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Congenital Lymphedema

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1. Near-Infrared Fluorescence Lymphatic Imaging of a Toddler With Congenital Lymphedema. (PubMed)

Near-Infrared Fluorescence Lymphatic Imaging of a Toddler With Congenital Lymphedema. Primary lymphedema in the pediatric population remains poorly diagnosed and misunderstood due to a lack of information on the causation and underlying anatomy of the lymphatic system. Consequently, therapeutic protocols for pediatric patients remain sparse and with little evidence to support them. In an effort to better understand the causation of primary pediatric lymphedema and to better inform clinical care (...) , we report the use of near-infrared fluorescence lymphatic imaging on the extremities of an alert, 21-month-old boy who presented with unilateral right arm and hand lymphedema at birth. The imaging results indicated an intact, apparently normal lymphatic anatomy with no obvious malformation, but with decreased lymphatic contractile function of the affected upper extremity relative to the contralateral and lower extremities. We hypothesized that the lack of contraction of the lymphatic vessels

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2017 Pediatrics

2. An unusual case of Corynebacterium striatum endocarditis in a patient with congenital lymphedema and rheumatic heart disease (PubMed)

An unusual case of Corynebacterium striatum endocarditis in a patient with congenital lymphedema and rheumatic heart disease Corynebacterium striatum (C. striatum) is a ubiquitous saprophyte with a potential to cause bacteremia. We report the first case of C. striatum endocarditis in a patient with congenital lymphedema and rheumatic heart disease.Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

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2016 Indian heart journal

3. Congenital Lymphedema

Congenital Lymphedema Congenital Lymphedema Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Congenital Lymphedema Congenital (...) Lymphedema Aka: Congenital Lymphedema , Lymphedema Congenita , Milroy's Disease II. Epidemiology Onset within first two years of life III. See Also IV. Definition Severe onset at birth or as infant Milroy's Disease is a famial subtype V. Signs Lower extremity edema Right leg more often affected Bilateral involvement in 25% of cases Involves foot dorsum up to knee VI. Associated Conditions Swelling of external genitalia Intestinal lymphangiectasia, protein-losing Pulmonary lymphangiectasia VII. References

2018 FP Notebook

4. Vascularized lymph node transfer from thoracodorsal axis for congenital and post filarial lymphedema of the lower limb. (PubMed)

Vascularized lymph node transfer from thoracodorsal axis for congenital and post filarial lymphedema of the lower limb. Vascularized lymph node transfer is becoming a popular method to treat lymphedema. We have performed vascularized lymph node transfer for two patients, one with congenital and the other with post filarial lymphedema of the lower limb. Lymph node transfer was performed from the thoracodorsal axis. Both cases exhibited improved results in both limb circumference and quality

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2016 Journal of Surgical Oncology

5. Unilateral Primary Congenital Lymphedema of the Upper Limb in an 11-Month-Old Infant: A Clinical and Pharmacological Perspective (PubMed)

Unilateral Primary Congenital Lymphedema of the Upper Limb in an 11-Month-Old Infant: A Clinical and Pharmacological Perspective Lymphedema is the accumulation of a protein-rich fluid in the interstitial space due to reduced lymph transport capacity. Congenital primary lymphedema affecting only one of the upper limbs is a rarity.We present a case of an 11-month-old infant presenting with swelling of the right upper limb, which had gradually progressed over the past five months (...) . Lymphoscintigraphy was suggestive of lymphatic blockade in the right upper limb. All other investigations were within normal limits. A diagnosis of primary congenital lymphedema affecting the right upper limb was made. The patient was managed conservatively with complex decongestive therapy and was requested regular follow-up. The lymphedema did not increase within four months of follow-up.Complex decongestive therapy is the cornerstone of the management of primary congenital lymphedema. New investigational

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2018 Open access Macedonian journal of medical sciences

