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1.
BMJ Case Rep ; 14(10)2021 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-34607814

RESUMO

Lymphatic malformation (LM) that causes inguinoscrotal swelling is extremely rare. Surgery, sclerotherapy and pharmacotherapy have been reported as possible treatment options for LM. Recently, Eppikajutsuto (TJ-28), a traditional Japanese herbal medicine has emerged as therapeutic option for LM. We report the case of a 2-year-old boy who presented with a left inguinoscrotal swelling, which was diagnosed as retroperitoneal LM extending into the left scrotum. The surgical approach was less favourable, given the risk of damaging the testicular vasculature or the spermatic cord. Therefore, the patient received medical treatment with TJ-28. As a result, a volume reduction of 83% was obtained, as well as the unexpected consequence of the left testicle retracting into the inguinal area. Laparoscopic exploration was performed and a small bulge on the internal inguinal ring was detected. The patient's acquired cryptorchidism was subsequently treated by orchidopexy.


Assuntos
Criptorquidismo , Anormalidades Linfáticas , Pré-Escolar , Criptorquidismo/complicações , Criptorquidismo/cirurgia , Humanos , Masculino , Orquidopexia , Preparações Farmacêuticas , Extratos Vegetais
2.
J Med Case Rep ; 15(1): 398, 2021 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-34372919

RESUMO

BACKGROUND: Generalized lymphatic anomaly previously known as diffuse systemic lymphangiomatosis is a rare multisystem congenital disease arising from the lymphatic system, and it is characterized by abnormal proliferation of the lymphatic channels in osseous and extraosseous tissues. It typically affects children or young adults. Although it is benign, it can be misdiagnosed as malignancy because of its diffuse and debilitating nature depending on the site of involvement. Due to its rarity, diagnosis is often delayed, leading to potential significant morbidity or mortality if vital organs are involved. Furthermore, its potential for multiorgan involvement with no curative treatment makes its management challenging. CASE PRESENTATION: We describe a case of a 35-year-old Caucasian female, who presented with epigastric pain and was subsequently extensively investigated at multiple tertiary centers by numerous specialists for query malignancy and metabolic bone disorder following incidental computed tomography imaging findings of multiple osteolytic lesions in the axial skeleton, and low-attenuating lesions in the axilla, spleen, and mediastinum. The diagnosis was confirmed with an axillary excisional biopsy. She was clinically stable with no end organ damage. She was monitored conservatively. CONCLUSIONS: The case illustrates the importance of increased awareness among clinicians for this rare congenital disease to enable earlier diagnosis and to avoid unnecessary invasive investigations. Furthermore, this case highlights the potential need for multiple biopsies of affected sites to confirm diagnosis. We also discuss the emergence of interferon therapy, chemotherapy, immunosuppression, and immunotherapy as medical management for this condition.


Assuntos
Linfangioma , Anormalidades Linfáticas , Adulto , Biópsia , Criança , Feminino , Humanos , Anormalidades Linfáticas/diagnóstico por imagem , Anormalidades Linfáticas/terapia , Baço , Tomografia Computadorizada por Raios X
3.
Dermatol Ther ; 34(5): e15074, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34338412

RESUMO

Vascular malformations (VM) are congenital, benign, and relatively frequent lesions. Scant data have been published about the epidemiology, clinical presentation, and treatment of VM from a dermatologist's perspective. The substantial differences between subtypes, broad range of specialists consulted and confusing nomenclature used over previous years may hamper a correct diagnosis. The main objective of this study is to describe VM epidemiology. As a secondary endpoint we evaluate clinical characteristics, clinical-radiological correlation and treatment approaches. We carried out an observational, descriptive, retrospective study. Cases presented to the multidisciplinary committee of our hospital from 2009 to 2019 were retrieved. Electronic medical records, monthly committee reports and the iconographic archive were reviewed and statistically analyzed. Overall, venous malformations (VeM) are the most frequent VM, followed by capillary malformations (CM), arterioVeM and lymphatic malformations (LM). Considering only patients under 16, CMs are the most frequent ones. Capillary and LMs are larger than venous or arteriovenous. While CMs are usually asymptomatic, symptomatic cases are threefold more frequent in the other subtypes. Decisions on active or conservative management depend on VM size but not location or patient age. CMs are mainly treated with laser therapy; venous with sclerotherapy or surgery; arteriovenous with surgery and lymphatic with surgery or sirolimus. Dermatologists play an important role in VM diagnosis and management. Our 10-year multidisciplinary experience should contribute to the literature and represent a practical resource for clinicians and researchers.


