Sirolimus in blue rubber bleb naevus syndrome: A systematic review

Wong, Xin Lin; Phan, Kevin; Bandera, Ana Isabel Rodríguez; Sebaratnam, Deshan F

doi:10.1111/jpc.14345

Cited by 28 publications

(29 citation statements)

References 23 publications

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“…Minor or intermittent bleeding may be conservatively managed with iron supplementation or blood transfusions 14,15 . Recently, mTOR inhibitors have shown promising results in the management of complicated vascular anomalies 17,18 . Yuksekkaya et al reported the use of low‐dose sirolimus to successfully treat a child with BRBNS and recurrent GI bleeding 19 .…”

Section: Discussionmentioning

confidence: 99%

Cutaneous venous malformations as a clue for possible gastrointestinal tract involvement: Diagnosis and treatment of six cases

Diociaiuti

Rotunno

Caldaro

et al. 2021

Dermatologic Therapy

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Venous malformation (VM) is the most common type among vascular malformations classified by the International Society for the Study of Vascular Anomalies. Most VMs are sporadic (94%), caused in 40% of cases by somatic mutation of TEK gene. VMs can be cutaneous, visceral, or combined. Visceral involvement is rare, and gastrointestinal (GI) tract is the most common localization. Visceral VMs, usually asymptomatic, may manifest with bleeding, anemia, and consumptive coagulopathy, which sometimes require an emergency treatment. Our aim is to study the possible GI involvement in patients with only one cutaneous VM. We analyzed a series of six patients who presented with a single cutaneous VM and have subsequently manifested intestinal involvement at our reference center for vascular anomalies since 2010. In our patients, cutaneous VMs were located on lower or upper limbs, and GI involvement manifested from 3 to 10 years after skin diagnosis. Our experience urges to early diagnose a GI involvement also in patients with only one skin VM and to prevent severe complications. A multidisciplinary approach is mandatory for the diagnosis and treatment of these patients.

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Section: Discussionmentioning

confidence: 99%

Cutaneous venous malformations as a clue for possible gastrointestinal tract involvement: Diagnosis and treatment of six cases

Diociaiuti

Rotunno

Caldaro

et al. 2021

Dermatologic Therapy

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“…Medical management with sirolimus was initiated at the time of diagnosis to limit the frequency and severity of future gastrointestinal bleeds, which are almost ubiquitous in patients with BRBNS. 6 Sirolimus interferes with the function of mammalian target of rapamycin, inhibiting the mammalian target of rapamycin–mediated signal-transduction pathways, thereby resulting in the arrest of cell cycle in G1 phase in various cell types. 7 Aggressive surgical debulking of the large posterior trunk venous malformation was required to definitively treat the patient’s consumptive coagulopathy.…”

Section: Discussionmentioning

confidence: 99%

Keystone Flap Reconstruction after Resection of a Large Paraspinal Venous Malformation in an Infant

Parus

Waler

Westmoreland

et al. 2020

Plastic and Reconstructive Surgery - Global Open

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Summary: The keystone flap is well known to plastic surgeons and is frequently utilized for its ease of implementation, limited donor site morbidity, and favorable aesthetic outcomes. Although keystone flaps have been described in reconstruction of myelomeningocele defects, there have been no reports of their application to infants with large vascular malformations. This case illustrates the utilization of a keystone flap in reconstruction of a large posterior trunk defect that resulted from excision of a massive venous malformation in an 8-week-old infant with blue rubber bleb nevus syndrome. The patient’s consumptive coagulopathy resolved in the early postoperative period, and long-term follow-up demonstrated a favorable aesthetic outcome. This case reiterates the power and versatility of the keystone flap technique through its novel application to an infant with a life-threatening venous malformation on the posterior trunk.

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“…Anecdotal evidence suggests the superficial malformations are less responsive to sclerotherapy than typical VMs. Sirolimus appears to have a role in managing symptomatic gut lesions (Wang et al 2020;Wong et al 2019).…”

Section: Blue Rubber Bleb Naevus Syndrome (Brbns)mentioning

confidence: 99%

Vascular anomalies: special considerations in children

Gibson

Barnacle

2020

CVIR Endovasc

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The diagnosis and treatment of vascular anomalies are a large part of the caseload for paediatric interventional radiologists. Although many of the principles of sclerotherapy and embolisation are the same in adult and paediatric practice, there are some key differences in the approach for children, including some longer term thinking about managing these chronic diseases and their impact on a growing child. Vascular tumours are not often seen in adult IR practice and the rarest can be life threatening; knowledge of the commonest types and the role IR can play in their management can be instrumental in ensuring that children get appropriate treatment in a timely manner. Vascular anomalies also encompass some conditions associated with complex overgrowth, a subject that often causes confusion and uncertainty for interventional radiologists. This paper presents a simplified and practical approach to this spectrum of disease.

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Sirolimus in blue rubber bleb naevus syndrome: A systematic review

Cited by 28 publications

References 23 publications

Cutaneous venous malformations as a clue for possible gastrointestinal tract involvement: Diagnosis and treatment of six cases

Cutaneous venous malformations as a clue for possible gastrointestinal tract involvement: Diagnosis and treatment of six cases

Keystone Flap Reconstruction after Resection of a Large Paraspinal Venous Malformation in an Infant

Vascular anomalies: special considerations in children

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