scholarly journals TOPICAL TACROLIMUS 0.1% FOR TREATMENT OF CUTANEOUS MICROCYSTIC LYMPHATIC MALFORMATIONS

Lymphology ◽  
2021 ◽  
Vol 54 (2) ◽  
Author(s):  
S.A. Salvia ◽  
M.A. Amore ◽  
C.M. Papendieck
Keyword(s):  
Systemic Treatment ◽  
Vascular Malformations ◽  
Treatment Options ◽  
Topical Administration ◽  
Complementary Therapy ◽  
High Rate ◽  
Low Flow ◽  
Topical Formulation ◽  
Lymphatic Malformations ◽  
Topical Tacrolimus

Microcystic lymphatic malformations as described in the international literature form a subgroup of low-flow congenital vascular malformations (VM) resulting from irregular embryological development. Microcystic lesions normally manifest as an accumulation of lymph- and blood-filled vesicles that, when externalized, cause skin maceration with consequent pain and potential infection resulting in the impairment of the patient's quality of life. There is no consensus on a standardized algorithm nor clear guidelines for successful treatment of this type of lymphatic malformation, and treatment options employed often result in ambivalent and transient outcomes with a high rate of recurrence. The topical formulation of tacrolimus is a well-known FDA-approved anti-T cell agent that was recently identified as a potent activator of ALK1, which is involved in several processes and functions including angiogenesis. We investigated if topical administration of tacrolimus may be an effective therapy for directly targeting cutaneous microcystic lymphatic malformations as a complement to systemic treatment. The study enrolled four patients with cutaneous microcystic lymphatic malformations: three male (ages: 13, 15, 18) and one female (age: 30). Two of the patients presented lesions on their backs, one patient on the left hand and one on the left lower limb. All four patients received treatment with topical tacrolimus 0.1% twice a day for 10 weeks on a previously selected area for application. Weekly clinical follow-ups were conducted along with close physician-patient contact. All patients displayed a satisfactory response after treatment. Lymphorrhea and bleeding were stopped in all cases and the esthetic aspect of lesions improved in two patients. To date, all patients presented no clinically significant changes to the size or extension of the lesion. Topical tacrolimus treatment is a promising and reasonable option for microcystic lymphatic malformations. Our results encourage further exploration in larger populations with the consideration that it is a safe and effective alternative or complementary therapy to systemic treatment.

scholarly journals Spontaneously Resolved Macrocystic Lymphatic Malformations: Predictive Variables and Outcomes

2017 ◽  
Vol 25 (1) ◽  
pp. 27-31 ◽  
Author(s):  
Michael J. Phang ◽  
Douglas J. Courtemanche ◽  
Marija Bucevska ◽  
Claudia Malic ◽  
Jugpal S. Arneja
Keyword(s):  
Respiratory Tract ◽  
Median Time ◽  
Vascular Malformations ◽  
Neck Region ◽  
Retrospective Chart Review ◽  
Spontaneous Resolution ◽  
Low Flow ◽  
Upper Respiratory Tract ◽  
Lymphatic Malformations ◽  
Upper Respiratory

