Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome
نویسندگان
چکیده
منابع مشابه
Four Generations of Rare Familial Lymphedema (Milroy Disease)
OBJECTIVE To report a rare case of familial lymphedema (Milroy disease) affecting 4 generations of individuals. CLINICAL PRESENTATION AND INTERVENTION A 28-year-old woman presented with bilateral pedal edema which she had since birth. A detailed evaluation including blood counts, metabolic panel and imaging studies ruled out secondary causes of lymphedema. The family history revealed many aff...
متن کاملDifferent lymphscintigraphic patterns in patients with lymphedema distichiasis.
Mutation of the transcription factor FOXC2 gene has been identified as the cause of lymphedema-distichiasis syndrome (LD). Subjects with LD usually present with lower extremity lymphedema and distichiasis--an additional row of eyelashes. Typically, lymphscintigrams of patients with LD show good transport of the radiotracer from the feet to the inguinal lymph nodes accompanied by reflux of trace...
متن کاملFOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function
Dominant mutations in the FOXC2 gene cause a form of lymphedema primarily of the limbs that usually develops at or after puberty. In 90-95% of patients, lymphedema is accompanied by distichiasis. FOXC2 is a member of the forkhead/winged-helix family of transcription factors and plays essential roles in different developmental pathways and physiological processes. We previously described six unr...
متن کاملAbstract: Correlation Between Lymphedema Disease Severity and Lymphoscintigraphic Findings: A Clinical-Radiological Study
INTRODUCTION: Lymphoscintigraphy is the gold-standard test for diagnosing lymphedema, and is 96% sensitive for detecting the disease. The major abnormal lymphoscintigraphic findings on the test include delayed transit time to the inguinal or axillary lymph nodes (>1 hour) and dermal backflow. A universal protocol for the test does not exist, our protocol obtains images at 1, 2, and 4 hour inter...
متن کاملPhenotypic and genotypic heterogeneity in familial Milroy lymphedema.
Familial Milroy lymphedema (ML) is classified as an autosomal dominant disorder characterized by peripheral edema of the lower extremities at birth or in early childhood. The variety of phenotypes are not well described, and the genomic location and functional expression of the gene or genes underlying this and related familial lymphedema syndromes remain largely unknown. In this collaborative ...
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ژورنال
عنوان ژورنال: Lymphatic Research and Biology
سال: 2019
ISSN: 1539-6851,1557-8585
DOI: 10.1089/lrb.2019.0016