Multifocal lymphangioendotheliomatosis explained

Synonyms:Congenital cutaneovisceral angiomatosis with thrombocytopenia, multifocal lymphangioendotheliomatosis with thrombocytopenia

Multifocal lymphangioendotheliomatosis, also known as congenital cutaneovisceral angiomatosis with thrombocytopenia and multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT),[1] is a skin condition that presents at birth with hundreds of red-brown plaques as large as several centimeters.[2]

Signs and symptoms

This disease presents as diffuse reddish-brown, congenital cutaneous papules and plaques. Important additional findings include vascular lesions in the GI tract and possibly other organ systems. Severe gastrointestinal bleeding resulting from these lesions is likely and requires repeated blood transfusions. Serious cases of associated thrombocytopenia are frequently caused by localized intralesional platelet consumption.[3]

Patients with multifocal lymphangioendotheliomatosis typically have GI and cutaneous involvement, although there have also been reports of cases with no GI involvement[4] [5] as well as mild or delayed cutaneous involvement.[6] [7] Furthermore, reports of instances with normal platelet counts have been made.[8]

Diagnosis

Given the phenotypic variability, there are no established diagnostic criteria. Instead, the diagnosis is made based on clinical evidence and supporting histopathology that demonstrates the presence of positive lymphatic markers, such as podoplanin (D2-40) or lymphatic vessel endothelial hyaluronan receptor 1 (LYVE-1), as well as negative glucose transporter 1 (GLUT-1).[9]

Treatment

For multifocal lymphangioendotheliomatosis, there is no accepted course of care. Most cases of anemia and severe thrombocytopenia require numerous transfusions. In terms of medical therapy, corticosteroids, thalidomide, vincristine, propranolol, octreotide, aminocaproic acid,  bevacizumab,[10] and/or sirolimus[11] are available.[9]

See also

Further reading

External links

Notes and References

  1. Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 978-1-4160-2999-1 .
  2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. .
  3. Yeung . Jensen . Somers . Gino . Viero . Sandra . Pope . Elena . Multifocal lymphangioendotheliomatosis with thrombocytopenia . Journal of the American Academy of Dermatology . Elsevier BV . 54 . 5 . 2006 . 0190-9622 . 10.1016/j.jaad.2005.07.029 . S214–S217. 16631943 .
  4. Huang . Christina . Rizk . Elias . Iantosca . Mark . Zaenglein . Andrea L. . Helm . Klaus F. . Choudhary . Arabinda K. . Dias . Mark S. . Multifocal lymphangioendotheliomatosis with devastating intracranial hemorrhage . Journal of Neurosurgery: Pediatrics . Journal of Neurosurgery Publishing Group (JNSPG) . 12 . 5 . 2013 . 1933-0707 . 10.3171/2013.8.peds12604 . 517–520. 24053595 .
  5. Esparza . Edward M. . Deutsch . Gail . Stanescu . Luana . Weinberger . Edward . Brandling-Bennett . Heather A. . Sidbury . Robert . Multifocal lymphangioendotheliomatosis with thrombocytopenia: Phenotypic variant and course with propranolol, corticosteroids, and aminocaproic acid . Journal of the American Academy of Dermatology . Elsevier BV . 67 . 1 . 2012 . 0190-9622 . 10.1016/j.jaad.2011.08.020 . e62–e64. 22703922 .
  6. Shakir . Asiya K. . Yu . Zhongxin . Altaf . Muhammad Adnan . Long-term Complications and Management of Gastrointestinal Bleeding in Multifocal Lymphangioendotheliomatosis . Journal of Pediatric Hematology/Oncology . Ovid Technologies (Wolters Kluwer Health) . 41 . 8 . 2019 . 1077-4114 . 10.1097/mph.0000000000001324 . e534–e537. 30334900 .
  7. Com . Gulnur . Awad . Samah . Trenor . Cameron C. . Delayed Appearance of Cutaneous Lesions of Cutaneovisceral Angiomatosis (CAT) Leading to Misdiagnosis of Immune Thrombocytopenia . Journal of Pediatric Hematology/Oncology . Ovid Technologies (Wolters Kluwer Health) . 39 . 4 . 2017 . 1077-4114 . 10.1097/mph.0000000000000800 . e236–e239. 28234740 .
  8. Peña Merino . Lander . López Almaraz . Ricardo . Fernández de Larrinoa . Aitor . Rubio Lombraña . Marta . González-Hermosa . Maria Rosario . Multifocal lymphangioendotheliomatosis without thrombocytopenia or clinical signs of systemic bleeding . Pediatric Dermatology . Wiley . 36 . 6 . 2019-08-25 . 0736-8046 . 10.1111/pde.13959 . 965–966. 31448439 .
  9. Manor . Joshua . Patel . Kalyani . Iacobas . Ionela . Margolin . Judith F. . Mahajan . Priya . Clinical variability in multifocal lymphangioendotheliomatosis with thrombocytopenia: a review of the literature . Pediatric Hematology and Oncology . Informa UK Limited . 38 . 4 . 2021-02-27 . 0888-0018 . 10.1080/08880018.2020.1871135 . 367–377. 33641614 .
  10. Smith . Angela R. . Hennessy . Jane M. . Kurth . Margaret A. Heisel . Nelson . Stephen C. . Reversible skeletal changes after treatment with bevacizumab in a child with cutaneovisceral angiomatosis with thrombocytopenia syndrome . Pediatric Blood & Cancer . Wiley . 51 . 3 . 2008-05-20 . 1545-5009 . 10.1002/pbc.21597 . 418–420. 18493993 .
  11. Droitcourt . Catherine . Boccara . Olivia . Fraitag . Sylvie . Favrais . Géraldine . Dupuy . Alain . Maruani . Annabel . Multifocal Lymphangioendotheliomatosis With Thrombocytopenia: Clinical Features and Response to Sirolimus . Pediatrics . American Academy of Pediatrics (AAP) . 136 . 2 . 2015-08-01 . 0031-4005 . 10.1542/peds.2014-2410 . e517–e522. 26148948 .

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