Perirenal lymphatics: anatomy, pathophysiology, and imaging spectrum of diseases.

Despite being rarely discussed, perinephric lymphatics are involved in many pathological and benign processes. The lymphatic system in the kidneys has a harmonious dynamic with ureteral and venous outflow, which can result in pathology when this dynamic is disturbed. Although limited by the small size of lymphatics, multiple established and emerging imaging techniques are available to visualize perinephric lymphatics. Manifestations of perirenal pathology may be in the form of dilation of perirenal lymphatics, as with peripelvic cysts and lymphangiectasia. Lymphatic collections may also occur, either congenital or as a sequela of renal surgery or transplantation. The perirenal lymphatics are also intimately involved in lymphoproliferative disorders, such as lymphoma as well as the malignant spread of disease. Although these pathologic entities often have overlapping imaging features, some have distinguishing characteristics that can suggest the diagnosis when paired with the clinical history.

Hamartomatous polyp of the palatine tonsil: histological considerations and review of the literature.

The hamartomatous polyp is a rare benign hamartoma of the palatine tonsil, usually encountered during the second decade of life. It may be reported under various terms in the literature, like lymphangioma of the tonsil, angiofibrolipoma, lymphangiomatous tonsillar polyp and lymphangiectatic fibrous polyp. Macroscopically, it appears as a large, pale, pedunculated mass. Typically, a hamartomatous polyp is asymptomatic or manifests mild symptoms, like foreign body sensation. It is not related to a generalised lymphatic malformation process. Despite its typical appearance, an excisional biopsy is necessary to rule out a malignancy. Histological findings are consistent with a squamous epithelial covering, a core of loose fibrous and adipose tissue with sparse lymphoid aggregations and dilated lymphatic channels filled with lymph and lymphocytes. Several embryologically based theories suggested its pathogenesis; however, recurrent tonsillitis does not play an established role. A typical tonsillectomy is suggested as a sufficient therapeutical approach with no tendency for recurrence.

Diffuse pulmonary lymphangiomatosis involving lungs and mediastinal soft tissue.

Diffuse pulmonary lymphangiomatosis (DPL) is rare in adults. It is characterized by abnormal proliferation, dilatation, and thickening of the lymphatic channels in the lungs, pleura, and mediastinal soft tissue. Here, we report a case of DPL in a young adult man with recurrent productive cough. Chest computed tomography (CT) showed bilateral interlobular septal and peribronchovascular thickening and mediastinal soft tissue infiltration. Lung biopsy through video-assisted thoracic surgery demonstrated proliferation and dilatation of irregular lymphatic spaces, lined by flattened endothelial cells that were positive for CD31, D2-40, and factor VIII-related antigen on immunohistochemical staining. After treatment with propranolol for six months, the chest CT showed improved interlobular septal and peribronchovascular thickening and a unilateral pleural effusion, which turned bloody. Radiologic features can suggest the diagnosis of DPL. Surgical biopsy with adequate section size is critical in the diagnosis. Propranolol might be an effective and safe therapeutic option for patients with DPL.

Renal lymphangiectasia in pediatric population: case series and review of literature.

Renal lymphangiectasia is a rare disorder where perirenal, parapelvic, and/or intra-renal lymphatics are dilated. The clinical presentation of renal lymphangiectasia can range from asymptomatic to renal failure. Ultrasound, computed tomography and magnetic resonance imaging have been used for the diagnosis. Management of such cases varies from conservative to nephrectomy. We report three cases of pediatric renal lymphangiectasia that were managed by recurrent sclerothera-pies and medical supportive treatment at our institution. A literature review is also presented. To the best of our knowledge, there are 83 reported cases in the literature, 60 adults and 23 pediatrics.

Conjunctival Lymphangiectasia - case report.

