Sirolimus in blue rubber bleb naevus syndrome: A systematic review.

The aim of this study is to review sirolimus as a treatment for blue rubber bleb naevus syndrome (BRBNS). A literature search of Medline, Embase, CINAHL, SCOPUS and Google Scholar was conducted for publications reporting treatment of patients with BRBNS with sirolimus. Of 46 articles identified, 17 studies reporting 23 patients met inclusion criteria. Sirolimus was well tolerated in all but one patient who required treatment cessation; 17/18 patients noted an improvement in gastrointestinal disease where this was reported; 21/22 patients noted an improvement in cutaneous disease where this was reported. Based on these results, sirolimus may be considered a first-line treatment of BRBNS depending on patient morbidity.

[Intramedullary melanocytoma: a clinical case report and literature review]. / Intramedullyarnaya melanotsitoma: opisanie klinicheskogo nablyudeniya i obzor literatury.

The paper describes a rare clinical case of intramedullary melanocytoma, provides a detailed description of a pathomorphological study, and addresses the issues of differential diagnosis and surgical treatment.

A Melanocytic Lesion Extending From the Right Ear to the Nasopharynx in a Pediatric Patient: A Case Report.

BACKGROUND: Blue nevus is a benign dermal melanocyte tumor that mainly arises from the skin. We report an extremely rare case of blue nevus in a pediatric patient with extensive progression from the middle ear and inner ear to the nasopharynx through the Eustachian tube. CASE REPORT: A 2-year-old girl with blue tympanum was referred to our department. Computed tomography scans and magnetic resonance imaging were performed, followed by a tissue biopsy and histopathologic evaluations. Radiologic examinations revealed that the lesion had progressed beyond the middle ear into the inner ear and the nasopharynx through the Eustachian tube. Subsequent histopathologic examinations indicated dermal dendritic melanocytic proliferations, but no evidence of malignancy. Based on the clinical and histopathologic findings, we concluded that the lesion was consistent with blue nevus. DISCUSSION: Blue nevus is a relatively common skin lesion. However, no prior reports have described the extension of blue nevus from the auditory organ to the nasopharynx in a pediatric patient. Despite the benign nature of the lesion, the patient experienced profound hearing loss in the affected ear, which necessitates continued monitoring as the lesion may expand with patient growth.

Orbital Varix Thrombosis and Review of Orbital Vascular Anomalies in Blue Rubber Bleb Nevus Syndrome.

A 57-year-old woman with cutaneous manifestations of (BRBNS) presented with acute left proptosis and venous congestion secondary to thrombosis within a superior ophthalmic vein varix. Multiple phleboliths were noted in the contralateral right orbit, and an incidental right middle cerebral artery aneurysm. Her symptoms spontaneously resolved within a few days. An English literature review found 7 reported cases of orbital vascular lesions in association with BRBNS from 1950 to 2012. All lesions showed contrast enhancement on CT or MRI: 4 had small orbital calcifications and 3 were distensible with raised venous pressure. The occurrence of a thrombosed orbital varix or cerebral artery aneurysm in BRBNS, to the best of the authors' knowledge, has not been previously reported. Although orbital vascular lesions in BRBNS have been described as hemangiomas, the biologic behavior and histology of most of the reported orbital lesions are most compatible with venous malformations.

Blue rubber bleb nevus syndrome: endobronchial involvement presenting as chronic cough.

This case report describes a rare presentation of chronic cough secondary to endobronchial involvement with blue rubber bleb nevus syndrome (BRBNS) lesions. BRNBS is a rare syndrome characterized with cavernous hemangiomas involving the skin and GI tract. We report the case of a 37-year-old woman, with known BRBNS, who acquired an intractable cough with a radiograph revealing multiple pulmonary nodules. A bronchoscopy demonstrated various bluish, raised, and hypervascular lesions characteristic for BRBNS involving the right mainstem bronchus and segmental bronchi. To our knowledge, this is the first report of endobronchial involvement with BRBNS.

Blue rubber bleb nevus syndrome: a cause for recurrent episodic severe anemia.

A 7-year-old boy had several episodes of severe anemia, requiring hospitalizations and blood transfusions. Skin hemangiomas characteristic of blue rubber bleb nevus syndrome were present since infancy, but were not recognized as being indicative of simultaneous existence of bowel hemangiomas, resulting in a delay of several years before an accurate diagnosis could be made.

Nevo azul combinado gigante: relato de caso / Combined ble nevus: a case report

Relato de caso de nevo azul do tipo combinado em paciente de 47 anos de idade, do sexo feminino, que apresentava grande massa tumoral localizada na regiäo occipital. A designaçäo nevo azul combinado reporta-se a raros casos que apresentam superposiçäo de aspectos microscópicos de nevo azul e nevo melanocítico

Blue rubber bleb nevus syndrome: report of a case.

A case of blue rubber bleb nevus syndrome (BRBNS) in a 17-year old boy with multiple cutaneous and gastrointestinal hemangiomas is presented. The patient had iron deficiency anemia and pica. In addition, we describe, for the first time, left renal artery, right hepatic artery, and ureteral abnormalities in a patient with BRBNS.