Blue rubber bleb nevus syndrome

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Classification according to ICD-10
D18.0 Hemangioma, any location
ICD-10 online (WHO version 2019)

The Blue-Rubber-Bleb-Nevus-Syndrome , also called Blue-Rubber-Bladder- Syndrome or Bean-Syndrome , is characterized by multiple benign tumors of the blood vessels (so-called hemangiomatosis ) that occur in the skin and internal organs . It is not a hereditary disease, the genetic changes occur sporadically. The exact origin of the disease is currently unknown. The first description was in 1958 by the American internist (hepatologist) William Bennett Bean (1909-1989).

Diagnostic criteria and appearance

The blue rubber bleb nevus syndrome usually occurs congenitally or in early childhood. It is characterized by multiple deep blue lumps that can be found anywhere on the skin . The gummy consistency is responsible for the name. Cavernous hemangiomas are found histologically . These hemangiomas can also appear viscerally , i.e. in the intestines. The small intestine is most frequently affected , but other organs can also be affected.

There is no spontaneous improvement. A malignant degeneration does not occur. Nevertheless, the patients are often severely restricted due to the multiple infestation, CNS manifestations can lead to neurological problems, frequent bleeding leads to chronic anemia , and acute bleeding with fatal consequences also occurs.

literature

  • B. Leiber: The clinical syndromes: syndromes, sequences and symptom complexes. 8th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01707-4 and ISBN 3-541-01708-2 .
  • M. Betke, F. Eckert, W. Heldwein, R. Hein, M. Landthaler: Viscerocutaneous hemangiomatosis - the so-called blue rubber bleb nevus syndrome. In: The dermatologist . Journal of Dermatology, Venereology, and Allied Fields. Volume 42, No. 1, January 1991, pp. 23-27, ISSN  0017-8470 . PMID 2010283 .

Individual evidence

  1. ↑ Julie Soblet, Jaakko Kangas, Marjut Nätynki, Antonella Mendola, Raphaël Helaers: Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations . In: The Journal of Investigative Dermatology . tape 137 , no. 1 , January 2017, ISSN  1523-1747 , p. 207-216 , doi : 10.1016 / j.jid.2016.07.034 , PMID 27519652 .
  2. ^ WB Bean: Vascular Spiders and Related Lesions of the Skin . CC Thomas, Springfield, Illinois 1958, pp. 178-185 .
  3. ^ S. Satya-Murti, S. Navada, F. Eames: Central nervous system involvement in blue-rubber-bleb-nevus syndrome . tape 43 , 1986, pp. 1184-1186 .
  4. ^ SJ Kim: Blue rubber bleb nevus syndrome with central nervous system involvement . In: Pediatr Neurol . tape 22 , 2000, pp. 410-412 .

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