Assuntos
Anormalidades Linfáticas , Malformações Vasculares , Humanos , Estudos Retrospectivos , Escleroterapia/efeitos adversos , Malformações Vasculares/diagnóstico , Malformações Vasculares/epidemiologia , Malformações Vasculares/terapia , Veias
4.
AJNR Am J Neuroradiol ; 42(10): 1859-1864, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34446456

RESUMO

BACKGROUND AND PURPOSE: Two-thirds of lymphatic malformations in children are found in the head and neck. Although conventionally managed through surgical resection, percutaneous sclerotherapy has gained popularity. No reproducible grading system has been designed to compare sclerotherapy outcomes on the basis of radiologic findings. We propose an MR imaging-based grading scale to assess the response to sclerotherapy and present an evaluation of its interrater reliability. MATERIALS AND METHODS: A grading system was developed to stratify treatment outcomes on the basis of interval changes observed on MR imaging. By means of this system, 56 consecutive cases from our institution with formally diagnosed head and neck lymphatic malformations treated by sclerotherapy were retrospectively graded. Each patient underwent pre- and posttreatment MR imaging. Each study was evaluated by 3 experienced neuroradiologists. Interrater reliability was assessed using the Krippendorff α statistic, intraclass coefficient, and 2-way Spearman ρ correlation. RESULTS: The overall Krippendorff α statistic was 0.93 (95% CI, 0.89-0.95), denoting excellent agreement among raters. Intraclass coefficients with respect to consistency and absolute agreements were both 0.97 (95% CI, 0.96-0.98), illustrating low variability. Every combination of individual rater pairs demonstrated statistically significant (P < .01) linear Spearman ρ correlations, with values ranging from 0.90 to 0.95. CONCLUSIONS: The proposed radiographic grading scale demonstrates excellent interrater reliability. Adoption of this new scale can standardize reported outcomes following sclerotherapy for head and neck lymphatic malformation and may aid in the investigation of future questions regarding optimal management of these lesions.


Assuntos
Anormalidades Linfáticas , Criança , Cabeça/diagnóstico por imagem , Humanos , Anormalidades Linfáticas/diagnóstico por imagem , Anormalidades Linfáticas/terapia , Pescoço/diagnóstico por imagem , Reprodutibilidade dos Testes , Estudos Retrospectivos , Escleroterapia , Resultado do Tratamento
5.
Orphanet J Rare Dis ; 16(1): 267, 2021 06 10.
Artigo em Inglês | MEDLINE | ID: mdl-34112235

RESUMO

BACKGROUND: Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients' genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA extracted from resected lesional tissue or lymphatic endothelial cells (LECs) isolated from lesions. Our cohort (n = 143) was composed of unrelated patients suffering from a common lymphatic malformation (LM), a combined lymphatic malformation [lymphatico-venous malformation (LVM), capillaro-lymphatic malformation (CLM), capillaro-lymphatico-venous malformation (CLVM)], or a syndrome [CLVM with hypertrophy (Klippel-Trenaunay-Weber syndrome, KTS), congenital lipomatous overgrowth-vascular malformations-epidermal nevi -syndrome (CLOVES), unclassified PIK3CA-related overgrowth syndrome (PROS) or unclassified vascular (lymphatic) anomaly syndrome (UVA)]. RESULTS: We identified a somatic PIK3CA mutation in resected lesions of 108 out of 143 patients (75.5%). The frequency of the variant allele ranged from 0.54 to 25.33% in tissues, and up to 47% in isolated endothelial cells. We detected a statistically significant difference in the distribution of mutations between patients with common and combined LM compared to the syndromes, but not with KTS. Moreover, the variant allele frequency was higher in the syndromes. CONCLUSIONS: Most patients with an common or combined lymphatic malformation with or without overgrowth harbour a somatic PIK3CA mutation. However, in about a quarter of patients, no such mutation was detected, suggesting the existence of (an)other cause(s). We detected a hotspot mutation more frequently in common and combined LMs compared to syndromic cases (CLOVES and PROS). Diagnostic genotyping should thus not be limited to PIK3CA hotspot mutations. Moreover, the higher mutant allele frequency in syndromes suggests a wider distribution in patients' tissues, facilitating detection. Clinical trials have demonstrated efficacy of Sirolimus and Alpelisib in treating patients with an LM or PROS. Genotyping might lead to an increase in efficacy, as treatments could be more targeted, and responses could vary depending on presence and type of PIK3CA-mutation.