Conjunctival lymphangiectasia is a rare pathology that represents the enlargement of the lymphatic vessels localized in the conjunctiva. Patients may be asymptomatic or experience symptoms such as foreign body sensation, congestion, irritation, dryness, and blurry vision. There are various methods of therapy for patients with severe and symptomatic conjunctival lymphangiectasia. Surgical excision has the lowest rates of recurrence. We present a case of a 24-year-old woman with conjunctival lymphangiectasia and a history of left lower limb enlargement and bilaterally enlarged submandibular and upper jugular lymph nodes without an identifiable cause, who presented to the ophthalmology clinic accusing ocular discomfort, foreign body sensation and transparent conjunctival cystic lesions in the left eye for the last five months. Abbreviations: OD = right eye, OS = left eye, OCT = optical coherence tomography, VEGF = vascular endothelial growth factor.

Linfangiomatosis pulmonar difusa con compromiso pleural y pericárdico. Reporte de un caso pediátrico / Diffuse pulmonary lymphangiomatosis with pleural and pericardial involvement. Pediatric case report

La linfangiomatosis pulmonar difusa es una enfermedad rara caracterizada por una marcada proliferación y dilatación de los vasos linfáticos en los pulmones, la pleura y el mediastino. Se desconoce la prevalencia, y la etiología no se comprende completamente.Una niña de 22 meses ingresó por poliserositis, con derrame pericárdico y pleural. Requirió pericardiocentesis y avenamiento pleural, y presentó drenaje de quilo (1,5-4 litros/día) sin respuesta al tratamiento médico (ayuno, nutrición parenteral y octreotide). Se realizó biopsia pulmonar. La anatomía patológica mostró hallazgos compatibles con linfangiomatosis difusa pulmonar. Comenzó tratamiento con sirolimus y propanolol, que disminuyeron las pérdidas por el drenaje pleural a la semana. Presentó buena evolución; suspendió aporte de oxígeno y se retiró el drenaje pleural. Se externó al cuarto mes de internación. El diagnóstico temprano de la linfangiomatosis pulmonar difusa es difícil de lograr, pero permite aplicar terapéuticas que evitan la progresión de enfermedad y disminuir la morbimortalida

Diffuse pulmonary lymphangiomatosis is a rare disease characterized by marked proliferation and dilation of lymphatic vessels in the lungs, pleura, and mediastinum. The prevalence is unknown and the etiology is not fully understood.A 22-month-old girl was admitted for polyserositis, with pericardial and pleural effusion. She required pericardiocentesis and pleural drainage, presenting chyle drainage (1.5-4 liters/day) without response to medical treatment (fasting, parenteral nutrition and octreotide). A lung biopsy was performed. The pathological anatomy showed findings compatible with diffuse pulmonary lymphangiomatosis. Treatment with sirolimus and propanolol began, decreasing losses due to pleural drainage one week after treatment. She progressed well, discontinued oxygen supply and pleural drainage was removed, leaving the patient after the fourth month of hospitalization.Early diagnosis of diffuse pulmonary lymphangiomatosis is difficult to achieve, but it allows the application of therapies that prevent disease progression, reducing morbidity and mortality.

Management of visceral vascular anomalies.

Visceral vascular anomalies are common in patients with vascular malformations in other parts of the body and can include lymphatic, venous, and arteriovenous malformations. Depending on the organ or organs involved they may present differently and pose different treatment challenges. Defining the malformation and understanding its extent is paramount in devising management regimens. Medical, interventional, and surgical therapies are often required in combination to treat these complex lesions. There are new and promising advances in the development of therapeutic agents targeting the PI3K/AKT/mTOR pathway. Due to the complex nature of these lesions a coordinated, multi-disciplinary approach is necessary to manage and mitigate symptoms and complications of this diverse group of vascular malformations.

A gene missense mutation in diffuse pulmonary lymphangiomatosis with thrombocytopenia: A case report.

