - multifocal lymphangioendotheliomatosis with thrombocytopenia; MLT1; mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele; Multifocal lymphangioendotheliomatosis with thrombocytopenia; multifocal lymphangioendotheliomatosis with thrombocytopenia; Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome; multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
SNOMED CT: Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome (1208725005); Cutaneovisceral angiomatosis, thrombocytopenia syndrome (1208725005); MLT - multifocal lymphangioendotheliomatosis with thrombocytopenia (1208725005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018735
Orphanet: ORPHA464321

Definition

A rare lymphatic system anomaly with characteristics of multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically the lesions appear as round to oval red-brown plaques and as large as a few centimeters in diameter. Histopathologically they consist of dilated thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers and resembling benign lymphangioendothelioma. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

Professional guidelines

PubMed

Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants.
Taïeb D, Wanna GB, Ahmad M, Lussey-Lepoutre C, Perrier ND, Nölting S, Amar L, Timmers HJLM, Schwam ZG, Estrera AL, Lim M, Pollom EL, Vitzthum L, Bourdeau I, Casey RT, Castinetti F, Clifton-Bligh R, Corssmit EPM, de Krijger RR, Del Rivero J, Eisenhofer G, Ghayee HK, Gimenez-Roqueplo AP, Grossman A, Imperiale A, Jansen JC, Jha A, Kerstens MN, Kunst HPM, Liu JK, Maher ER, Marchioni D, Mercado-Asis LB, Mete O, Naruse M, Nilubol N, Pandit-Taskar N, Sebag F, Tanabe A, Widimsky J, Meuter L, Lenders JWM, Pacak K
Lancet Diabetes Endocrinol 2023 May;11(5):345-361. Epub 2023 Mar 31 doi: 10.1016/S2213-8587(23)00038-4. PMID: 37011647Free PMC Article
Primary central nervous system vasculitis - An update on diagnosis, differential diagnosis and treatment.
Kraemer M, Berlit P
J Neurol Sci 2021 May 15;424:117422. Epub 2021 Mar 27 doi: 10.1016/j.jns.2021.117422. PMID: 33832773
Chronic inflammatory demyelinating polyneuropathy: update on diagnosis, immunopathogenesis and treatment.
Lehmann HC, Burke D, Kuwabara S
J Neurol Neurosurg Psychiatry 2019 Sep;90(9):981-987. Epub 2019 Apr 16 doi: 10.1136/jnnp-2019-320314. PMID: 30992333

Recent clinical studies

Etiology

Primary aldosteronism - a multidimensional syndrome.
Turcu AF, Yang J, Vaidya A
Nat Rev Endocrinol 2022 Nov;18(11):665-682. Epub 2022 Aug 31 doi: 10.1038/s41574-022-00730-2. PMID: 36045149
Interventions for the Management of Computer Vision Syndrome: A Systematic Review and Meta-analysis.
Singh S, McGuinness MB, Anderson AJ, Downie LE
Ophthalmology 2022 Oct;129(10):1192-1215. Epub 2022 May 18 doi: 10.1016/j.ophtha.2022.05.009. PMID: 35597519
Progressive multifocal leukoencephalopathy and the spectrum of JC virus-related disease.
Cortese I, Reich DS, Nath A
Nat Rev Neurol 2021 Jan;17(1):37-51. Epub 2020 Nov 20 doi: 10.1038/s41582-020-00427-y. PMID: 33219338Free PMC Article
Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.
Wilde AAM, Amin AS
JACC Clin Electrophysiol 2018 May;4(5):569-579. Epub 2018 May 2 doi: 10.1016/j.jacep.2018.03.006. PMID: 29798782
Progressive multifocal leukoencephalopathy and other disorders caused by JC virus: clinical features and pathogenesis.
Tan CS, Koralnik IJ
Lancet Neurol 2010 Apr;9(4):425-37. doi: 10.1016/S1474-4422(10)70040-5. PMID: 20298966Free PMC Article