Assuntos
Síndrome de Klippel-Trenaunay-Weber , Lipoma , Anormalidades Linfáticas , Malformações Vasculares , Classe I de Fosfatidilinositol 3-Quinases/genética , Células Endoteliais , Humanos , Mutação
6.
Orphanet J Rare Dis ; 16(1): 260, 2021 06 08.
Artigo em Inglês | MEDLINE | ID: mdl-34103076

RESUMO

BACKGROUND: Kaposiform lymphangiomatosis (KLA), which is a new subtype of generalized lymphatic anomaly, is a rare disease with a poor prognosis. Currently, there is no standard treatment due to the poor understanding of KLA. Sirolimus, which is an inhibitor of mammalian target of rapamycin, has been shown to have promising potential in the treatment of complicated vascular anomalies. The aim of this study was to introduce the use of sirolimus for the treatment of KLA and to highlight the challenges of managing this refractory disease. RESULTS: We reported seven patients with KLA who received sirolimus therapy in our center. Combined with previously reported cases, 58.3% achieved a partial response, 25.0% had stable disease, and 16.7% experienced disease progression. No severe sirolimus-related adverse events occurred during treatment. CONCLUSIONS: This study suggests that sirolimus is currently an option for the treatment of KLA, and it is hoped that more specific therapies will be developed in the future. Rapid advances in basic science and clinical practice may facilitate the development of important new treatments for KLA.


Assuntos
Linfangioleiomiomatose , Anormalidades Linfáticas , Malformações Vasculares , Humanos , Linfangioleiomiomatose/tratamento farmacológico , Sirolimo/uso terapêutico
7.
Circ Res ; 129(1): 131-135, 2021 06 25.
Artigo em Inglês | MEDLINE | ID: mdl-34166069

RESUMO

Vascular malformations, affecting ≈1% to 1.5% of the population, comprise a spectrum of developmental patterning defects of capillaries, arteries, veins, and/or lymphatics. The majority of vascular malformations occur sporadically; however, inherited malformations exist as a part of complex congenital diseases. The malformations, ranging from birthmarks to life-threatening conditions, are present at birth, but may reveal signs and symptoms-including pain, bleeding, disfigurement, and functional defects of vital organs-in infancy, childhood, or adulthood. Vascular malformations often exhibit recurrent patterns at affected sites due to the lack of curative treatments. This review series provides a state-of-the-art assessment of vascular malformation research at basic, clinical, genetic, and translational levels.


Assuntos
Vasos Sanguíneos/anormalidades , Anormalidades Linfáticas , Vasos Linfáticos/anormalidades , Malformações Vasculares , Animais , Vasos Sanguíneos/metabolismo , Predisposição Genética para Doença , Variação Genética , Humanos , Anormalidades Linfáticas/genética , Anormalidades Linfáticas/metabolismo , Anormalidades Linfáticas/patologia , Anormalidades Linfáticas/terapia , Vasos Linfáticos/metabolismo , Fenótipo , Fatores de Risco , Malformações Vasculares/genética , Malformações Vasculares/metabolismo , Malformações Vasculares/patologia , Malformações Vasculares/terapia
8.
Circ Res ; 129(1): 136-154, 2021 06 25.
Artigo em Inglês | MEDLINE | ID: mdl-34166072

RESUMO

Lymphatic vessels maintain tissue fluid homeostasis by returning to blood circulation interstitial fluid that has extravasated from the blood capillaries. They provide a trafficking route for cells of the immune system, thus critically contributing to immune surveillance. Developmental or functional defects in the lymphatic vessels, their obstruction or damage, lead to accumulation of fluid in tissues, resulting in lymphedema. Here we discuss developmental lymphatic anomalies called lymphatic malformations and complex lymphatic anomalies that manifest as localized or multifocal lesions of the lymphatic vasculature, respectively. They are rare diseases that are caused mostly by somatic mutations and can present with variable symptoms based upon the size and location of the lesions composed of fluid-filled cisterns or channels. Substantial progress has been made recently in understanding the molecular basis of their pathogenesis through the identification of their genetic causes, combined with the elucidation of the underlying mechanisms in animal disease models and patient-derived lymphatic endothelial cells. Most of the solitary somatic mutations that cause lymphatic malformations and complex lymphatic anomalies occur in genes that encode components of oncogenic growth factor signal transduction pathways. This has led to successful repurposing of some targeted cancer therapeutics to the treatment of lymphatic malformations and complex lymphatic anomalies. Apart from the mutations that act as lymphatic endothelial cell-autonomous drivers of these anomalies, current evidence points to superimposed paracrine mechanisms that critically contribute to disease pathogenesis and thus provide additional targets for therapeutic intervention. Here, we review these advances and discuss new treatment strategies that are based on the recently identified molecular pathways.


