Lymphatic Malformation in Newborns as the First Sign of Diffuse Lymphangiomatosis: Successful Treatment with Sirolimus

Laforgia, Nicola; Schettini, F; Mattia, D. De; Martinelli, Domenico; Ladisa, Grazia; Favia, V.

doi:10.1159/000440939

Cited by 45 publications

(33 citation statements)

References 8 publications

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“…Swelling in the head and neck region can be associated with chewing disability, dysphagia and obstructive sleep apnea. Currently treatment with Sirolimus in diffuse lymphatic malformations in neonates and children is being evaluated with good clinical response and tolerability [24], [25].…”

Section: Resultsmentioning

confidence: 99%

Interdisciplinary Management of Head and Neck Vascular Anomalies: Clinical Presentation, Diagnostic Findings and Minimalinvasive Therapies

Sadick

Wohlgemuth

Huelse

et al. 2017

European Journal of Radiology Open

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ObjectivesVascular anomalies are included in the 30 000 rare diseases worldwide affecting less than 5/10 000 people. Depending on their morphology and biological properties, they can cause varied disorders with organ involvement. Almost 60% of vascular anomalies have a predilection for the head and neck region in children. Clinical and scientific effort to establish interdisciplinary management concepts for vascular anomalies is increasing worldwide.MethodsEspecially in the head and neck region, clinical impairment and organ dysfunction is associated with cosmetic issues that may represent a physical and psychological issue for the patient. Correct diagnosis, based on clinical presentation and symptoms, is a prerequisite for appropriate therapy, ranging from conservative management to a spectrum of minimally invasive treatment options. We searched PubMed for German and English language published data until December 2016 with focus on clinical studies, review articles and case reports on vascular anomalies with a focus on the head and neck region.ResultsThe last ISSVA update in 2014 has contributed to a better understanding of vascular anomalies, classifying them in vascular tumors and vascular malformations. The predominant representatives of vascular tumors are congenital and infantile hemangiomas. Infantile hemangiomas have the ability of spontaneous regression in more than 80%. Patients with symptomatic growing hemangiomas with ulcerations, bleeding complications and restriction of hearing, swallowing disorder, impairment of vision, or cosmetic dysfigurement require treatment. Therapies include oral propanolol, transcatheter embolization and surgery. Vascular malformations tend to progress with patientś age and are subdivided in slow flow and fast flow lesions. Symptomatic slow flow lesions, e.g. venous and lymphatic malformations, benefit from percutaneous sclerotherapy. Fast flow lesions, as arteriovenous malformations, are rare but undoubtedly therapeutically the most challenging vascular anomaly. Depending on location and size, they may require multiple transcatheter embolization procedures for successful occlusion of the AVM.ConclusionsThis review provides knowledge on the current ISSVA classification of vascular anomalies, their clinical presentation, diagnostic evaluation and minimally invasive therapy options to encourage the establishment of a comprehensive interdisciplinary management for head and neck vascular anomalies.

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Section: Resultsmentioning

confidence: 99%

Interdisciplinary Management of Head and Neck Vascular Anomalies: Clinical Presentation, Diagnostic Findings and Minimalinvasive Therapies

Sadick

Wohlgemuth

Huelse

et al. 2017

European Journal of Radiology Open

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“…6 Sildenafil ve sirolimus ise lenfanjiyom tedavisinde kullanılan yeni nesil medikal tedavilerdir. 7,8 Hastamızda bleomisin intralezyonel olarak 1 mg/kg tek doz uygulandı ve işlem sonrası herhangi komplikasyon görülmedi.…”

