BRBNSBlue Rubber Bleb Nevus Syndrome
References in periodicals archive ?
The exact mechanism of action of sirolimus in BRBNS remains unclear, but proposed mechanisms of action include inhibition of ligand-binding-induced signaling through VEGFR-3 (vascular endothelial growth factor receptor-3) on lymphatic endothelial surface, which would normally result in activation of the PI3K/Akt/mTOR pathway [3, 5].
In conclusion, sirolimus may be used in management of patients with BRBNS. Our case report describes resolution of GI bleeding and obviation of the need for multiple blood transfusions following initiation of sirolimus therapy.
Abbreviations BRBNS: blue rubber bleb nevus syndrome GI: gastrointestinal mTOR: mammalian target of rapamycin ISSVA: International Society for the Study of Vascular Anomalies PI3K: phosphoinositide-3-kinase.
The patient was a 10-year-old boy with no family history of BRBNS. At birth no obvious abnormality was noted.
The diagnosis of BRBNS was established by clinical history physical appearance of cutaneous lesions imaging studies and the pathognomonic endoscopic appearance of the gastrointestinal lesions.
Endoscopic interventions such as argon plasma coagulation laser photocoagulation electrocauterization band ligation and sclerosis have been considered as playing a critical role in the treatment of BRBNS. However some endoscopists considered that the wall of small intestine is relatively thin and therefore suggested the endoscopic interventions such as argon plasma coagulation for lesions in small intestine should be prudent.7 In this case we chose to perform sclerotherapy with injection of lauromacrogol for the small intestinal lesions by enteroscopy.
Ayni aileden bircok bireyin etkilendigi BRBNS benzeri kutanoz, mukokutanoz, ve visseral lezyonlarin goruldugu bir ailede vaskuler malformasyon geni 9p kromozomunda haritalanmistir (3,7,8).
Cutaneous lesions are often apparent at birth or manifest in early childhood as multiple, protuberant, dark blue, compressible blebs which progress in size and number with advancing age.3 We report a case of BRBNS with cutaneous involvement in zosteriform distribution in an adult Kashmiri male, which is a rare presentation.
With a clinical diagnosis of co-existing blue rubber bleb nevus (BRBNS), diagnostic biopsy of the suspected BRBN lesions was taken simultaneously.
Blue rubber bleb nevus syndrome (BRBNS) was first described by Gascoyen in 1860 and in 1958, Dr.