INTRODUCTION: Diffuse pulmonary lymphangiomatosis (DPL) is a rare condition. Most patients with DPL present dyspnea, cough, expectoration, and hemoptysis. There are few reports of DPL accompanied by thrombocytopenia, whose cause remains unknown. PATIENT CONCERNS: An 18-year-old male patient presented with recurrent cough, expectoration, and dyspnea for 5 years, and thrombocytopenia was observed during a 2-month follow-up. DIAGNOSIS: Chest computed tomography showed diffuse patchy shadows in both lungs, and pleural and pericardial effusions. Immunohistochemical lung tissue staining showed lymphatic and vascular endothelial cells positive for D2-40, CD31 and CD34. Routine blood test revealed platelets at 62 × 10 cells/L during follow-up. Bone marrow biopsy was normal. Ultrasound revealed no hepatosplenomegaly. Finally, the patient was diagnosed with DPL accompanied by thrombocytopenia. INTERVENTIONS: He was treated by subtotal pericardial resection, thoracocentesis, and anti-infective therapy. Oral prednisone was administered for 2 months. OUTCOMES: The symptoms of cough and shortness of breath were improved, but thrombocytopenia persisted. We investigated the cause of thrombocytopenia. Whole-exome sequencing identified a mutation in exon 3 of the TNFRSF13B gene in this patient. CONCLUSION: DPL may present with thrombocytopenia and DIC. Patients with thrombocytopenia but not DIC and splenomegaly should be screened for gene mutations.

Linfangiectasia pulmonar congénita primaria como causa de muerte neonatal inesperada / Primary congenital pulmonary lymphangiectasis presenting as sudden newborn

INTRODUCCIÓN: La linfangiectasia pulmonar congénita constituye una entidad poco frecuente, caracterizada por la dilatación congénita de vasos linfáticos pulmonares a distintos niveles. Clínicamente se presenta con insuficiencia respiratoria severa refractaria a tratamiento que aparece en las primeras horas de vida, con elevada mortalidad. CASO CLÍNICO: Presentamos el caso de un recién nacido a término, sin antecedentes de interés, fallecido de forma repentina a las dos horas de vida. La necropsia reveló la presencia de dilataciones quísticas diseminadas en vasos linfáticos pulmonares, sin otras malformaciones asociadas, estableciendo el diagnóstico de linfangiectasia pulmonar congénita primaria como causa de la muerte. DISCUSIÓN: La linfangiectasia pulmonar congénita es una enfermedad rara, de origen desconocido y poco documentada. La forma primaria, limitada al tejido linfático pulmonar, de difícil diagnóstico prenatal, presenta elevada mortalidad

INTRODUCTION: Congenital pulmonary lymphangiectasia is a rare entity characterized by congenital dilatation of pulmonary lymphatics at different levels. Clinically presents with severe respiratory failure refractory to treatment that appears in the first hours of life, with high mortality. CASE REPORT: We report the case of a term infant with no history of interest, who died suddenly after two hours of life. The autopsy revealed the presence of scattered cystic dilations pulmonary lymphatics, without other associated malformations, establishing primary congenital pulmonary lymphangiectasia as the cause of death. DISCUSSION: Congenital pulmonary lymphangiectasia is a rare disease of unknown origin and poorly documented. The primary form, limited to pulmonary lymphatic tissue, prenatal diagnosis is difficult, presents high mortality

Renal Lymphangiectasia in the Transplanted Kidney: Case Series and Literature Review.

BACKGROUND: Renal lymphangiectasia is a rare and poorly understood lymphatic disease associated with lymphatic dilation and leakage. To our knowledge, no cases have been described in the context of a transplanted kidney. METHODS: We describe 2 cases of renal lymphangiectasia in transplanted kidneys, both from pediatric donors. RESULTS: The cases of allograft lymphangiectasia are characterized by severe, symptomatic ascites refractory to attempts at medical and surgical management, and ultimately requiring allograft nephrectomy. CONCLUSIONS: While lymphatic complications, particularly lymphoceles, are not uncommon in renal transplantation, lymphangiectasia is a distinct condition which should be considered in renal transplant patients with ascites, after all other sources have been ruled out.

Vulvar lymphangiectasia secondary to gastrointestinal tuberculosis infection in a teenager.

We report a rare presentation of vulvar lymphangiectasia that developed secondary to gastrointestinal tuberculosis in a teenager, and its spontaneous resolution after anti-tuberculous treatment was completed.

