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Pediatric Dermatology Sep 2022Milroy disease is a form of congenital primary lymphedema that usually affects the lower limbs. Predominant genital lymphedema in Milroy disease is uncommon and...
Milroy disease is a form of congenital primary lymphedema that usually affects the lower limbs. Predominant genital lymphedema in Milroy disease is uncommon and disabling. When conservative management is ineffective, surgical treatment becomes necessary. Here, we present a rare case of congenital primary penile lymphedema in a 4-year-old child.
Topics: Child, Preschool; Humans; Lymphedema; Male; Penile Diseases; Penis
PubMed: 35510811
DOI: 10.1111/pde.15025 -
Journal of Surgical Oncology Jan 2020Milroy disease is a form of congenital primary lymphedema affecting the lower limbs. When conservative management is ineffective, surgical treatment becomes necessary....
BACKGROUND AND OBJECTIVES
Milroy disease is a form of congenital primary lymphedema affecting the lower limbs. When conservative management is ineffective, surgical treatment becomes necessary. The purpose of this study was to investigate the efficacy of vascularized lymph node transfer (VLNT) associated with extensive therapeutic lipectomy in the treatment of these patients.
METHODS
In China Medical University Hospital, four patients have been diagnosed with Milroy disease and treated over an 8 year-period time. All patients presented with hereditary bilateral legs swelling since birth. All patients were treated with VLNT from the gastroepiploic region bilaterally associated with extensive therapeutic lipectomy.
RESULTS
All procedures have been executed bilaterally and have been successful, without complications. The average follow-up of the patients was 20.2 ± 2.8 months. The limbs treated presented an average circumference reduction of a 4.0 ± 2.1 cm and patients did not experience cellulitis during follow-up. Patients expressed satisfaction with the procedure.
CONCLUSIONS
VLNT together with therapeutic lipectomy proved to be a reliable technique in moderate cases of Milroy disease, providing an alternative path for lymph drainage, and reducing the lymph load and the excess of subcutaneous adipose tissues, thus improving patients' quality of life.
Topics: Adolescent; Female; Humans; Leg; Lipectomy; Lymph Nodes; Lymphedema; Male
PubMed: 31165487
DOI: 10.1002/jso.25583 -
Journal of Medical Genetics Feb 2005Primary congenital lymphoedema (Milroy disease) is a rare autosomal dominant condition for which a major causative gene defect has recently been determined. Mutations in... (Review)
Review
Primary congenital lymphoedema (Milroy disease) is a rare autosomal dominant condition for which a major causative gene defect has recently been determined. Mutations in the vascular endothelial growth factor receptor 3 (VEGFR-3) gene have now been described in 13 families world-wide. This is a review of the condition based on the clinical findings in 71 subjects from 10 families. All 71 individuals have a mutation in VEGFR-3. Ninety per cent of the 71 individuals carrying a VEGFR-3 mutation showed signs of oedema, which was confined in all cases to the lower limbs. In all but two cases onset of swelling was from birth. Other symptoms and signs included cellulitis (20%), large calibre leg veins (23%), papillomatosis (10%), and upslanting toenails (10%). In males, hydrocoele was the next most common finding after oedema (37%). Thorough clinical examination of these patients indicates that there are few clinical signs in addition to lower limb oedema. Rigorous phenotyping of patients produces a high yield of VEGFR-3 mutations.
