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Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

Disease definition

A rare lymphatic system anomaly characterized by 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, 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.

ORPHA:464321

Classification level: Disorder
  • Synonym(s):
    • Cutaneovisceral angiomatosis-thrombocytopenia syndrome
    • MLT
    • Multifocal lymphangioendotheliomatosis with thrombocytopenia
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Infancy
  • ICD-10: D18.1
  • OMIM: -
  • UMLS: C5575322
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.