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Systemic Diseases and the Skin
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Jana Kazandjieva, Razvigor Darlenski, Nikolai Tsankov
Management: Treatment of blue rubber-bleb nevus syndrome is largely symptomatic. The most important step is monitoring the evolution of gastrointestinal lesions and preventing severe bleeding. Various treatment options are sclerotherapy, laser surgery, and surgical excision. Sirolimus and the second generation of c-kit-specific inhibitors may prove to be helpful; however, the doses and treatment duration remain uncertain.
Small Intestinal Bleeding
Published in John F. Pohl, Christopher Jolley, Daniel Gelfond, Pediatric Gastroenterology, 2014
David M. Troendle, Bradley A. Barth
Vascular anomalies identified within the GI tract may be idiopathic (53.8) or part of a more global systemic disease. Blue rubber bleb nevus syndrome is a rare systemic disorder with both cutaneous and GI venous malformations that can present with occult or life-threatening GI bleeding. Klippel–Trenaunay syndrome is a capillary–lymphaticovenous malformation typically affecting the colon and pelvis but occasionally involving the small bowel as well. Osler–Weber–Rendu disease, or hereditary hemorrhagic telangiectasia, can present initially with obscure GI bleeding, but epistaxis or skin manifestations are more common initial findings.
Hemolymphangioma invasion of R scapula and mediastinum: a rare case report
Published in Pediatric Hematology and Oncology, 2022
Qianqian Ying, Shengzhi Cui, Kai Zhou, Ying Chen, Peng Wei, Qidong Ye
However, the pathogenesis of hemolymphangioma is unclear, and no optimal treatment strategy has been proposed. For instance, surgical resection is most effective when the tumor enlarges and puts pressure on the surrounding tissues.8 Besides, most cases have shown good clinical outcomes after tumor removal, and no study has reported any tumor recurrence. Herein, drug treatment was used because of the high-risk procedure and diffuse mass associated with surgery. Sirolimus is an mTOR inhibitor with strong immunosuppressive and antiproliferative properties. Besides being a therapeutic option for vascular anomalies,13 sirolimus can also improve pediatric lymphatic malformations.14,15 Yesil et al. and Lackner at al. reported that several pediatric patients with different vascular anomalies can improve after peroral sirolimus treatment.16,17 Salloum et al. also showed that sirolimus is safe and efficient in treating blue rubber bleb nevus syndrome (BRBNS).18 However, sirolimus has some common adverse effects, such as mucositis, neutropenia, and hypercholesterolemia changes.14–18 Herein, sirolimus was used to control the proliferation of lymphatic and blood vessels. In the present case, CT and ultrasound examinations showed that the tumor shrunk after treatment.
Clinical variability in multifocal lymphangioendotheliomatosis with thrombocytopenia: a review of the literature
Published in Pediatric Hematology and Oncology, 2021
Joshua Manor, Kalyani Patel, Ionela Iacobas, Judith F. Margolin, Priya Mahajan
The challenge of our highlighted case is promptly diagnosing MLT in a critically ill infant with multifocal, disseminated pulmonary, bone, GI and intramuscular lesions, active bleeding, normal platelets and minimal skin involvement at presentation. Differential diagnoses include other vascular conditions, such as blue rubber bleb nevus syndrome (BRBNS) and hereditary hemorrhagic telangiectasia (HHT). In both BRBNS and HHT, pathology shows dilated vascular spaces lined by a single layer of endothelial cells, which differs from MLT. Immunohistochemistry positive for lymphatic endothelium can indicate an etiology of vascular tumors, such as kaposiform hemangioendothelioma (KHE), although these lesions are very rarely multifocal23; or lymphatic malformations, which are typically strongly positive for D2-40. Multiple dark-red or bluish plaques can also be seen in Capillary Malformation–Arteriovenous Malformation (CMAVM) that can be associated with intracranial AVM,24 Multiple Cutaneous and Mucosal Venous Malformations (VMCM), which may involve the GI tract, or glomuvenous malformations, which are usually confined to the extremities.25 However, these entities involve capillary or venous malformations without lymphatic involvement, and specific genetic pathogenic variants can be found in majority of cases (pathogenic variants in RASA1 and EPHB4, TEK, and GLML genes for CMAVM, VMCM, and glomuvenous malformations, respectively).
Blue rubber bleb nevus syndrome of the orbit and gastrointestinal tract
Published in Orbit, 2020
Stephen C. Dryden, Adrianna E. Eder, Andrew G. Meador, James C. Fleming, Brian T. Fowler
A 14-year-old female with a history of blue rubber bleb nevus syndrome (BRBNS) with gastrointestinal (GI) manifestations requiring previous endoscopy and bowel resection (Figure 1a,b) presented with frontal headaches and intermittent pain with eye movement. Examination was unremarkable with normal visual acuity, motility, and symmetric globe position without proptosis. An MRI was ordered due to the patient’s headaches which showed large right lobulated extraconal superomedial (Figure 2a) and inferolateral (Figure 2b) orbital masses with precontrast hypointensity and postcontrast hyperintensity (Figure 2c) consistent with a venous malformation. Due to her unremarkable examination and lack of orbital signs, the decision was made to observe with serial follow-up. BRBNS is a disease that presents with an initial dominant lesion followed by multiple skin, soft tissue, central nervous system, and GI tract venous malformations. Orbital involvement (as a venous malformation) is uncommon in patients with BRBNS, occurring in approximately 5% of reported cases. Activating mutations in the angiopoietin receptor TIE2/TEK on chromosome 9p have been implicated as a potential cause of BRBNS. Morbidity is usually related to GI lesions, which can cause bleeding and chronic anemia. Current medical treatment for BRBNS is pharmacologic: anticholinergic agents, beta-blockers, sirolimus, interferon-alpha, and corticosteroids or surgical: polypectomy, band ligation, clipping, argon plasma coagulation, and Nd:YAG photocoagulation. Orbital treatment is accomplished via a combination of endovascular embolization and surgical excision.