6. Genetic tests in lymphatic vascular malformations and lymphedema. (PubMed)

Genetic tests in lymphatic vascular malformations and lymphedema. Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as locus heterogeneity. The aim of this review is to provide a comprehensive clinical genetic description of lymphatic malformations and the techniques used for their diagnosis, and to propose a flowchart for genetic testing. Literature and database searches (...) were performed to find conditions characterised by lymphatic malformations or the predisposition to lymphedema after surgery, to identify the associated genes and to find the guidelines and genetic tests currently used for the molecular diagnosis of these disorders. This search allowed us to identify several syndromes with lymphatic malformations that are characterised by a great heterogeneity of phenotypes, alleles and loci, and a high frequency of sporadic cases, which may be associated

2018 Journal of Medical Genetics

7. Complex decongestive physical therapy and low-level laser therapy for the treatment of pediatric congenital lymphedema: a case report (PubMed)

Complex decongestive physical therapy and low-level laser therapy for the treatment of pediatric congenital lymphedema: a case report [Purpose] We report the case of a pediatric patient with congenital lymphedema treated with complex decongestive physical therapy and low-level laser therapy. [Subjects and Methods] The patient was a 2 year-old girl who had lymphedema in the left upper limb since birth. Complex decongestive physical therapy and low-level laser therapy were administered for 7 (...) sessions. [Results] The circumferences of the middle of the forearm, elbow joint, wrist, and hand of the left upper limb decreased 0.5, 3, 0.5, and 2 cm, respectively. The moisture content of the left upper limb decreased 70 mL (6.66%), while moisture ratio increased by 0.007%. [Conclusion] Complex decongestive physical therapy and low-level laser therapy are effective for reducing lymphedema in pediatric patients.

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2015 Journal of physical therapy science

8. Vascularized Lymph Node Flap Transfer and Lymphovenous Anastomosis for Klippel-Trenaunay Syndrome with Congenital Lymphedema (PubMed)

Vascularized Lymph Node Flap Transfer and Lymphovenous Anastomosis for Klippel-Trenaunay Syndrome with Congenital Lymphedema A female patient with Klippel-Trenaunay syndrome, including hypertrophic bone and soft tissue in the forelimbs, bilateral lower limbs lymphedema, port-wine stains, and superficial veins of Servelle, was presented. The diagnosis of lymphedema was confirmed by lymphoscintigraphy and indocyanine green lymphography. The novel treatments consisted of vascularized lymph node

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2014 Plastic and Reconstructive Surgery Global Open

9. Cervical Stimulation in the Treatment of Children with Lymphedema of All Four Extremities: A Case Report and Literature Review (PubMed)

of two girls, one of eight months and the other of six months, with primary congenital lymphedema are described. Outcome. After clinical diagnosis, the patients started treatment with cervical stimulation three times per week. The mothers were trained in cervical stimulation and, when the therapy team was confident about the mothers' ability to perform the technique, the children began to be treated at home. The Godoy & Godoy cervical stimulation technique consists of around 20 to 30 light stroking (...) . Conclusion. Cervical Lymphatic Therapy as monotherapy is an option in the treatment of primary congenital lymphedema.

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2017 Case reports in pediatrics

10. Microsurgical Treatment of Breast Cancer-related Lymphedema by Lymphaticovenous Anastomosis

green (ICG) lymphography Already received at least three months of complex decongestive therapy (CDT) prior to inclusion Primary breast cancer Unilateral lymphedema Informed consent Exclusion Criteria: Male sex Late stage lymphedema of the arm (ISL classification IIb/III lymphedema) with evident fat deposition and/or fibrosis History of earlier lymph reconstruction efforts Recurrent breast cancer Distant breast cancer metastases Bilateral lymphedema Primary congenital lymphedema Non-viable lymphatic (...) Microsurgical Treatment of Breast Cancer-related Lymphedema by Lymphaticovenous Anastomosis Microsurgical Treatment of Breast Cancer-related Lymphedema by Lymphaticovenous Anastomosis - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more