Diagnosis

Latest advances in white spot syndromes: New findings and interpretations.
Cicinelli MV, Ramtohul P, Marchese A, Bandello F, Bailey Freund K, Miserocchi E, Jampol LM
Prog Retin Eye Res 2023 Nov;97:101207. Epub 2023 Aug 12 doi: 10.1016/j.preteyeres.2023.101207. PMID: 37574123
Primary aldosteronism - a multidimensional syndrome.
Turcu AF, Yang J, Vaidya A
Nat Rev Endocrinol 2022 Nov;18(11):665-682. Epub 2022 Aug 31 doi: 10.1038/s41574-022-00730-2. PMID: 36045149
Immune-mediated disorders.
Höftberger R, Lassmann H
Handb Clin Neurol 2017;145:285-299. doi: 10.1016/B978-0-12-802395-2.00020-1. PMID: 28987176
Differentiating lower motor neuron syndromes.
Garg N, Park SB, Vucic S, Yiannikas C, Spies J, Howells J, Huynh W, Matamala JM, Krishnan AV, Pollard JD, Cornblath DR, Reilly MM, Kiernan MC
J Neurol Neurosurg Psychiatry 2017 Jun;88(6):474-483. Epub 2016 Dec 21 doi: 10.1136/jnnp-2016-313526. PMID: 28003344Free PMC Article
Autoimmune Epilepsy.
Toledano M, Pittock SJ
Semin Neurol 2015 Jun;35(3):245-58. Epub 2015 Jun 10 doi: 10.1055/s-0035-1552625. PMID: 26060904

Therapy

Updated consensus statement: Intravenous immunoglobulin in the treatment of neuromuscular disorders report of the AANEM ad hoc committee.
Tavee J, Brannagan TH 3rd, Lenihan MW, Muppidi S, Kellermeyer L, D Donofrio P; AANEM
Muscle Nerve 2023 Oct;68(4):356-374. Epub 2023 Jul 11 doi: 10.1002/mus.27922. PMID: 37432872
Neuropathology of Anti-Amyloid-β Immunotherapy: A Case Report.
Castellani RJ, Shanes ED, McCord M, Reish NJ, Flanagan ME, Mesulam MM, Jamshidi P
J Alzheimers Dis 2023;93(2):803-813. doi: 10.3233/JAD-221305. PMID: 37125554
Interventions for the Management of Computer Vision Syndrome: A Systematic Review and Meta-analysis.
Singh S, McGuinness MB, Anderson AJ, Downie LE
Ophthalmology 2022 Oct;129(10):1192-1215. Epub 2022 May 18 doi: 10.1016/j.ophtha.2022.05.009. PMID: 35597519
Progressive multifocal leukoencephalopathy and the spectrum of JC virus-related disease.
Cortese I, Reich DS, Nath A
Nat Rev Neurol 2021 Jan;17(1):37-51. Epub 2020 Nov 20 doi: 10.1038/s41582-020-00427-y. PMID: 33219338Free PMC Article
Intravenous immunoglobulin in neurology--mode of action and clinical efficacy.
Lünemann JD, Nimmerjahn F, Dalakas MC
Nat Rev Neurol 2015 Feb;11(2):80-9. Epub 2015 Jan 6 doi: 10.1038/nrneurol.2014.253. PMID: 25561275

Prognosis

Peripheral neuropathies.
Hanewinckel R, Ikram MA, Van Doorn PA
Handb Clin Neurol 2016;138:263-82. doi: 10.1016/B978-0-12-802973-2.00015-X. PMID: 27637963
Autoimmune Epilepsy.
Toledano M, Pittock SJ
Semin Neurol 2015 Jun;35(3):245-58. Epub 2015 Jun 10 doi: 10.1055/s-0035-1552625. PMID: 26060904
Autoimmune peripheral neuropathies.
Bourque PR, Chardon JW, Massie R
Clin Chim Acta 2015 Sep 20;449:37-42. Epub 2015 Mar 4 doi: 10.1016/j.cca.2015.02.039. PMID: 25748038
Neuro-Behçet syndrome.
Saip S, Akman-Demir G, Siva A
Handb Clin Neurol 2014;121:1703-23. doi: 10.1016/B978-0-7020-4088-7.00110-3. PMID: 24365442
Autoantibody testing.
Pourmand R
Neurol Clin 2004 Aug;22(3):703-17, vii. doi: 10.1016/j.ncl.2004.04.001. PMID: 15207881