Assuntos
Linfangiogênese , Anormalidades Linfáticas/genética , Anormalidades Linfáticas/terapia , Vasos Linfáticos/anormalidades , Mutação , Animais , Modelos Animais de Doenças , Predisposição Genética para Doença , Humanos , Anormalidades Linfáticas/metabolismo , Anormalidades Linfáticas/patologia , Vasos Linfáticos/metabolismo , Fenótipo , Transdução de Sinais
9.
Orphanet J Rare Dis ; 16(1): 208, 2021 05 08.
Artigo em Inglês | MEDLINE | ID: mdl-33964933

RESUMO

BACKGROUND: Lymphatic malformations (LMs) are benign congenital malformations that stem from the abnormal development of the lymphatic vessels during early embryogenesis. Somatic PIK3CA gene mutations are conventional cause leading to LMs. Both macrocystic and microcystic LMs arise due to lymphatic endothelial cell-autonomous defects, depending on the time in development at which PIK3CA gene mutation occurs. Recent study finds a PIK3CA mutation in 79% of LMs. However, discovering new genetic events in this disease is crucial to identify the molecular mechanism of the pathogenesis and further develop new targeted therapies. RESULTS: Here, we initially performed whole-exome sequencing in six children with LMs to find a new causal gene. Somatic mutations in PIK3CA (c.1633G > A [p. E545K] and PIK3CD (c.1997T > C [p.L666P]) were discovered in two different individuals. In vitro functional studies were conducted to demonstrate the pathogenicity of the novel mutation c.1997T > C in PIK3CD. We found that L666P promoted the cell proliferation and migration of human umbilical vein endothelial cells (HUVECs) and induced hyperactivation of the mTOR pathway. These findings indicate that the PIK3CD mutation affects downstream signalling in endothelial cells, which may impair normal lymphangiogenesis. CONCLUSIONS: This study reveals a novel candidate gene associated with the development of LMs, which is consistent with previous researches. These findings in our study may offer a novel gene target for developing therapies, which acts in tight interaction with the previously known PIK3CA.


Assuntos
Classe I de Fosfatidilinositol 3-Quinases , Anormalidades Linfáticas , Vasos Linfáticos , Criança , Classe I de Fosfatidilinositol 3-Quinases/genética , Células Endoteliais , Humanos , Anormalidades Linfáticas/genética , Mutação/genética , Transdução de Sinais
10.
J Pediatr Surg ; 56(5): 1062-1067, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33982660

RESUMO

BACKGROUND/PURPOSE: Cervicofacial lymphatic malformations (CFLM) are rare, potentially life-threatening vascular anomalies, yet reports on multidisciplinary treatment strategies are lacking. We evaluated outcomes for CFLMs following sclerotherapy, surgical resection, and/or medical management. METHODS: We identified children with a CFLM at a vascular anomalies center from 2004 to 2019. EXCLUSION CRITERIA: retro-orbital malformations, untreated malformations, patients without follow-up. Primary clinical outcome was contour improvement, with significance defined as LM volume reduction of >50% by cross-sectional imaging. RESULTS: Sixty-three children met inclusion criteria: 35 with macrocystic CFLMs, six with microcystic CFLMs, and 22 with mixed-type malformations. Mean post-intervention follow-up was 27.5 months. Fifty-eight patients underwent sclerotherapy (median: two treatments). Doxycycline and/or bleomycin were used in 95% of patients. After sclerotherapy, 97% of macrocystic CFLMs improved significantly compared to 82% of mixed and 67% of microcystic lesions. Sixteen children underwent surgical resection with 75% significantly improving; two additional patients were successfully treated with sclerotherapy after debulking surgery. Six children received sirolimus for microcystic disease, of which 33% significantly improved. CONCLUSION: Sclerotherapy is very effective for macrocystic components of CFLMs, albeit less so for microcystic disease. Microcystic CFLMs frequently require surgical resection. Sirolimus is a helpful therapeutic adjunct, particularly for microcystic lesions, but more study is needed. LEVEL OF EVIDENCE: Level II, prognosis study.


