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The Journal of Dermatology Jan 2021
Topics: Female; Humans; Infant; Lymphedema; Mutation; Vascular Endothelial Growth Factor Receptor-3
PubMed: 32991753
DOI: 10.1111/1346-8138.15627 -
Indian Pediatrics May 1970
Topics: Child, Preschool; Humans; Lymphedema; Male
PubMed: 5478381
DOI: No ID Found -
Annals of the New York Academy of... 2008The phenotypic entities of primary lymphedema vary in age of onset, site of edema, associated features, inheritance patterns, and underlying genetic cause. Determining... (Review)
Review
The phenotypic entities of primary lymphedema vary in age of onset, site of edema, associated features, inheritance patterns, and underlying genetic cause. Determining the representative phenotype for different types of genetically determined primary lymphedema has been successfully achieved with Milroy's disease and the lymphedema-distichiasis syndrome. Here we describe and illustrate their well-delineated phenotypes. Phenotype characterization facilitates the identification of causative genes, as has been demonstrated with VEGFR3 and FOXC2, in Milroy's disease and lymphedema-distichiasis respectively. Other forms of primary lymphedema are discussed.
Topics: DNA-Binding Proteins; Eyelashes; Humans; Lymphedema; Phenotype; Transcription Factors
PubMed: 18519967
DOI: 10.1196/annals.1413.013 -
British Medical Journal (Clinical... Aug 1986
Topics: Humans; Lymphedema
PubMed: 3089515
DOI: 10.1136/bmj.293.6543.347 -
Stomatologiia 2021The article is a review of the latest literature data on lymphedema of the head and neck, its etiology, pathogenesis, classification and main clinical manifestations.... (Review)
Review
The article is a review of the latest literature data on lymphedema of the head and neck, its etiology, pathogenesis, classification and main clinical manifestations. The main methods of diagnosis and treatment of this pathology are indicated.
Topics: Head; Head and Neck Neoplasms; Humans; Lymphedema; Neck
PubMed: 34180633
DOI: 10.17116/stomat2021100031103 -
American Journal of Medical Genetics.... Jun 2007Milroy disease, also known as primary congenital lymphedema, is a hereditary form of lymphedema with autosomal dominant inheritance. Individuals with Milroy disease are...
Milroy disease, also known as primary congenital lymphedema, is a hereditary form of lymphedema with autosomal dominant inheritance. Individuals with Milroy disease are typically characterized by congenital onset of lymphedema of the lower limbs due to hypoplasia of the lymphatic vessels. The genetic basis of most cases of Milroy disease has not been established, although mutations in the vascular endothelial growth factor receptor VEGFR3 (FLT-4) are responsible for some cases with 17 mutations described to date. In this report, we describe a novel VEGFR3 mutation in exon 22 in a four-generation family in which congenital lymphedema segregates in an autosomal dominant manner. In addition to lymphedema, affected family members had other clinical manifestations associated with Milroy disease including hydrocele, ski jump toenails, large caliber veins, and subcutaneous thickening. We screened VEGFR3 for mutations which revealed a novel 3059A>T transversion in exon 22 resulting in Q1020L missense mutation in the second tyrosine kinase domain of VEGFR3. This mutant allele segregated with lymphedema among affected individuals with incomplete penetrance. This is the first report of an exon 22 mutation in Milroy disease.
Topics: Amino Acid Sequence; Base Sequence; Conserved Sequence; DNA Mutational Analysis; Exons; Female; Humans; Lymphedema; Male; Molecular Sequence Data; Mutation; Pedigree; Vascular Endothelial Growth Factor Receptor-3
PubMed: 17458866
DOI: 10.1002/ajmg.a.31703 -
Anales de Pediatria (Barcelona, Spain :... Mar 2017
Topics: Humans; Infant, Newborn; Lymphedema; Male
PubMed: 26818397
DOI: 10.1016/j.anpedi.2015.12.007 -
Angiology Feb 1983
Topics: Bandages; Exercise Therapy; Female; Humans; Lymphatic System; Lymphedema; Male; Massage; Posture; Radiography
PubMed: 6824198
DOI: 10.1177/000331978303400202 -
Journal of the Royal College of... Jun 1986
Topics: Adolescent; Adult; Aged; Child; Chromosome Aberrations; Chromosome Disorders; Female; Humans; Infant; Lymphedema; Male; Pedigree; Saudi Arabia
PubMed: 3772853
DOI: No ID Found -
In Vivo (Athens, Greece) 2010Milroy's primary congenital lymphedema is a non-syndromic primary lymphedema caused mainly by autosomal dominant mutations in the FLT4 (VEGFR3) gene. Here, we report on... (Review)
Review
Milroy's primary congenital lymphedema is a non-syndromic primary lymphedema caused mainly by autosomal dominant mutations in the FLT4 (VEGFR3) gene. Here, we report on a 6-month-old boy with congenital non-syndromic bilateral lymphedema at both feet and tibias, who underwent molecular investigation, consisted of PCR amplification and DHPLC analysis of exons 17-26 of the FLT4 gene. The clinical diagnosis of Milroy disease was confirmed by molecular analysis showing the c.3109G>C mutation in the FLT4 gene, inherited from the asymptomatic father. This is a known missense mutation, which substitutes an aspartic acid into a histidine on amino acid position 1037 of the resulting protein (p.D1037H), described in two other families with Milroy disease. A thorough genetic molecular investigation and clinical evaluation contributes to the provision of proper genetic counseling for parents of an affected child with Milroy disease. The herein described case, which is the third reported so far with c.3109G>C mutation, adds data on genotypic-phenotypic correlation of Milroy disease. The relative literature regarding the pathophysiology, molecular basis, clinical spectrum and treatment of Milroy disease is reviewed.
Topics: Foot; Genotype; Humans; Infant; Lymphedema; Male; Phenotype; Point Mutation; Vascular Endothelial Growth Factor Receptor-3
PubMed: 20555004
DOI: No ID Found