Clinical prediction guides

SAPHO syndrome: current clinical, diagnostic and treatment approaches.
Demirci Yildirim T, Sari İ
Rheumatol Int 2024 Nov;44(11):2301-2313. Epub 2023 Oct 27 doi: 10.1007/s00296-023-05491-3. PMID: 37889264
Interventions for the Management of Computer Vision Syndrome: A Systematic Review and Meta-analysis.
Singh S, McGuinness MB, Anderson AJ, Downie LE
Ophthalmology 2022 Oct;129(10):1192-1215. Epub 2022 May 18 doi: 10.1016/j.ophtha.2022.05.009. PMID: 35597519
Overview of the 2022 WHO Classification of Adrenal Cortical Tumors.
Mete O, Erickson LA, Juhlin CC, de Krijger RR, Sasano H, Volante M, Papotti MG
Endocr Pathol 2022 Mar;33(1):155-196. Epub 2022 Mar 14 doi: 10.1007/s12022-022-09710-8. PMID: 35288842Free PMC Article
Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.
Mete O, Asa SL, Gill AJ, Kimura N, de Krijger RR, Tischler A
Endocr Pathol 2022 Mar;33(1):90-114. Epub 2022 Mar 13 doi: 10.1007/s12022-022-09704-6. PMID: 35285002
A reliable interictal EEG grading scale for children with infantile spasms - The 2021 BASED score.
Mytinger JR, Vidaurre J, Moore-Clingenpeel M, Stanek JR, Albert DVF
Epilepsy Res 2021 Jul;173:106631. Epub 2021 Apr 2 doi: 10.1016/j.eplepsyres.2021.106631. PMID: 33839516

Recent systematic reviews

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.
Khavandegar A, Mahdaviani SA, Zaki-Dizaji M, Khalili-Moghaddam F, Ansari S, Alijani S, Taherzadeh-Ghahfarrokhi N, Mansouri D, Casanova JL, Bustamante J, Jamee M
J Allergy Clin Immunol 2024 May;153(5):1432-1444. Epub 2024 Feb 8 doi: 10.1016/j.jaci.2024.01.021. PMID: 38341181
Synchronous odontogenic tumors: A systematic review.
Neumann BL, Só BB, Santos LG, Silveira FM, Wagner VP, Vargas PA, Dos Santos JN, Mosqueda-Taylor A, Fonseca FP, Schuch LF, Martins MD
Oral Dis 2023 Oct;29(7):2493-2500. Epub 2022 Nov 7 doi: 10.1111/odi.14401. PMID: 36218070
Interventions for the Management of Computer Vision Syndrome: A Systematic Review and Meta-analysis.
Singh S, McGuinness MB, Anderson AJ, Downie LE
Ophthalmology 2022 Oct;129(10):1192-1215. Epub 2022 May 18 doi: 10.1016/j.ophtha.2022.05.009. PMID: 35597519
Reversible cerebral vasoconstriction syndrome: a comprehensive systematic review.
Song TJ, Lee KH, Li H, Kim JY, Chang K, Kim SH, Han KH, Kim BY, Kronbichler A, Ducros A, Koyanagi A, Jacob L, Kim MS, Yon DK, Lee SW, Yang JM, Hong SH, Ghayda RA, Kang JW, Shin JI, Smith L
Eur Rev Med Pharmacol Sci 2021 May;25(9):3519-3529. doi: 10.26355/eurrev_202105_25834. PMID: 34002826
Immune reconstitution inflammatory syndrome in patients starting antiretroviral therapy for HIV infection: a systematic review and meta-analysis.
Müller M, Wandel S, Colebunders R, Attia S, Furrer H, Egger M; IeDEA Southern and Central Africa
Lancet Infect Dis 2010 Apr;10(4):251-61. doi: 10.1016/S1473-3099(10)70026-8. PMID: 20334848Free 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.

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...