Introduction: Lymphatic malformations are benign, low-flow vascular malformations that typically present at or near birth. Due to morbidity associated with operative treatment, nonoperative treatment with injection of sclerosant has become the mainstay of therapy. Over the past 15 years, several patients at our centre with macrocystic (>2 cm cyst size) lymphatic malformations have seen their lesions resolve spontaneously while awaiting treatment. In this study, we review features of these patients that may contribute to spontaneous resolution. Method: A retrospective chart review was conducted from our Vascular Anomalies Clinic database (1999-2014) of all macrocystic lymphatic malformations; characteristics of patients with spontaneous resolution were reviewed. Results: Of 61 patients with macrocystic lymphatic malformations, 7 cases (11.5%; 4 females, 3 males) resolved spontaneously. Median age at malformation appearance was 2 years (range: 0-6.5 years), with median age at resolution of 4 years (range: 10 months-7 years). Median time from appearance to resolution was 24 months (range: 3-43 months), with a median follow-up time of 4 years (range: 1-15 years). All but 1 case was associated with local or upper respiratory tract infection antecedent to resolution. Six of the 7 lesions were located in the neck. Conclusion: Among the cases reviewed, there was a common theme of upper respiratory tract or local infection antecedent to spontaneous lesion resolution. Compared to the literature, our proportion of malformations presenting after birth and the proportion of malformations presenting in the neck region were higher than those of other series. Although side effects associated with treatment are generally mild and/or rare, risks related to sclerotherapy and the accompanying requirement for general anesthesia in pediatric populations nevertheless exist. As the median time from lesion appearance to resolution was 24 months, it may be reasonable to observe these malformations for up to 24 months before proceeding with treatment if the lesion does not impair function and disfigurement is not considerable, particularly if the lesion presents after birth and/or is located in the neck region.

Abstract 1122‐000135: Application of the Berenstein‐DeLeacy Grading Scale to Assess Treatment Outcome in Orbital Lymphatic Malformations

2021 ◽  
Vol 1 (S1) ◽  
Author(s):  
Reade De Leacy ◽  
Maximilian J Bazil ◽  
Neha Siddiqui ◽  
Stavros Matsoukas ◽  
Tomoyoshi Shigematsu ◽  
...  
Keyword(s):  
Granulation Tissue ◽  
Vascular Malformations ◽  
Low Flow ◽  
Complete Regression ◽  
Lymphatic Malformations ◽  
Interval Change ◽  
Radiologic Findings ◽  
Scale Scores ◽  
Complete Obliteration ◽  
Initial Imaging

Introduction : Lymphatic malformations (LMs) are low‐flow vascular malformations that arise as a result of erroneous vascular development during embryogenesis. Prior to the advent of the Berenstein‐De Leacy (BDL) scale, no reproducible grading system had been designed to compare sclerotherapy outcomes on the basis of radiologic findings. The soft‐tissue detail, absence of ionizing radiation, safety profile, and ubiquity of MR imaging made it an ideal technique on which the imaging‐based criteria was developed. The BDL scale ranges from 1–7 denoting complete obliteration to significant progression respectively. A “B” modifier is assigned for identification of granulation tissue in the treatment bed. We examine and validate the BDL scale on a cohort of 16 orbital LMs from our practice. Methods : Orbital LMs treated with sclerotherapy at our practice between 2000 and 2021 were assessed by an attending physician prior to initial and after final treatment to assign scale scores. The assigned scores represent changes in the orbit as defined by pre‐ and post‐septal spaces, above and below eyelids, and intra/extraconal spaces going to the coronal apex without the cavernous sinus. Results : The median age at initial imaging was 24 months (range: 1–445 months) and 108 months (range 12–528) at final imaging. The median imaging interval was 61 month. Males and females were represented in our cohort equally. Six cases presented with right orbital LMs (37.5%) and 10 presented on the left (62.5%). Six cases presented with macrocystic malformations (37.5%), five cases with microcystic (31.25%), and five cases with mixed (31.25%). 11 patients were treated with bleomycin and 5 patients were treated with bleomycin and doxycycline. BDL scale scores ranged from 2–7 with one case assigned the “B” modifier. Two cases were labelled as BDL7, or gross interval progression of the LM. Four cases were labelled as BDL6, or regression of the LM in one region with progression into a previously uninvolved/untreated area. Three cases were labelled as BDL5 with minimal or no gross interval change. One case was labelled as BDL4 and assigned the “B” modifier for partial regression with >50% estimated volume of residual malformation and granulation tissue in the treatment bed. Three cases were labelled as BDL3, or partial repression with <50% estimated volume of residual malformation. One case was labelled as BDL2 with near‐complete regression with trace residual of the lesion. No cases were labelled as BDL1, or complete regression of the lesion. Conclusions : The BDL scale was applied to a series of 16 orbital LMs to demonstrate its versatility in describing the treatment progression of this historically difficult‐to‐classify malformation. We hope visualization of BDL scores for orbital LMs will assist other interventionalists with incorporating this scale as a metric for treatment progression and outcomes.