Assuntos
Linfangioma Cístico , Anormalidades Linfáticas , Bleomicina/uso terapêutico , Criança , Humanos , Lactente , Anormalidades Linfáticas/tratamento farmacológico , Estudos Retrospectivos , Soluções Esclerosantes/uso terapêutico , Escleroterapia , Resultado do Tratamento
11.
J Pediatr Surg ; 56(10): 1764-1770, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33902896

RESUMO

PURPOSE: To evaluate imaging, treatment, and outcomes in neonates with a lymphatic malformation (LM) adjacent to the airway and to evaluate risk factors that can predict outcome. METHODS: A retrospective case series was conducted of ten patients treated between January 2011 and July 2019. The main outcome measures included airway compromise and clinical response to sclerotherapy ± surgery. Categorical data were compared using the Fisher's exact test. RESULTS: Ex-utero intrapartum therapy was performed in four cases, among whom one died due to sepsis. All patients underwent schlerotherapy, with surgical debulking in two. Four patients showed a good clinical response, and five started experimental systemic treatment. Patients with bilateral disease and patients with an LM with >180° tracheal surrounding were significantly at risk for airway compromise (bilateral: n = 6/6 versus n = 0/4, p = 0.005; >180°: n = 5/5 versus n = 1/5, p = 0.048). The need for LM treatment in the neonatal period was indicative of a poor clinical response ('non-responders' 5/6, 'responders' 0/4; p = 0.048). CONCLUSIONS: This study indicates that bilateral disease and >180° tracheal surrounding are risk factors for airway compromise in neonates with an LM adjacent to the airway. In addition, the need for early treatment seems to be indicative of a poor clinical response.


Assuntos
Anormalidades Linfáticas , Humanos , Recém-Nascido , Anormalidades Linfáticas/diagnóstico por imagem , Anormalidades Linfáticas/cirurgia , Estudos Retrospectivos , Fatores de Risco , Escleroterapia , Resultado do Tratamento
12.
J Dermatol ; 48(7): 993-998, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33786853

RESUMO

Vascular anomalies comprise a heterogeneous group of disorders caused by abnormal proliferation or development of vascular and/or lymphatic vessels. Vascular anomalies present with various symptoms and complications, but no standardized methods evaluate their severity, and to measure treatment outcomes is difficult. To assess the responsiveness of measurement scores for evaluating vascular anomaly skin lesions, we conducted a validation study to compare these measurement scores with patients' objective data. In this study, data were collected from treated and untreated patients. Skin lesions were photographed at baseline and after a follow-up period of 3-6 months. The volume of skin lesions, the degree of red or purple coloration, and color tone were measured objectively. Two external dermatologists evaluated patients' photographs and determined scores, which represented criteria for improvements in skin lesions (size and color) and 6-point Physician Global Assessment scores. The correlation between these scores and patients' objective data (lesion volume and color) was assessed to validate the scores. Twenty-three cases of vascular anomaly (seven vascular tumors, five lymphatic malformations, three venous malformations, and eight lymphatic-venous malformations) were examined. Scores for improvements in vascular anomaly skin lesions (size and color) correlated with a change in lesion volume, the degree of red or purple coloration, color tone score, and 6-point Physician Global Assessment score. Our findings suggest that these measurement scores are responsive to changes in vascular anomaly skin lesions after observation.


Assuntos
Anormalidades Linfáticas , Vasos Linfáticos , Dermatopatias , Malformações Vasculares , Humanos , Veias
13.
Laryngoscope ; 131(8): 1902-1908, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33571378

RESUMO

OBJECTIVE/HYPOTHESIS: To evaluate the efficacy of initial sirolimus therapy in the treatment of intractable head and neck lymphatic malformations (LMs) in children. STUDY DESIGN: Prospective open-label study. METHODS: In this study, Twenty-seven children diagnosed with LMs were given oral sirolimus as primary treatment over a minimum 6-month trial. The major parameter to evaluate therapeutic outcome was percentage of lesion volume change compared with baseline. Average serum sirolimus concentrations, and adverse side effects, were monitored throughout the study period. RESULTS: Fifteen girls and twelve boys, average age 27 months (16 days-171 months), constitute the study group. Treatment was deemed effective for twenty-three participants, judged as fair in seven, good in nine, and excellent in seven. Two patients had minimal improvement, and two had increased volume to some degree. Effectiveness differed among LMs subtypes with responsiveness of macrocystic LMs exceeding that of microcystic LMs (P < .05). Adverse drug reactions totaled 27 events in ten patients, the majority being mild with upper respiratory infections being most common. CONCLUSIONS: Sirolimus as initial therapy is effective in decreasing lesion volume in intractable LMs in head and neck region, especially in macrocystic subtypes. Although most cases cannot be completely cured, side effects are few and tolerable. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:1902-1908, 2021.