Topical sirolimus 0.1% for treating cutaneous microcystic lymphatic malformations in children and adults (TOPICAL): protocol for a multicenter phase 2, within-person, randomized, double-blind, vehicle-controlled clinical trial.

BACKGROUND: Cutaneous microcystic lymphatic malformations (CMLMs) are rare conditions in children and adults. They present as clusters of vesicles full of lymph and blood to various extents, inducing maceration, esthetic impairment, pain, and impaired quality of life. The treatment is challenging. Sirolimus is an inhibitor of mammalian target of rapamycin (mTOR) involved in angio-lymphangiogenesis. Topical sirolimus has recently been reported as effective in a few reports of patients with CMLMs. The objective is to compare the efficacy and safety of a 12-week application of 0.1% topical sirolimus versus topical vehicle in CMLMs in children and adults. METHODS: This French blinded multicenter within-person randomized controlled phase 2 trial aims to include 55 patients aged ≥ 6 years who have a primary CMLM. The CMLM will be divided into two equal areas that will be randomly allocated to 0.1% topical sirolimus or topical vehicle applied for 12 weeks. At the end of the 12-week period, the patient/parent will treat the whole area of CMLM with 0.1% topical sirolimus on remaining lesions, for eight more weeks. Patients will be seen at week 20 (treatment will be stopped) and at month 12 to evaluate long-term efficacy. The primary outcome will be improvement of the CMLM in the area treated with topical sirolimus compared to the area treated with topical vehicle by the investigator physician (blinded to the treatment) with the Physician Global Assessment score at week 12. Secondary outcomes will include: assessment of efficacy by independent experts on the basis of standardized photographs; impact on quality of life; efficacy for oozing, bleeding, erythema, and thickness evaluated by the investigators; and global efficacy as well as efficacy for functional and aesthetic impairment evaluated by the patient. Systemic passage of sirolimus will be measured at weeks 6, 12, and 20, and at week 16 for CMLMs ≥ 900 cm2. DISCUSSION: For patients with CMLMs, topical sirolimus could be a non-invasive and well-tolerated therapeutic option. If the trial demonstrates efficacy and safety of this treatment, this result will lead to a real change in the management of this condition, and 0.1% sirolimus cream would become the first-line treatment. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03972592. Registered on 3 June 2019. EU Clinical Trials Register EudraCT, 2018-001359-11.

Diffuse pulmonary lymphangiomatosis: A rare case report in an adult.

RATIONALE: Diffuse pulmonary lymphangiomatos (DPL) is a rare aggressive lymphatic disorder characterized by proliferation of anastomozing lymphatic vessels and extremely rare in adult patients. PATIENT CONCERNS: We report a case of diffuse pulmonary lymphangiomatosis in 59-year-old man presented with cough and sputum for 2 months. DIAGNOSES: Combining clinical manifestations with results of radiological, bronchoscopy, and surgical lung biopsy, it was consistent with the diagnosis of DPL. INTERVENTIONS: After bronchoalveolar lavage and biopsy, symptom of cough got worse suddenly accompanied by excessive chyloptysis. The patient received an emergency surgical intervention and low fat medium chain fat treatment. OUTCOMES: The patient was discharged with a much better health condition. LESSONS: This case report is the oldest patient reported in the English literature, to the best of our knowledge. Serious complications of bronchoscopy should be considered, especially in DPL patients with severely enlarged mediastinum or with thin-walled translucent vesicles under endoscopy.

Thoracic involvement of diffuse lymphangiomatosis successfully treated with sildenafil.

General lymphatic anomaly (GLA) is a very rare disorder, characterised by multifocal lymphatic malformations into various tissues that is due to congenital abnormalities of lymphatic development. No treatment has ever proved its efficiency.We report a 22-year-old man with recurrent bronchial casts due to thoracic involvement of GLA. After a 6-month treatment with sildenafil (20 mg three times a day), a phosphodiesterase 5 inhibitor, chest CT scan showed a complete regression of ground-glass opacities and lung function test results improved substantially and remained stable for 1 year. The treatment was well tolerated.This observation suggests that sildenafil may be a therapeutic approach to be tested in thoracic involvement of GLA.