Search Our Scientific Publications & Authors

Biomedicines 2022 Jun 20;10(6). Epub 2022 Jun 20.

Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes-mainly regulating the RAS/MAPK/ERK and PI3K/AKT/mTOR pathways. We performed a cross-sectional study of 43 patients affected with sporadic VMs, who had received molecular diagnosis by high-depth targeted next-generation sequencing in our center. Clinical and imaging features were correlated with the sequence variants identified in lesional tissues. Read More

Case Rep Pediatr 2022 24;2022:8245139. Epub 2022 May 24.

Department of Pediatrics, Mohammed VI University Hospital, Oujda, Morocco.

Bean syndrome (BS) or blue rubber bleb nevus syndrome is a rare clinical entity characterized by venous malformations mainly in the skin and digestive tract, whose hemorrhagic complications can be life threatening. We report a case of Bean syndrome in a 3-year-old child of nonconsanguineous parents, in whom the diagnosis of miliary hemangiomatosis was initially made in view of a huge mass on the left thigh, taking the knee, and then the progressive appearance of a skin disorder with bluish swellings of variable sizes spread over the whole body. The patient was put on beta-blockers but without improvement. Read More

Oxf Med Case Reports 2022 May 23;2022(5):omac045. Epub 2022 May 23.

Department of Dermatology and Venereology, Damascus University, Damascus, Syria.

The rare syndrome of Blue Rubber Bleb Nevus is known to be causing skin vascular lesions in the form of bluish papules, called blue nevi and the movable rubber-like consistency soft tissue masses. The syndrome frequently involves digestive system besides other visceral organs such as liver, lungs, thyroid gland, spleen and nervous system. We present a case of a 36-year-old female with Blue Rubber Bleb Nevus that involved skin and musculoskeletal system. Read More

SAGE Open Med Case Rep 2022 11;10:2050313X221097755. Epub 2022 May 11.

Department of Obstetrics and Gynecology, St. Joseph Mercy Hospital and Mercy Women's Center, Pontiac, MI, USA.

Blue rubber bleb nevus syndrome is a very rare systemic vascular malformation frequently affecting the skin and the gastrointestinal tract. The pathogenesis of the disease is still unclear, and the standard treatment does not exist. This study reports two blue rubber bleb nevus syndrome cases, of which the second patient received the gene mutations detection and got a low-dose sirolimus therapy, compared with the first patient who was not treated with sirolimus. Read More

Am Surg 2022 Apr 17:31348221084949. Epub 2022 Apr 17.

Department of Pediatric Surgery, 14423Arkansas Children's Hospital, Little Rock, AR, USA.

Blue Rubber Bleb Nevus Syndrome is a congenital rarity that manifests as vascular malformations throughout the body, including the gastrointestinal tract. With fewer than 300 cases reported, the etiology and clinical course is poorly understood; however, the literature suggests mutations on chromosome 9 result in unregulated angiogenesis. We present the case of a young female treated for anemia of unknown etiology who presented in hemorrhagic shock due to gastrointestinal hemorrhage necessitating small bowel resection, with cutaneous, intestinal, hepatic, and lingual vascular malformations associated with a single somatic pathologic mutation. Read More

J Neurosurg Spine 2022 Apr 1:1-7. Epub 2022 Apr 1.

1Division of Vascular and Interventional Radiology.

Objective: Clinical manifestations of blue rubber bleb nevus syndrome (BRBNS) and multifocal venous malformation (MVM) vary depending on the location of the lesions. The aim of this study was to assess the risk of developing CSF leaks in patients with epidural venous malformations (VMs).

Methods: The authors retrospectively investigated the relationship between the development of a CSF leak and the presence of epidural VMs. Read More

Ophthalmic Plast Reconstr Surg 2022 Mar 30. Epub 2022 Mar 30.

Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee.

A male neonate presented with an isolated congenital right orbital vascular malformation without other mucocutaneous lesions or signs/symptoms of systemic disease. The orbital mass was progressive, causing amblyogenic ptosis by 6 months of age. Over 11 years, the patient underwent 4 orbital mass resections, 3 embolizations, and even a craniotomy with mass resection for an intraorbital meningoencephalocele secondary to orbital bony erosion. Read More

J Pak Med Assoc 2022 Feb;72(2):349-353

Department of Paediatrics & Child Health, The Aga Khan University Hospital, Karachi, Pakistan.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder in which there is development of multiple venous malformations and haemangiomas in the skin and visceral organs. The lesions mostly involve the skin and gastrointestinal systems but other organs, including the liver, muscles, and the central nervous system, can also be involved. If untreated, affected individuals develop severe anaemia. Read More

Case Rep Womens Health 2022 Apr 9;34:e00403. Epub 2022 Mar 9.

Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynecology, Henry Ford Hospital, Detroit, MI, United States of America.

Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder characterized by recurrent, multifocal venous malformations throughout the skin, soft tissue, and numerous internal organs. Pregnant women with BRBNS are at high risk of morbidity and mortality, and thus their care requires careful planning and surveillance. This report highlights the case of a 21-year-old woman, gravida 1, para 0, with BRBNS who was cared for by a multidisciplinary team of providers in obstetrics, maternal-fetal medicine, obstetric anesthesia, hematology, dermatology, gastroenterology, and otorhinolaryngology. Read More

Transl Gastroenterol Hepatol 2022 25;7:12. Epub 2022 Jan 25.

Gastroenterology and Hepatology Division, Internal Medicine Department, University of Tennessee Health Science Center, Memphis, TN, USA.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease that presents as cutaneous and extra-cutaneous vascular malformations, most commonly affecting the gastrointestinal (GI) tract. We report a case of adult onset BRBNS in an African American male with vascular lesions isolated to the jejunum without any cutaneous manifestations. Physicians should recognize that BRBNS can present without skin involvement and may have complications from visceral organ involvement. Read More

GE Port J Gastroenterol 2022 Jan 3;29(1):73-74. Epub 2021 Feb 3.

Department of Gastroenterology, Centro Hospitalar Lisboa Ocidental, Hospital de Egas Moniz, Lisbon, Portugal.

Rev Esp Enferm Dig 2022 04;114(4):243-244

Internal Medicine, Hospital Santo Espírito da Ilha Terceira, Portugal.

Bean syndrome or blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by venous malformations (VM) of the skin, soft tissues and visceral organs, most frequently affecting the gastrointestinal (GI) tract. BRBNS is mainly sporadic but can be inherited in an autosomal pattern. The most common symptoms are GI bleeding and secondary iron deficiency anemia. Read More

Transl Pediatr 2021 Nov;10(11):2960-2971

Department of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Background: Blue rubber bleb nevus syndrome is a rare congenital disease characterized by multiple venous malformations in skin and gastrointestinal tract, not all patients have typical cutaneous lesions, refractory anemia may be the only clinical symptom, it is easy to miss diagnosis.

Methods: A retrospective single center study was conducted on 8 patients with blue rubber bleb nevus syndrome from 2009 to 2021. Data were analyzed including clinical feature, diagnostic workup and results, gene detection, treatment and follow-up. Read More

Middle East J Dig Dis 2021 Apr 29;13(2):153-159. Epub 2021 May 29.

Digestive Diseases Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder comprised of venous malformation mostly involving the skin and gastrointestinal (GI) tract but can also involve other visceral organs. The most predominant site of GI tract involvement is the small bowel. In patients with GI lesions, treatment depends on the severity of bleeding, and extent of involvement. Read More

Pol J Pathol 2021 ;72(2):190-194

Department of Pathomorphology, Centre of Medical Postgraduate Education, Warsaw, Poland.

BRBNS is a rare syndrome of vascular malformations caused by the TEK mutation associated with numerous lesions of the skin and gastrointestinal tract. We present a case report of 41 year old man with severe anemia with recurrent bleedings. The detailed clinical, endoscopical and histopathological description is given as a wide range of differential diagnosis of vascular lesions based on pathophysiology and updated classification of vascular lesions. Read More

Dermatopathology (Basel) 2021 Oct 15;8(4):477-493. Epub 2021 Oct 15.

Department of Dermatology, Great Ormond Street Hospital for Children and UCL GOS Institute of Child Health, London WC1N 3JH, UK.

Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations. This has led us to better understand the pathogenesis of vascular lesions, refine their diagnosis and update their classification while also exploring the opportunity for a targeted molecular treatment. This paper aims to provide an overview of venous malformations (VM) in childhood. Read More

J Vasc Surg Cases Innov Tech 2021 Dec 22;7(4):634-635. Epub 2021 Jul 22.

Department of Vascular Surgery, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.

Ann Vasc Dis 2021 Sep;14(3):252-255

Department of Hematology, Kanazawa University Hospital, Kanazawa, Ishikawa, Japan.

A 54-year-old Japanese man was diagnosed with blue rubber bleb nevus syndrome (BRBNS) due to venodilation in the lower extremities at birth and gastrointestinal vascular malformations. He also had small bowel bleeding and enhanced-fibrinolytic-type disseminated intravascular coagulation (DIC). Endoscopic sclerotherapy for intestinal hemangioma could not be performed because of bleeding concerns; instead, a combined anticoagulant and antifibrinolytic treatment was performed. Read More

Case Rep Dermatol 2021 May-Aug;13(2):417-421. Epub 2021 Jul 29.

Department of Dermatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Blue rubber bleb nevus syndrome (BRBNS) is a rare multifocal venous malformation (VM) that may affect any tissue or organ but mainly affects the skin, subcutaneous tissue and gastrointestinal (GI) tract. Patients present with serious anemia, treated with lifelong iron supplements and frequent blood transfusion secondary to chronic GI bleeding. Variable therapeutic modalities were used in the management of BRBNS; sirolimus (SRL), a mammalian target of rapamycin (mTOR) inhibitor, is found to be a promising therapy for vascular anomalies. Read More

Case Rep Gastrointest Med 2021 17;2021:9992111. Epub 2021 Sep 17.

Department of Internal Medicine, Medical College of Wisconsin, Wauwatosa, WI 53226, USA.

