P1286 - A Rare Case of Blue Rubber Bleb Nevus Syndrome

Christopher Tanchez, DO¹, Pardeep Taunk, MD², Neera Sinha, MD³, John Trillo, MD^3
1Touro University, Brooklyn, NY; ²New York City Department of Health and Mental Hygiene, Brooklyn, NY; ³Coney Island Hospital, Brooklyn, NY

Introduction: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare disorder that classically presents with venous malformations that are found on the skin and visceral organs. It is mostly seen as a sporadic mutation but has been linked to an autosomal dominant inheritance pattern linked to Chromosome 9. We present a case of BRBNS found during a routine screening colonoscopy on an asymptomatic individual.

Case Description/Methods: A 61-year-old male with no significant medical history presented for a screening colonoscopy. The patient was asymptomatic and his labs were unremarkable. Colonoscopy revealed multiple blue-black nevi throughout the entire colon, with a greater concentration in the transverse colon and at the hepatic flexure (Figure 1). There were no procedural complications and no signs of bleeding were noted from the nevi sites.

Discussion: BRBNS can present with different clinical manifestations. According to a literature review done in 2014, out of 200 identified cases, 93% of cases involved cutaneous lesions and 87% of cases involved other organ systems. Diagnosis of BRBNS is made from physical exam findings. The most common location for these lesions are found on the superficial dermis. For gastrointestinal lesions, visualization with endoscopy is sufficient for diagnosis and a biopsy is not necessary. Our case is unique in that diagnosis of BRBNS was found indecently on routine colonoscopy and the patient had no other lesions noted on physical exam.
The exact mechanism of how these nevi form is poorly understood. BRBNS has been associated with an autosomal dominant mutation of the TEK gene found on chromosome 9. This gene is responsible for the expression of angiopoietin-1 receptors on endothelial cells and communication in venous morphogenesis. Mutations in the TEK gene may be what leads to these abnormalities and subsequent nevi formation.
Treatment varies based on the extent and location of the nevi. Asymptomatic cutaneous lesions do not require treatment. Gastrointestinal treatment depends on the symptoms of the patient and the severity of disease. Pharmacologic agents such as corticosteroids and interferon- alpha have been previously used for treatment without durable beneficial effects. Severe disease associated with bleeding should be treated with blood transfusions. Refractory disease may benefit from surgical resection of the affected bowel.
This case serves to show that BRBNS, although rare, can present in the gastrointestinal system without involvement of other organ systems.


Figure: Endoscopy showing multiple nevi in colon


Disclosures:
Christopher Tanchez indicated no relevant financial relationships.
Pardeep Taunk indicated no relevant financial relationships.
Neera Sinha indicated no relevant financial relationships.
John Trillo indicated no relevant financial relationships.


Christopher Tanchez, DO¹, Pardeep Taunk, MD², Neera Sinha, MD³, John Trillo, MD³. P1286 - A Rare Case of Blue Rubber Bleb Nevus Syndrome, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.