scholarly journals Acute approach to orbital lymphatic malformations

2020 ◽  
Vol 4 ◽  
pp. 10
Author(s):  
Jackson M. Bennett ◽  
Amit R. Bhatt ◽  
Alex Chau ◽  
Sudhen B. Desai
Keyword(s):  
Vascular Malformations ◽  
Treatment Options ◽  
Tertiary Care ◽  
Case Series ◽  
Neck Region ◽  
Therapeutic Interventions ◽  
Ultrasound Guided ◽  
Lymphatic Malformations ◽  
Treatment Timing ◽  
Eyelid Swelling

Pediatric lymphatic malformations (LMs) represent a rare, benign subtype of vascular malformations that can commonly occur in the head or neck region, specifically in or around the orbit. Orbital LMs typically require a multidisciplinary team of specialists and diagnostic imaging. Historically, treatment options for these periorbital LMs include imaging-guided drainage with sclerotherapy in addition to surgery, at times in conjunction with medical management. There exists debate in terms of an approach for management timing of these lesions across various treatment centers, and interventional radiologists should be informed regarding treatment timing considerations in evaluating patients for potential intervention. The aim of this case series is to review the current standards regarding therapeutic interventions for LMs in the literature and discuss an organized approach to guide the optimal treatment timing for the management of these lesions. In this case series, two pediatric patients – one 2 years old and one 12 years old – presented with a unilateral periorbital LM and received treatment at an academic tertiary care children’s hospital. The first patient was diagnosed with macrocystic periorbital LM after presenting with eye pain and eyelid swelling. After initial ultrasound-guided drainage to relieve eye pressure, the patient rebled into the LM and underwent sclerotherapy intervention. The second case involved a periorbital LM with intralesional hemorrhage presenting as a violaceous eyelid mass diagnosed after bumping into a swing. The patient was treated medically with interval growth of the LM and underwent subsequent sclerotherapy. Both patients responded well to ultrasound-guided sclerotherapy. The management timing and decision to intervene were based on consults from multidisciplinary services, age, risk factors, and clinical stability on presentation. We present two cases of pediatric periorbital LM and review an organized institutional approach for treatment timing based on paradigms in the literature.

scholarly journals The Role of Interventional Radiologists in the Treatment of Congenital Lymphatic Malformations

2020 ◽  
Vol 37 (03) ◽  
pp. 285-294
Author(s):  
Julie Cronan ◽  
Anne E. Gill ◽  
Jay H. Shah ◽  
C. Matthew Hawkins
Keyword(s):  
Vascular Malformations ◽  
Pediatric Population ◽  
Mammalian Target Of Rapamycin ◽  
Disease Process ◽  
Low Flow ◽  
Complication Rates ◽  
Management Options ◽  
Lymphatic Malformations ◽  
Percutaneous Sclerotherapy

AbstractLymphatic malformations are low-flow vascular malformations that are typically apparent in the pediatric population and can cause significant functional limitations and effects on quality of life. While surgical resection has historically been the mainstay of therapy, percutaneous sclerotherapy has garnered increasing popularity due to its efficacy and low complication rates. The role of interventional radiology in the multidisciplinary management of these often complex malformations requires thorough understanding of the disease process. This article will review the pathophysiology, clinical presentation, imaging workup, and management options of lymphatic malformations. Special attention will be devoted to available sclerosants, the mammalian target of rapamycin inhibitor sirolimus, and complex lymphatic anomalies.

