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Journal of Pediatric Neurology 2018; 16(05): 288-296
DOI: 10.1055/s-0038-1667178
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Blue Rubber Bleb Nevus Syndrome

Federica Sullo
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Angela D'Ambra
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Andrea D. Praticò
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
2   Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
,
Agata Polizzi
3   Institute of Neurological Sciences, National Research Council, Catania, Italy
,
Maria Teresa Garozzo
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Flavia La Mendola
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Concetta Pirrone
4   Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
,
Elena Commodari
4   Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
,
Carmelo Schepis
5   Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy
,
Francesco Lacarrubba
6   Dermatology Clinic, University of Catania, Catania, Italy
,
Giuseppe Micali
6   Dermatology Clinic, University of Catania, Catania, Italy
,
Enrica Quattrocchi
6   Dermatology Clinic, University of Catania, Catania, Italy
,
Antonio Zanghì
7   Department of Medical and Surgical Sciences and Advanced Technology “G. F. Ingrassia,” University of Catania, Catania Italy
,
Martino Ruggieri
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
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Publikationsverlauf

07. Januar 2018

05. Mai 2018

Publikationsdatum:
20. August 2018 (online)

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Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder characterized by multifocal venous malformations mainly of the skin, soft tissue, and gastrointestinal tract. However, it may occur in any tissue including the nervous system. This syndrome most commonly occurs sporadically but can be associated with an autosomal dominant inheritance. Among the cases reported in the literature, the female/male ratio was ∼1:1. The diagnosis of BRBNS is based on the presence of characteristic cutaneous lesions with or without gastrointestinal bleeding and/or the involvement of other organs. Typical skin manifestations consist of soft, easily compressive, bluish papules similar to rubber-like nipples. Aside the skin, vascular lesions are usually found in the gastrointestinal tract, anywhere from the oral to the anal mucosa, but predominantly in the small bowel. Endoscopy provides the opportunity to treat and diagnose the lesions. BRBNS should be differentiated from hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome), Klippel–Trenaunay syndrome, and Maffucci syndrome. The prognosis of BRBNS depends on which organs are involved and the extent of involvement. Most patients can live a long life with the disease, but the quality of life is limited due to gastrointestinal bleeding, oral drug therapy, and blood transfusions. Sudden massive gastrointestinal hemorrhage remains the most frequent cause of death. No curative therapy is currently available for this syndrome. The cutaneous lesions are usually asymptomatic and do not require treatment. The most important clinical problem is the management of acute or chronic bleeding from the multiple gastrointestinal venous malformations: a conservative approach should be instituted whenever the clinical features and the bleeding episodes are mild and only in a life-threatening situation surgery may be required. In the recent years, however, molecular targeted therapy with the mammalian target of rapamycin inhibitor sirolimus has been anecdotally employed with reduction in bleeding and shrinkage of vascular malformations.

Keywords

blue rubber bleb nevus - syndrome - dermatology - extracutaneous lesions - gastrointestinal bleeding - hemorrhage - sirolimus