Assuntos
Cabeça/anormalidades , Anormalidades Linfáticas/tratamento farmacológico , Pescoço/anormalidades , Sirolimo/administração & dosagem , Administração Oral , Adolescente , Criança , Pré-Escolar , Monitoramento de Medicamentos , Feminino , Humanos , Lactente , Recém-Nascido , Anormalidades Linfáticas/patologia , Masculino , Estudos Prospectivos , Resultado do Tratamento
14.
Pediatr Surg Int ; 37(6): 783-790, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33586010

RESUMO

PURPOSE: Lymphatic malformations (LMs) are congenital abnormalities which result from disturbances in the embryologic development of the lymphatic system. We sought to determine the characteristics and treatment patterns for LMs in a rural setting, and the effect of a specialized vascular malformations clinic on triage and follow-up. METHODS: This is a retrospective cohort study at a single tertiary care institution. Sixty-two patients were identified; chart review was completed to obtain demographic, surgery/sclerotherapy session and follow-up information. RESULTS: The head/neck region was the most predominant LM location (N = 26, 41.9%), followed by trunk (N = 16, 25.8%), extremity (N = 11, 17.7%), and intraabdominal/retroperitoneal (N = 7, 11.3%). Twenty-eight patients were managed non-surgically, while 21, 7 and 6 patients required surgery, sclerotherapy, or both. Head/neck LMs were the most likely to recur (73%, p = 0.028). Patients seen in specialty clinic had similar duration of follow-up and time to intervention, but were more often below 1 year of age (p = 0.030). Average LM volume among patients with available imaging was much larger in those referred to specialty clinic (73.2 cm3 versus 14.8 cm3, p = 0.022). CONCLUSION: Our experience reiterates not only the wide variety of clinical presentations of lymphatic malformations, but also demonstrates the necessity of multiple subspecialties and their collaboration to achieve prompt and efficacious treatment.


Assuntos
Hospitais/estatística & dados numéricos , Anormalidades Linfáticas/terapia , Escleroterapia/métodos , Criança , Pré-Escolar , Feminino , Seguimentos , Previsões , Humanos , Lactente , Masculino , Recidiva , Estudos Retrospectivos , Resultado do Tratamento
15.
J Pediatr Surg ; 56(8): 1425-1429, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33526253

RESUMO

BACKGROUND/PURPOSE: Abdominal lymphatic malformations (LM) are a rare subset of vascular anomaly caused by abnormal development of the lymphatic system. They are classified as macrocystic, microcystic or combination macrocystic and microcystic. Surgical resection, percutaneous sclerotherapy, and medical therapy are all employed to treat these complex and often symptomatic lesions. No standardized treatment algorithm exists currently. The purpose of this study was to establish a multidisciplinary treatment approach to abdominal LMs. METHODS: A retrospective observational study was conducted from 2013 to 2019 on patients with abdominal LMs at a single tertiary children's hospital vascular anomalies center. Demographics, imaging, and treatment modality were recorded. Clinical and/or radiographic response to the primary treatment modality as well as complications was the outcomes measured. RESULTS: Nineteen patients (12 macrocystic, 5 microcystic and 2 combined) were identified, with a median age at diagnosis of 2.2 years (range 0.1-20.8 years). Sclerotherapy was the most common primary treatment, followed by surgical resection and sirolimus. No difference in clinical response (p = 0.58) or complications (p = 0.31) was observed based on primary treatment or subtypes. CONCLUSIONS: Based on our institutional experience, we propose an LM subtype-based treatment algorithm for abdominal LMs. It employs a multidisciplinary approach, and results in satisfactory patient outcomes with minimal complications. LEVEL OF EVIDENCE: Level III, retrospective comparative study.