2016 Clinical Trials

11. Ubenimex in Adult Patients With Lymphedema of The Lower Limb (ULTRA)

Volunteers: No Criteria Inclusion Criteria: Has a diagnosis of secondary leg lymphedema, based on a positive lymphoscintigraphy (LSG) study of the affected leg OR has a diagnosis of primary lymphedema not of congenital onset affecting one or both lower limbs, based on positive LSG. Swelling of at least 1 leg not completely reversed by leg elevation or compression. Stage II or greater lymphedema, based on the International Society of Lymphology (ISL) staging system. Completion of a full course of complete (...) aid is permitted). Agree to use a medically acceptable method of contraception, if the possibility of conception exists. Exclusion Criteria: Exclusions Based on Lymphedema: A diagnosis of primary lymphedema with congenital onset. Primary lymphedema is defined as lymphedema with onset prior to or without an inciting event (e.g, surgery, trauma, radiation) Occurrence of significant lymphedema of another body part that is not the lower limb (e.g, upper extremity, trunk, head and neck, genitalia

2016 Clinical Trials

12. Cutaneous Epithelioid Clear Cells Angiosarcoma in a Young Woman with Congenital Lymphedema (PubMed)

Cutaneous Epithelioid Clear Cells Angiosarcoma in a Young Woman with Congenital Lymphedema Angiosarcomas are rare aggressive neoplasms that can occur secondary to chronic lymphedema (Stewart-Treves syndrome). Although secondary angiosarcomas are commonly described after-mastectomy and/or after-radiotherapy, few cases have been reported in association with chronic lymphedema of congenital origin. We report the clinical, pathological, and cytogenetic findings in a case of cutaneous epithelioid (...) clear cells angiosarcoma that occurred in a 21-year-old woman with hemibody congenital lymphedema. Surgical biopsies of the tumor mass revealed diffuse epithelioid proliferation of clear atypical cells, for which immunophenotyping highlighted the vascular differentiation. Despite en bloc resection of the tumor, the patient died of metastatic disease three months after diagnosis. This case illustrates the clinical and pathology characteristics of angiosarcoma that is a rare entity secondary

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2013 Case Reports in Pathology

13. Lymphedema (PDQ®): Health Professional Version

status, decreased range of motion, age, and obesity are taken into account.[ ] This summary will review issues related to anatomy and pathophysiology of lymphedema related to cancer, its clinical manifestations, diagnosis, and treatment. Primary (congenital) lymphedema and non–cancer-related lymphedema (e.g., recurrent cellulitis, connective tissue disease, and infection) will not be reviewed here. In this summary, unless otherwise stated, evidence and practice issues as they relate to adults (...) Lymphedema (PDQ®): Health Professional Version Lymphedema (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf Warning: The NCBI web site requires JavaScript to function. Search database Search term Search NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002-. PDQ Cancer Information Summaries [Internet]. Bethesda (MD): ; 2002-. Search term Lymphedema

2015 PDQ - NCI's Comprehensive Cancer Database

14. The Godoy & Godoy Cervical Stimulation Technique in the Treatment of Primary Congenital Lymphedema (PubMed)

The Godoy & Godoy Cervical Stimulation Technique in the Treatment of Primary Congenital Lymphedema THE AIM OF THE CURRENT STUDY IS TO REPORT ON THE TREATMENT OF PRIMARY LYMPHEDEMA USING A NEW FORM OF THERAPY: cervical stimulation. In a prospective cohort study, 9 boys and 5 girls with primary congenital lymphedema were evaluated over two years. Age ranged from two months to 8.5 years. After diagnosis, all mothers were trained in the new technique. The Godoy & Godoy cervical stimulation (...) stimulation is a new option in the treatment of primary congenital lymphedema; its association with compression stockings has a synergistic effect in reducing the volume of lymphedema.

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2012 Pediatric reports

15. Congenital Lymphedema

Congenital Lymphedema Congenital Lymphedema Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Congenital Lymphedema Congenital (...) Lymphedema Aka: Congenital Lymphedema , Lymphedema Congenita , Milroy's Disease II. Epidemiology Onset within first two years of life III. See Also IV. Definition Severe onset at birth or as infant Milroy's Disease is a famial subtype V. Signs Lower extremity edema Right leg more often affected Bilateral involvement in 25% of cases Involves foot dorsum up to knee VI. Associated Conditions Swelling of external genitalia Intestinal lymphangiectasia, protein-losing Pulmonary lymphangiectasia VII. References

2015 FP Notebook

16. Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy. (PubMed)