Section: Discussionunclassified

A Rare Diagnosis in an Infant with Upper Airway Obstruction: Lymphangioma

Aslan¹,

Arslan²,

Horoz³

et al. 2017

cayd

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GirişLenfanjiyom, lenfatik sistemin doğuştan malformasyonudur ve yenidoğan döneminde baş ve boyun bölgesinin en sık görülen doğuştan kistik malformasyonlardan biridir.1 Lenfatik damarlarla venöz sistem arasında nedeni bilinmeyen bir nedenle bağlantının oluşmaması sonucu gelişir. Çocukluk çağının en sık görülen ikinci benign vasküler tümörüdür ve %50'si doğumda %90'ı da 2 yaşın altında tanı alır.2 Uzun yıllar temel tedavi olarak cerrahi eksizyon uygulanmasına rağmen komşuluğundaki önemli anatomik dokulara invaze olduğunda eksizyonu zordur ve nüks, skar, enfeksiyon gibi komplikasyonlarından dolayı seçenek tedavi arayışlarına neden olmuştur. Son yıllarda kullanılan yeni tedavi seçenekleri arasında öne çıkan bleomisin ve picibanil (OK-432) gibi sklerozan ajanların intralezyonel enjeksiyonları ile başarılı sonuçlar bildirilmektedir.3 Özellikle bleomisin yaygın olarak kullanılmaktadır ve yan etkisi oldukça azdır. Lenfanjiyom ani solunum sıkıntısına yol açması yönüyle de önem taşımaktadır. Biz burada üst hava yolu obstrüksiyonu nedeni ile başvurup acil trakeostomi açılan olguyu sunduk ve zor havayoluna yol açan bu nadir nedene ve cerrahiye seçenek olan tedavi yöntemlerine dikkat çekmek istedik.

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“…Although many studies have focused on the role of PI3K activation and inhibition in vascular endothelial cells, it is important to keep in mind that sirolimus is an immunosuppressant, and it may have greater than one mechanism of action in LM. Clinical response of HNLM or LM associated syndromes/disorders such as Gorham‐Stout disease, kaposiform hemangioendothelioma, combined lymphatico‐venous malformation, pulmonary lymphangectasia, generalized lymphangiomatosis, and LM of the tongue to sirolimus has varied . Literature to date does not yet distinguish which patients are the best candidates for sirolimus and what true benefits it has.…”

Section: Therapy For Head and Neck Lymphatic Malformations Based On Mmentioning

confidence: 99%

Clinical application of molecular genetics in lymphatic malformations

Padia

Zenner

Bly

et al. 2019

Laryngoscope Investig Oto

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Objectives To describe the clinical presentation of lymphatic malformations (LM) and genotypically associated disorders and to summarize the recent literature regarding the genetic etiology of LM and provide a biologic correlation to medical and surgical management. Results LM are congenital lesions derived from a developmental abnormality of the lymphatic vessels. The severity of disease varies widely and complications can occur with higher staged disease and those associated with a known constellation of symptoms. Somatic mutations of the PIK3CA gene have been found to be an etiologic factor in the development of LM and associated overgrowth syndromes. Sirolimus is a mammalian target of rapamycin (mTOR) inhibitor that inhibits the pathway downstream of PIK3CA . Preliminary studies in select groups of patients suggest that sirolimus has a role in the medical management of certain aspects of this disease. Conclusions Discovery of LM molecular genetics has led to the possibility of targeted therapies and highlights the importance of precision medicine in rare diseases. Identifying genetic mutations in larger cohorts of patients with LM will lead to additional insights. Knowledge of the genetic basis for disease can then lead to discovery of directed medical therapy. A specific molecular diagnosis can also help families understand better why their child is different and provide accurate counseling for subsequent pregnancies. Level of Evidence 6

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Lymphatic Malformation in Newborns as the First Sign of Diffuse Lymphangiomatosis: Successful Treatment with Sirolimus

Cited by 45 publications

References 8 publications

Interdisciplinary Management of Head and Neck Vascular Anomalies: Clinical Presentation, Diagnostic Findings and Minimalinvasive Therapies

Interdisciplinary Management of Head and Neck Vascular Anomalies: Clinical Presentation, Diagnostic Findings and Minimalinvasive Therapies

A Rare Diagnosis in an Infant with Upper Airway Obstruction: Lymphangioma

Clinical application of molecular genetics in lymphatic malformations

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