Topics: Adult; Age of Onset; Female; Genetic Carrier Screening; Humans; Lymphedema; Male; Mutation; Nails, Malformed; Papilloma; Phenotype; Saphenous Vein; Urogenital Abnormalities; Varicose Veins; Vascular Endothelial Growth Factor Receptor-3
PubMed: 15689446
DOI: 10.1136/jmg.2004.024802 -
Journal of the American Academy of... Dec 2017Lymphedema is a localized form of tissue swelling resulting from excessive retention of lymphatic fluid in the interstitial compartment and caused by impaired lymphatic... (Review)
Review
Lymphedema is a localized form of tissue swelling resulting from excessive retention of lymphatic fluid in the interstitial compartment and caused by impaired lymphatic drainage. Lymphedema is classified as primary or secondary. Primary lymphedema is caused by developmental lymphatic vascular anomalies. Secondary lymphedema is acquired and arises as a result of an underlying systemic disease, trauma, or surgery. We performed PubMed and Google Scholar searches of the English-language literature (1966-2017) using the terms lymphedema, cancer-related lymphedema, and lymphatic complications. Relevant publications were manually reviewed for additional resources. This progressive chronic disease has serious implications on patients' quality of life. It is often misdiagnosed because it mimics other conditions of extremity swelling. There is no definitive cure for lymphedema. However, with proper diagnosis and management, its progression and potential complications may be limited.
Topics: Humans; Lymphedema
PubMed: 29132848
DOI: 10.1016/j.jaad.2017.03.022 -
Journal of the American Medical... Oct 1951
Topics: Edema; Humans; Lymphedema
PubMed: 14873523
DOI: 10.1001/jama.1951.73670240014006f -
JAMA May 1968
Topics: Humans; Lymphedema
PubMed: 5694593
DOI: 10.1001/jama.1968.03140220080030 -
Wounds : a Compendium of Clinical... Mar 2020The lymphatic system is arguably the most neglected bodily system. As a result, its contribution to human health and disease is not well understood. In this review, the... (Review)
Review
The lymphatic system is arguably the most neglected bodily system. As a result, its contribution to human health and disease is not well understood. In this review, the clinical approaches based on new knowledge and developments of the lymphatic system are covered. The lymphatic system has 3 major functions: (1) the preservation of fluid balance; (2) a nutritional function, as intestinal lymphatics are responsible for fat absorption; and (3) host defense. Lymph vessels return the capillary ultrafiltrate and escaped plasma proteins from most tissues back, ultimately, to the blood circulation. Hence, lymphatics are responsible for maintaining tissue (and plasma) volume homeostasis. Impaired lymph drainage results in peripheral edema (lymphedema) and may have more far-reaching effects on cardiovascular disease, in particular hypertension and atherosclerosis. Lymphatics have an important immune surveillance function, as they represent the principal route of transport from tissues for antigen and immune cells. Intestinal lymphatics (lacteals) are responsible for most fat absorption, first documented by Gaspare Aselli in 1627, when the lymphatic system was discovered. A relationship between fat and lymphatics may exist well beyond the gut alone. Fat deposition is a defining clinical characteristic of lymphedema. Suction-assisted lipectomy of lymphedema has shown the swelling is not just fluid but is dominated by fat. Lymphatics are the preferred route for the metastatic spread of cancer. Accordingly, the lymphatic system may be important for defense against cancer by generating immune responses to malignant cell antigens. Preventing lymphatic entry and propagation of malignant metastasis would effectively render the cancer nonfatal. As one can see, the lymphatic circulation is fundamentally important to cardiovascular disease, infection and immunity, cancer, and, in all likelihood, obesity - 4 of the major challenges to health care in the 21st century.
Topics: Humans; Lymphatic System; Lymphedema; Lymphoscintigraphy
PubMed: 32163039
DOI: No ID Found -
La Revue de Medecine Interne Feb 2017Lymphedema results from impaired lymphatic transport with increased limb volume. Lymphedema are divided in primary and secondary forms. Upper-limb lymphedema secondary... (Review)
Review
Lymphedema results from impaired lymphatic transport with increased limb volume. Lymphedema are divided in primary and secondary forms. Upper-limb lymphedema secondary to breast cancer treatment is the most frequent in France. Primary lymphedema is sporadic, rarely familial or associated with complex malformative or genetic disorders. Diagnosis of lymphedema is mainly clinical and lymphoscintigraphy is useful in primary form to assess precisely the lymphatic function of the two limbs. Erysipelas (cellulitis) is the main complication, but psychological or functional discomfort may occur throughout the course of lymphedema. Lipedema is the main differential diagnosis, defined as an abnormal accumulation of fat from hip to ankle. Lymphedema management is based on complete decongestive physiotherapy (multilayer low-stretch bandage, manual lymph drainage, skin care, exercises). The first phase of treatment leads to a reduction of lymphedema volume and the second phase stabilizes the volume. Multilayer low-stretch bandage and elastic compression is the cornerstone of the complete decongestive physiotherapy. Patient-education programs, including self-management, aim to improve patient autonomy.