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy. We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema from a microcephaly-lymphedema-chorioretinal-dysplasia cohort. Subsequent Sanger (...) sequencing of KIF11 in a further 15 unrelated microcephalic probands with lymphedema and/or chorioretinopathy identified additional heterozygous mutations in 12 of them. KIF11 encodes EG5, a homotetramer kinesin motor. The variety of mutations we have found (two nonsense, two splice site, four missense, and six indels causing frameshifts) are all predicted to have an impact on protein function. EG5 has previously been shown to play a role in spindle assembly and function, and these findings highlight

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2012 American Journal of Human Genetics

17. A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon (PubMed)

A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon Lymphedema is characterized by chronic swelling of any body part caused by malfunctioning or obstruction in the lymphatic system. Primary lymphedema is often considered genetic in origin. VEGFC, which is a gene encoding the ligand for the vascular endothelial growth factor receptor 3 (VEGFR3/FLT4) and important for lymph vessel development during lymphangiogenesis, has been associated (...) with a specific subtype of primary lymphedema. Through Sanger sequencing of a proband with bilateral congenital pedal edema resembling Milroy disease, we identified a novel mutation (NM_005429.2; c.361+5G>A) in VEGFC. The mutation induced skipping of exon 2 of VEGFC resulting in a frameshift and the introduction of a premature stop codon (p.Ala50ValfsTer18). The mutation leads to a loss of the entire VEGF-homology domain and the C-terminus. Expression of this Vegfc variant in the zebrafish floorplate showed

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2018 International journal of molecular sciences

18. Management of congenital lymphedema in infants and children. (PubMed)

Management of congenital lymphedema in infants and children. 4692115 1973 05 15 2018 11 13 0003-4932 177 3 1973 Mar Annals of surgery Ann. Surg. Management of congenital lymphedema in infants and children. 280-5 Fonkalsrud E W EW Coulson W F WF eng Journal Article United States Ann Surg 0372354 0003-4932 0 Diuretics AIM IM Bandages Child Child, Preschool Diuretics therapeutic use Female Forearm abnormalities Humans Infant Infant, Newborn Leg abnormalities Lymph Nodes pathology Lymphangitis (...) complications Lymphedema complications congenital pathology surgery Lymphography Male 1973 3 1 1973 3 1 0 1 1973 3 1 0 0 ppublish 4692115 PMC1355528 Surg Gynecol Obstet. 1967 Apr;124(4):755-65 6019288 Br J Plast Surg. 1965 Jan;18:12-25 14256821 J Pediatr Surg. 1969 Apr;4(2):231-6 5778343 Br J Surg. 1966 Nov;53(11):917-25 5921446 Br J Surg. 1957 Jul;45(189):1-9 13510649 Surg Gynecol Obstet. 1967 Sep;125(3):607-10 6035792 Surg Clin North Am. 1967 Apr;47(2):445-503 6022236

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1973 Annals of Surgery

19. Lymphedema After Primary Surgery for Endometrial Cancer

: Sarcoma of the uterus Previous pelvic or paraaortic lymphadenectomy. Previous having had pelvic radiation therapy. Ongoing treatment of arterial or venous insufficiency of the lower limbs Congenital or acquired malformations in the lymphatic system. Ongoing or previous treatment of lymphedema of the upper or lower limbs. Physically disability which impair mobilisation immediately postoperatively. Severe psychiatric disease and untreated mild/moderate psychiatric disease. Mentally retarded to a degree (...) Lymphedema After Primary Surgery for Endometrial Cancer Lymphedema After Primary Surgery for Endometrial Cancer - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Lymphedema After Primary Surgery

2014 Clinical Trials

20. Lymphedema in a 7-year-old boy infected with Wuchereria bancrofti in Sierra Leone: A case report. (PubMed)

Lymphedema in a 7-year-old boy infected with Wuchereria bancrofti in Sierra Leone: A case report. We present a case of congenital lymphedema in a 7-year-old boy in Sierra Leone with active filarial infection and penile edema. The genital edema with onset at 6 months of age may have been due to a congenital abnormality in lymphatic drainage. Other possible causes of childhood lymphedema, including Milroy's disease, are discussed. Copyright © 2014 The Authors. Published by Elsevier B.V. All

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2014 Acta Tropica

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