[MIM 112 200]

(Bean syndrome,  cutaneous and digestive angiomatosis, Gascoyne syndrome)

Very rare. Most cases are sporadic but some familial cases, with probable autosomal dominant transmission have been observed. Somatic mutations of the TEK gene (9p21.2) coding for the TTE2 receptor of angiopoietin. Bluish small vascular malformations of venous origin (cavernous hemangiomas)  are distributed on the skin (0.1 to 2 cm in diameter, depressible into "rubber nipples") and inside the digestive tract (especially the small bowell). These lesions are usually present at birth but are very small at that time. They increase in size and number with age. They cause digestive bleeding (sometimes intussuception) which are a cause of chronic and sometimes fatal anemia (hemorrhage). Other organs can be affected: larynx, pharynx (10 %), eye, brain (malformation or arterio-venous fistula), bone marrow (cavernoma, angioma), pleura, lungs, kidneys and bones. Sometimes associated with one or more venous malformations.

If there is no digestive localisation, it is named multifocal venous malformations (MVM) or multiple cutaneous and mucosal venous malformation [MIM 600 195]

Some cases of CSF leak or duro-venous fistula due to a fragilization of the dura-mater (ectasias) with intracranial hypotension syndrome have been described in patients with epidural and/or paraspinal venous malformations (20 % of cases).

These lesions or associated vascular malformations can cause a coagulopathy by local consumption of platelets with thrombocytopenia which may paradoxically lead to thrombotic events in case of infection or prolonged immobilization.

Medical treatment: sirolimus ?  rapamycine ?

Surgical treatment of digestive involvement: laparotomy with  intraoperative enteroscopy to resect a maximum of lesions (NB: one reported case of air embolism during this procedure!).

Anesthetic implications: 

Chronic anemia, hematemesis, melena. Hemostasis evaluation: consumption coagulopathy (D-dimers) and thromboprophylaxis if D-dimers > 1000. Risk of pharyngeal or laryngeal angiomas: preoperative endoscopy. In case of oropharyngeal or laryngeal lesions, use a videolaryngoscope to visualize perfectly the intraoral lesions and avoid using a laryngeal mask. Prevent, as much as possible, cough at awakening and postoperative vomiting.  Preoperative MRI to detect pauci- or asymptomatic localizations. Risk of brain or spinal cord vascular malformation (be cautious in case of neuraxial block especially if thromboprophylaxis has been started). Deformations of the limbs in case of bone involvement.

References : 

• Hofhuis WJD, Oranje AP, Bouquet J, Sinaasappel M. 
  Blue rubber bleb naevus syndrome : report of a case with consumption coagulopathy complicated by manifest thrombosis. 
  Eur J Pediatr 1990 ; 149 : 526-8.

-         Malhotra P, Menoon MC, Anand SS, Narula A, Varma S. 
Haemopericardium in blue rubber bleb naevus syndrome (Bean syndrome). 
MJA 2008 ; 188 : 416 (letter)

-          Carvalho S, Barbosa V, Santos N, Machado E. 
Blue rubber-bleb nevus syndrome: report of a familial case with dural arteriovenous fistula. 
Am J Neuroradiol 2003; 24: 1916-8.

-         Gilbey LK, Girod CE. 
Blue rubber bleb nevus syndrome: endobronchial involvement presenting as chronic cough.
Chest 2003; 124: 760-3.

-         Fishman SJ, Smithers CJ, Folkman J, Lund DP et al. 
Blue rubber bleb syndrome: surgical eradication of gastrointestinal bleeding. 
Annals of Surgery 2005; 241: 523-8.

-         Thomas J, Groeper K, Fishman S. 
Anesthesia management for Blue Rubber Bleb Nevus syndrome. 
Abstract SPA meeting 2005: www.pedsanesthesia.org/meetings/2005/winter/mem/2005%20p98_Thomas.pdf

-         Holzman RS, Yoo L, Fox VL, Fishman SJ. 
Air embolism during intraoperative endoscopic localization and surgical resection for blue rubber bleb nevus syndrome. 
Anesthesiology 2005; 102: 1279-80.

-         Gonzalez-Pizarro P, Garcia-Fernandez J. 
Blue rubber bleb nevus syndrome : airway management. 
Pediatr Anesth 2010 ; 20 : 285-7.

-          Choi E, Landigan-Ossar M, Fishman SJ, Seefelder C. 
Exsanguination by intent : controlled phlebotomy during resection of a giant vascular malformation in a 22-month-old child. 
Pediatr Anesth 2011 ; 21 : 1159-62.

-          Yuksekkaya H, Ozbek O, Keser M, Toy H. 
Blue rubber bleb nevus syndrome : successful treatment with sirolimus. 
Pediatrics 2012; 129: e1080-4.

-         Kamat AS, Aliashkevich AF. 
Spinal cord compression in a patient with blue rubber bleb nevus syndrome. 
J Clin Neurosc 2013; 20: 467-9.

-         Robertson JO, Vanderlene LK, Utterson EC, White FV et al. 
Blue rubber bleb nevus syndrome without cutaneous manifestations : a rare presentation of chronic anemia. 
J Ped Surg Case Reports 2014 ; 2 : 70-2. 

-        Galey J, Bharadwaj S, Crimmins S, Hong CM, Malinow AM.
Anesthetic implications of an obstetric patient with blue rubber bleb nevus syndrome.
A A Case Rep. 2016;6:146–149.

-        Sullivan CA.
Blue Rubber Bleb Nevus Syndrome.
Anesthesiology 2018; 129: 1169

-        Aizawa M, Ishihara S, Yokoyama T.
Anesthetic considerations for rubber bleb nevus syndrome : a case report.
JA Clinical reports 2019; 5 :83

-        Hult M, Halldorsdottir H, Stjernholm YV, Hein A, Jörnvall H.
Blue rubber bleb nevus in the obstetric patient : a case report of anesthetic implications and management.
A&A Practice 2021; 15: e1517.

-        Alomari MH, Shahin MM, Fishman SJ, Ker CL, Smith ER, Eng W et al.
Cerebrospinal fluid leak in epidural venous malformations and blue reubber bleb nevus syndrome.
J Neurosurg Spine 2022 ; 37 :439-45

-        Chen  L-C, Yeung C-Y, Chang C-W, Lee H-C, Chan W-T, Jiang C.-B, Chang S-W.
Blue Rubber Bleb Nevus Syndrome (BRBNS): a rare cause of refractory anemia in children.
Children 2023 ; 10, 3. doi.org/10.3390/children10010003

Updated: February 2024