Treatment options and long-term outcomes in pediatric spinal cord vascular malformations: a case report and review of the literature

2020 ◽  
Vol 36 (12) ◽  
pp. 3147-3152
Author(s):  
Helen J. Zhang ◽  
Nicole Silva ◽  
Elena Solli ◽  
Amanda C. Ayala ◽  
Luke Tomycz ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Case Report ◽  
Vascular Malformations ◽  
Treatment Options ◽  
Review Of The Literature ◽  
Long Term Outcomes

scholarly journals Lymphatic Malformation Responsive to Sirolimus in Keratinocytic Epidermal Nevus Syndrome with KRAS Mutation: A Case and Brief Literature Discussion

2021 ◽  
pp. 195-201
Author(s):  
Emily Sideris ◽  
Er Tsing Vivian Tng ◽  
Paul Chee
Keyword(s):  
Current Literature ◽  
Kras Mutation ◽  
Rare Case ◽  
Mtor Inhibitor ◽  
Vascular Malformations ◽  
Lymphatic Malformation ◽  
Literature Discussion ◽  
Lymphatic Malformations ◽  
Epidermal Nevus ◽  
Overgrowth Syndromes

We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor. A brief review of the current literature regarding sirolimus use in vascular malformations, lymphatic malformations, regional overgrowth syndromes, and RASopathies is discussed.

scholarly journals Predictors of mortality in patients with hereditary hemorrhagic telangiectasia

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
K. P. Thompson ◽  
◽  
J. Nelson ◽  
H. Kim ◽  
L. Pawlikowska ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Cox Regression ◽  
Clinical Symptoms ◽  
Vascular Malformations ◽  
Smoking Status ◽  
Treatment Options ◽  
Gi Bleeding ◽  
Cox Regression Analysis ◽  
Predictors Of Mortality

Abstract Background Retrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT). Prospective data suggests similar mortality, to the general population, in Denmark’s centre-treated HHT patients. However, clinical phenotypes vary widely in HHT, likely affecting mortality. We aimed to measure predictors of mortality among centre-treated HHT patients. HHT patients were recruited at 14 HHT centres of the Brain Vascular Malformation Consortium (BVMC) since 2010 and followed annually. Vital status, organ vascular malformations (VMs) and clinical symptoms data were collected at baseline and during follow-up (N = 1286). We tested whether organ VMs, HHT symptoms and HHT genes were associated with increased mortality using Cox regression analysis, adjusting for patient age, sex, and smoking status. Results 59 deaths occurred over average follow-up time of 3.4 years (max 8.6 years). A history of anemia was associated with increased mortality (HR = 2.93, 95% CI 1.37–6.26, p = 0.006), as were gastro-intestinal (GI) bleeding (HR = 2.63, 95% CI 1.46–4.74, p = 0.001), and symptomatic liver VMs (HR = 2.10, 95% CI 1.15–3.84, p = 0.015). Brain VMs and pulmonary arteriovenous malformations (AVMs) were not associated with mortality (p > 0.05). Patients with SMAD4 mutation had significantly higher mortality (HR = 18.36, 95% CI 5.60–60.20, p < 0.001) compared to patients with ACVRL1 or ENG mutation, but this estimate is imprecise given the rarity of SMAD4 patients (n = 33, 4 deaths). Conclusions Chronic GI bleeding, anemia and symptomatic liver VMs are associated with increased mortality in HHT patients, independent of age, and in keeping with the limited treatment options for these aspects of HHT. Conversely, mortality does not appear to be associated with pulmonary AVMs or brain VMs, for which patients are routinely screened and treated preventatively at HHT Centres. This demonstrates the need for development of new therapies to treat chronic anemia, GI bleeding, and symptomatic liver VMs in order to reduce mortality among HHT patients.

