Blue rubber bleb nevus syndrome

Abstract

The blue rubber nevus syndrome consists of multiple venous malformations in the skin and gastrointestinal tract associated with intestinal hemorrhage and iron deficiency anemia. Other organs may be involved. The causes of this syndrome are unknown. Its most common presentation is in the form of sporadic cases, but dominant autosomal inheritance has been described. It is a condition that affects both sexes equally, and its occurrence is rare in the black race. We present a case of this syndrome diagnosed in a 11-year-old patient. He had severe anemia and a venous swelling on the trunk. Similar lesions were found in the stomach, bowel, and on his foot. We emphasize the main clinical aspects: intestine, eyes, nasopharynx, parotids, lungs, liver, spleen, heart, brain, pleura, peritoneum, pericardium, skeletal muscles, bladder, and penis lesions, systemic complications that may occur to these patients which are thrombosis and calcification, as well as consumptive coagulopathy and thrombocytopenia that may occur within the nevi.

Blue rubber bleb nevus syndrome: Prominent oral findings

“…[1,2,4,5,8] Ventricular hypertrophy associated with BRBNS has been reported as seen in our case. [1] The differential diagnosis includes Maffucci syndrome, Venous lakes, Osler Weber Rendu syndrome or hereditary hemorrhagic telengiectasias, disseminated hemangiomatosis and Kaposis sarcoma.…”

“…[1] Recent analysis has identified a locus on chromosome nine responsible for venous malformations. [2] Cutaneous lesions are often apparent at birth and increase in number from few to hundreds with age, present predominantly on the upper limbs and trunk [1,3,5] In our case, lesions started in early childhood and increased in number to 21. Three types of cutaneous lesions have been described: (1) blue, rubbery, blood-filled sacs with a smooth or wrinkled surface that are easily compressible and promptly refill when pressure is released; (2) large, disfiguring, cavernous lesions that may compress vital structures; and (3) blue irregular macules.…”

“…[1] The differential diagnosis includes Maffucci syndrome, Venous lakes, Osler Weber Rendu syndrome or hereditary hemorrhagic telengiectasias, disseminated hemangiomatosis and Kaposis sarcoma. [5,9,10] Both sonography and MRI can confirm the nature of individual cutaneous venous malformations. Doppler interrogation can confirm the low-flow nature of the Suma, et al…”

Congenital Anomalies and Malformations of the Vasculature

“…There is often a diffuse, mild, consumptive coagulopathy. 117 BRBNS can be considered a particular manifestation of venous malformation that has been shown to be either sporadic or familial. In the latter, it is inherited in an autosomal dominant fashion.…”

Blue Rubber-Bleb Nevus Syndrome which was Associated with an Atrial Septal Defect: A Case Report

“…Anti-angiogenic treatments and endoscopic sclerotherapy and coagulation have been reported as the non surgical interventions [2,5]. Surgical resection of the lesions is rarely successful…”