Assuntos
Anormalidades Linfáticas , Abdome , Adolescente , Adulto , Criança , Pré-Escolar , Humanos , Lactente , Anormalidades Linfáticas/diagnóstico por imagem , Anormalidades Linfáticas/terapia , Estudos Retrospectivos , Escleroterapia , Resultado do Tratamento , Adulto Jovem
16.
Lymphat Res Biol ; 19(1): 36-40, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33625888

RESUMO

Background: Lymphedema in children and adolescents is a rare and chronic condition. The management of their lymphedema is mainly driven by the adaptation of treatments used in adults. The aim of our study was to explore the needs and challenges the children and adolescents face during their management with the aim of finding ways to satisfy these needs and organize an hospital-based centre accordingly with an educational program. Methods and Results: Patients and their families were given the opportunity to meet other patients, their families and professionals during social activities organised annually and during two international camps. They were invited to take part in different semi structured focus groups and interviews. All patients and families described a long journey and relief when the diagnosis was obtained followed by the shock of being told that it was a chronic condition. Meeting other children with the condition was a relief. The impact of lymphedema on body shape and genitals was a source of distress. Rejection of the compression was part of journey. Lymphedema management had an impact on all the family members including siblings. Parents were responsible for their child self-management in young children which was described as demanding. It was followed by a complex transition phase to self-management. The impact was not the same according to the age the lymphedema had started. Conclusion: Acceptance and management of lymphedema is complex and invades many aspects of families' life. Self-management is demanding. Based on these results, the management of lymphedema in the centre included meeting other children and families and an educational program based on individual needs and follow-up. Clinical Trials.gov ID:NCT01922635.


Assuntos
Anormalidades Linfáticas , Linfedema , Autogestão , Adolescente , Adulto , Criança , Pré-Escolar , Doença Crônica , Humanos , Pais
17.
Pediatr Radiol ; 51(5): 760-772, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33559726

RESUMO

BACKGROUND: The International Society for the Study of Vascular Anomalies (ISSVA) classification distinguishes between common lymphatic malformations and complex lymphatic anomalies. These entities have overlapping features but differing responses to treatment. Surgery has been the mainstream treatment in intra-abdominal lymphatic malformation, with variable reported success in the literature. OBJECTIVE: The aim of this study was to review the outcome of different treatments for intra-abdominal lymphatic malformations in children. MATERIALS AND METHODS: We retrospectively reviewed all intra-abdominal lymphatic malformations from 1999 to 2019 in children treated by the surgical team or followed in the vascular anomalies clinic of our institution. Children were classified into one of three groups: group A, isolated intra-abdominal lymphatic malformation; group B, common lymphatic malformation in continuity with other regions; or group C, intra-abdominal involvement as part of a complex lymphatic anomaly or associated syndrome. RESULTS: Fifty intra-abdominal lymphatic malformations were diagnosed; five of these were excluded. In group A (n=28), the treatment was surgical resection (n=26) or sclerosing treatment (n=1), with one case of spontaneous regression; no recurrence was observed in 25 patients. In group B (n=7), three patients had partial resection and all had recurrence; four had sclerotherapy alone with good response. In group C (n=10), therapeutic options included surgery, sclerosing treatment and pharmacotherapy, with variable outcomes. CONCLUSION: The management of intra-abdominal malformations requires a team approach. Sclerotherapy is successful in treating macrocystic lymphatic malformation. Surgery is successful in treating isolated intra-abdominal common lymphatic malformation, albeit at times at the cost of intestinal resection, which could be avoided by combining surgery with preoperative sclerotherapy. With surgery there is often limited resectability, and therefore recurrence in intra-abdominal lymphatic malformations that are part of complex lymphatic anomalies associated with syndromes, or in common lymphatic malformations in continuity with other regions. Sclerotherapy is an effective modality in these instances along with pharmacotherapy.


Assuntos
Anormalidades Linfáticas , Malformações Vasculares , Criança , Humanos , Lactente , Anormalidades Linfáticas/diagnóstico por imagem , Anormalidades Linfáticas/terapia , Estudos Retrospectivos , Escleroterapia , Resultado do Tratamento , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/terapia
18.
Pediatr Dermatol ; 38(2): 516-517, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33486776

RESUMO

The net-like superficial lymphatic malformation (LM) is a newly described entity with distinctive clinical, dermoscopic, and histologic characteristics. Clinical picture consists of red to purplish macules with a finely reticulated pattern of vascular structures. Dermoscopy shows arborizing telangiectatic vessels. Histology is characterized by a vascular proliferation composed of thin-walled vessels, located in the upper dermis, that stains positive with podoplanin (D2-40). We report a new case of LM with an additional clinical feature, hypopigmented areas.