Topics: Bandages; Exercise Therapy; Extremities; France; Genetic Predisposition to Disease; Humans; Lymphatic System; Lymphedema; Physical Therapy Modalities; Risk Factors
PubMed: 27591818
DOI: 10.1016/j.revmed.2016.07.005 -
Clinical & Experimental Metastasis Aug 2018This summit focusing on lymphedema following cancer therapy was held during the 7th International Symposium on Cancer Metastasis through the Lymphovascular System. It... (Review)
Review
This summit focusing on lymphedema following cancer therapy was held during the 7th International Symposium on Cancer Metastasis through the Lymphovascular System. It was unique for the inclusion of patients with lymphedema joining physicians, therapists, healthcare professionals, and researchers to highlight what is known and more importantly what is unknown about the current state of research and treatment in the United States. The session opened with an introduction to lymphedema and then explored the incidence of multiple cancer-related lymphedemas, imaging tools and techniques useful for the diagnosis of lymphatic system abnormalities, and the new findings concerning the genetics of cancer-related lymphedema. It closed with a review of advocacy for patients and healthcare professionals and both conservative and surgical treatment options, followed by a panel discussion and questions. The session provided important information and updates which will be of value for improving the rehabilitation and overall support of patients with cancer-related lymphedema.
Topics: Health Personnel; Humans; Lymphatic System; Lymphedema; Neoplasms
PubMed: 29774452
DOI: 10.1007/s10585-018-9899-5 -
Lymphatic Research and Biology Dec 2019Primary lymphedema is genetically heterogeneous. Two of the most common forms of primary lymphedema are Milroy disease (MD) and lymphedema-distichiasis syndrome (LDS)....
Primary lymphedema is genetically heterogeneous. Two of the most common forms of primary lymphedema are Milroy disease (MD) and lymphedema-distichiasis syndrome (LDS). This study aims to look further into the pathogenesis of the two conditions by analyzing the lymphoscintigram images from affected individuals to ascertain if it is a useful diagnostic tool. The lymphoscintigrams of patients with MD and LDS were analyzed, comparing the images and transport parameters of the two genotypes against a control population. Lymphoscintigrams were available for 12 MD and 16 LDS patients (all genetically proven diagnoses). Eight of the 12 (67%) lymph scans performed on patients with MD demonstrated little or no uptake from the initial lymphatics and poor visualization of the inguinal lymph nodes. These changes were consistent with a "functional aplasia," that is, the lymphatic vessels were present but appeared to be ineffective in absorbing the interstitial fluid into the lymphatic system. In patients with LDS the lymphoscintigraphic appearances were different. In 12 of the 16 scans (75%), the lymph scans were highly suggestive of lymphatic collector reflux. Quantification revealed a significantly reduced uptake of tracer within the inguinal lymph nodes and a higher residual activity in the feet at 2 hours in MD compared with LDS and compared with controls. Lymphoscintigraphic imaging and quantification can be characteristic in specific genetic forms of primary lymphedema and may be useful as an additional tool for in-depth phenotyping, leading to a more accurate diagnosis and providing insight into the underlying mechanism of disease.
Topics: Adult; Eyelashes; Female; Humans; Lymph Nodes; Lymphatic Abnormalities; Lymphatic Vessels; Lymphedema; Lymphoscintigraphy; Male; Middle Aged; Phenotype; Retrospective Studies
PubMed: 31721633
DOI: 10.1089/lrb.2019.0016