Blue Rubber Bleb Nevus Syndrome (BRBNS), also known as Bean Syndrome, is a rare condition characterized by vascular ectasias that typically present systemically. Most diagnoses are made in early childhood due to cutaneous lesions in Caucasians with familial inheritance. Treatment is usually patient centered due to the wide variance in clinical presentation of the disease. Read More

Dermatopathology (Basel) 2021 Aug 17;8(3):390-417. Epub 2021 Aug 17.

Department of Dermatology, Necker-Enfants Malades Hospital, APHP, 75015 Paris, France.

Multiple papulonodular skin lesions at birth can indicate the presence of various benign and malignant disorders. Although the lesions' clinical aspect (color and consistency, in particular) may steer the clinician towards one disorder or another (infantile myofibromatosis, xanthogranuloma, or metastatic neuroblastoma), the diagnosis can only be confirmed by the histopathologic assessment of a biopsy. In neonates, a rapid but accurate diagnosis is critical because skin lesions may be the first manifestation of a malignant disorder like leukemia cutis or metastatic neuroblastoma. Read More

World J Clin Cases 2021 Aug;9(23):6929-6934

Department of Neonatal Surgery, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310000, Zhejiang Province, China.

Background: Blue rubber bleb naevus syndrome (BRBNS) is a rare disease that usually presents with multiple venous malformations in the skin and gastrointestinal tract. Lesions located in the gastrointestinal tract always result in chronic gastrointestinal bleeding and severe anemia. The successful management of BRBNS with sirolimus had been reported in many institutions, due to its impact on signaling pathways of angiogenesis. Read More

A A Pract 2021 Aug 23;15(8):e01517. Epub 2021 Aug 23.

From the Department of Perioperative Medicine and Intensive Care, Karolinska University Hospital, Stockholm, Sweden.

Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic syndrome characterized by venous malformations usually found in the skin and visceral organs. To date, 11 case reports describing BRBNS during pregnancy have been published. To our knowledge, this is the first report describing intracranial, airway, epidural, and birth canal involvement of venous malformations in the same parturient. Read More

J Pediatr Gastroenterol Nutr 2021 Nov;73(5):e120

University of Liverpool.

Case Rep Ophthalmol 2021 May-Aug;12(2):451-456. Epub 2021 May 19.

Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.

Blue rubber bleb nevus syndrome (BRBNS) is a rare syndrome characterized by venous malformations of mostly skin and gastrointestinal tract. Patients present with multiple venous malformations in various organs including liver, spleen, heart, eye, and central nervous system. Few ophthalmological cases have been published in literature and at present, there are no clear guidelines on the treatment of eye hemorrhages associated with the BRBNS. Read More

Radiol Case Rep 2021 Aug 8;16(8):2003-2006. Epub 2021 Jun 8.

Universidad Industrial de Santander, Bogotá D.C.

Blue Rubber Bleb Nevus Syndrome, is a rare condition characterized by skin lesions caused by vascular malformations most frequently associated with lesions of the gastrointestinal tract, although rare, it can present with lesions in the central nervous system, thyroid, liver, spleen and lungs; common symptoms are: digestive tract bleeding and iron deficiency anemia. The main manifestation are skin lesions that are characterized by being button-like, with a bluish tint, covered by skin, called blue nevus with a rubbery consistency due to its rubber-like consistency. We present a case of Blue Rubber Bleb Nevus Syndrome with involvement in the central nervous and gastrointestinal systems. Read More

ANZ J Surg 2021 10 14;91(10):2199-2200. Epub 2021 Jun 14.

Department of Gastrointestinal Surgery, West China Hospital, Sichuan University, Chengdu, China.

Intestinal resection surgery for multiple intestinal vascular malformations in the blue rubber bleb nevus syndrome is traumatic and time-consuming. This study and Video S1 introduce a novel vascular malformation suture method to manage this problem without bowel resection. Read More

Ear Nose Throat J 2021 Apr 28:1455613211013078. Epub 2021 Apr 28.

Department of Oral and Maxillofacial Sciences, 9311Sapienza University of Rome, Roma, Italy.

J Vasc Surg Venous Lymphat Disord 2021 11 17;9(6):1588-1596. Epub 2021 Apr 17.

Department of Vascular Surgery, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China. Electronic address:

Objective: An inferior vena cava (IVC) aneurysm is a rare but potentially life-threatening entity. We successfully embolized an IVC aneurysm in a patient with history of blue rubber bleb nevus syndrome, a rare syndrome with multiple venous malformations. This new case was added to a literature review of previously reported cases, to analyze the management algorithm. Read More

Int J Dermatol 2021 Oct 13;60(10):1248-1252. Epub 2021 Apr 13.

Department of Dermatology, Hospital Universitario Virgen del Rocio, Sevilla, Spain.

Background: Digital clubbing is a well-known clinical sign characterized by thickening of the distal phalanges of the fingers and toes. Unilateral clubbing occurs less frequently. A previous report showed for the first time two cases of unilateral clubbing as a clinical manifestation of lower limb venous malformation. Read More