Assuntos
Anormalidades Linfáticas , Neoplasias Cutâneas , Telangiectasia , Dermoscopia , Humanos
19.
AJR Am J Roentgenol ; 217(3): 741-752, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-33405944

RESUMO

BACKGROUND. Extensive lymphatic malformations (LMs) may cause substantial morbidity. The mammalian target of rapamycin (mTOR) inhibitor sirolimus shows promise for treating vascular anomalies, although response assessment is not standardized. OBJECTIVE. The purpose of this study was to retrospectively characterize changes seen on MRI of children with extensive LMs treated with sirolimus. METHODS. Twenty-five children treated with sirolimus for extensive LMs were included. Baseline MRI was defined as the MRI examination performed closest to therapy initiation; follow-up MRI was defined as the most recent MRI examination performed while the patient was receiving therapy. Two pediatric radiologists independently determined MRI lesion volume by tracing lesion contours on all slices (normalized to patient body surface area expressed in square meters) and determined signal by placing an ROI on the dominant portion of the lesions (normalized to CSF signal) on baseline and follow-up T2-weighted MRI sequences. Interreader agreement was determined, and values were averaged for further analysis. Volume and signal changes were compared with patient, lesion, and treatment characteristics. RESULTS. The mean (± SD) interval between initiation of sirolimus treatment and follow-up MRI was 22.1 ± 13.8 months. The mean lesion volume index on baseline and follow-up MRI was 728 ± 970 and 345 ± 501 mL/m2, respectively (p < .001). Ninety-two percent of children showed a decrease in lesion volume index that was greater than 10% (mean volume change, -46.4% ± 28.2%). Volume change was inversely correlated with age (r = -0.466; p = .02). The mean volume change was -64.7% ± 25.4% in children younger than 2 years old versus -32.0% ± 21.6% in children 2 years old or older (p = .008). The mean volume change was -58.1% ± 24.0% for craniocervical lesions versus -35.5% ± 28.2% for lesions involving the trunk and/or extremities (p = .03). Mean lesion signal ratio on baseline and follow-up MRI was 0.81 ± 0.29 and 0.59 ± 0.26, respectively (p < .001). Mean signal ratio change was -23.8% ± 22.7%. Volume and signal changes were moderately correlated (r = 0.469; p = .02). Volume and signal changes were not associated with sex, lesion subtype, serum concentration of sirolimus, or the interval between sirolimus initiation and follow-up MRI (p > .05). Interreader agreement for volume index change was excellent (intraclass correlation coefficient, 0.983), and that for signal ratio change was moderate to good (intraclass correlation coefficient, 0.764). CONCLUSION. Sirolimus treatment of extensive LMs in children is associated with significant reductions in volume and signal on T2-weighted MRI. The decrease in volume is greater in younger children and craniocervical lesions. CLINICAL IMPACT. The results may facilitate development of standardized MRI-based criteria for assessing the response of vascular malformations to pharmacotherapy.


Assuntos
Imunossupressores/uso terapêutico , Linfonodos/anormalidades , Linfonodos/diagnóstico por imagem , Anormalidades Linfáticas/tratamento farmacológico , Imageamento por Ressonância Magnética/métodos , Sirolimo/uso terapêutico , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Resultado do Tratamento
20.
Taiwan J Obstet Gynecol ; 60(1): 13-19, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33494985

RESUMO

Abdominal lymphatic malformations (LM) are rare congenital malformations of the lymphatic system, representing only 2% of all LM in newborns. They may arise from intra-abdominal solid organs (such as the liver, pancreas, kidneys, spleen, adrenal glands, and gastrointestinal tract), mesentery, omentum, and retroperitoneum. Mesenteric LM are the most commonly seen, with retroperitoneal LM being the second most common. Fetal abdominal LM could be associated with karyotypic or other abnormalities, including skin edema, hydrops fetalis, and polyhydramnios, and prenatal diagnosis and perinatal counseling for these LM are important. Prenatal ultrasound (US) and magnetic resonance imaging (MRI) have led to an increased diagnosis of abdominal LM and improved monitoring and intervention postnatally. This article provides an overview of fetal abdominal LM, including the prenatal diagnoses, differential diagnoses, comprehensive illustrations of the imaging findings, treatments, and fetal outcomes.


Assuntos
Abdome/embriologia , Anormalidades Linfáticas/diagnóstico , Diagnóstico Pré-Natal/métodos , Abdome/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Anormalidades Linfáticas/embriologia , Imageamento por Ressonância Magnética , Gravidez , Ultrassonografia Pré-Natal
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