Bleomycin for orbital and peri-orbital veno-lymphatic malformations – A systematic review

2020 ◽  
pp. 159101992097251
Author(s):  
Khunsa Faiz ◽  
Stephanos Finitsis ◽  
Janice Linton ◽  
Jai Jai Shiva Shankar
Keyword(s):  
Systematic Review ◽  
Pulmonary Fibrosis ◽  
Vascular Malformations ◽  
Symptomatic Improvement ◽  
Low Flow ◽  
Cochrane Database ◽  
Objective Reduction ◽  
Retrospective Cohort Studies ◽  
Subjective Reduction

Background Orbital and peri-orbital venolymphatic malformations (VLM) are low flow vascular malformations. Intralesional bleomycin is now commonly being used to treat such malformations. Objective The purpose of this systematic review is to synthesize evidence on the safety and efficacy of bleomycin/pingyangmycin sclerotherapy for the treatment of orbital and peri-orbital VLM. Methods We searched Medline, Embase, Scopus and Cochrane database for studies reporting outcomes of bleomycin/pingyangmycin sclerotherapy for orbital and peri-orbital VLM between 1974 to April 5th, 2019. Nine retrospective cohort studies enrolling 132 patients were included. Two reviewers independently screened and extracted data and assessed the risk of bias. Predefined outcome measures were subjective and objective reduction of the lesion and associated complications. Results Subjective reduction of the lesions was seen in 96.2% of the studies. Objective reduction of the lesion and symptomatic improvement were reported in 91.6 and 95% of the studies respectively. Non responders were 9.0%. Minor adverse events were reported in 18.1% of the studies. Major complications like pulmonary toxicity or pulmonary fibrosis was not encountered in any of the included studies. Quality of evidence was generally low. Conclusion Bleomycin/pingyangmycin sclerotherapy is very effective and relatively safe for the treatment of orbital and periorbital VLM and is not associated with any major side effects including pulmonary fibrosis. Limitations: The systematic review is limited mainly due to low quality of the included studies with retrospective design.

scholarly journals Transcriptome-wide Profiling of Cerebral Cavernous Malformations Patients Reveal Important Long noncoding RNA molecular signatures

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Santhilal Subhash ◽  
Norman Kalmbach ◽  
Florian Wegner ◽  
Susanne Petri ◽  
Torsten Glomb ◽  
...  
Keyword(s):  
Noncoding Rna ◽  
Vascular Malformations ◽  
Cerebrovascular Disorders ◽  
Gene Set Enrichment Analysis ◽  
Differentially Expressed ◽  
Low Flow ◽  
Pcr Analysis ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Non Coding Rnas

AbstractCerebral cavernous malformations (CCMs) are low-flow vascular malformations in the brain associated with recurrent hemorrhage and seizures. The current treatment of CCMs relies solely on surgical intervention. Henceforth, alternative non-invasive therapies are urgently needed to help prevent subsequent hemorrhagic episodes. Long non-coding RNAs (lncRNAs) belong to the class of non-coding RNAs and are known to regulate gene transcription and involved in chromatin remodeling via various mechanism. Despite accumulating evidence demonstrating the role of lncRNAs in cerebrovascular disorders, their identification in CCMs pathology remains unknown. The objective of the current study was to identify lncRNAs associated with CCMs pathogenesis using patient cohorts having 10 CCM patients and 4 controls from brain. Executing next generation sequencing, we performed whole transcriptome sequencing (RNA-seq) analysis and identified 1,967 lncRNAs and 4,928 protein coding genes (PCGs) to be differentially expressed in CCMs patients. Among these, we selected top 6 differentially expressed lncRNAs each having significant correlative expression with more than 100 differentially expressed PCGs. The differential expression status of the top lncRNAs, SMIM25 and LBX2-AS1 in CCMs was further confirmed by qRT-PCR analysis. Additionally, gene set enrichment analysis of correlated PCGs revealed critical pathways related to vascular signaling and important biological processes relevant to CCMs pathophysiology. Here, by transcriptome-wide approach we demonstrate that lncRNAs are prevalent in CCMs disease and are likely to play critical roles in regulating important signaling pathways involved in the disease progression. We believe, that detailed future investigations on this set of identified lncRNAs can provide useful insights into the biology and, ultimately, contribute in preventing this debilitating disease.

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