Distichiasis-lymphoedema: clinical features, venous function and lymphoscintigraphy
- PMID: 10651712
- DOI: 10.1046/j.1365-2133.2000.03258.x
Distichiasis-lymphoedema: clinical features, venous function and lymphoscintigraphy
Abstract
Distichiasis-lymphoedema is a rare variant of the genetically determined lymphoedemas; distichiasis is the abnormal development of the meibomian glands causing aberrant growth of eyelashes. However, a better understanding of this clinically distinct subgroup may provide useful information on the genetic inheritance of all types of lymphoedema. This report provides phenotype data on a very large family with distichiasis-lymphoedema. Lymphoscintigraphy and light reflection rheography (venous function) were undertaken to identify the phenotype more clearly. As a result of lymphoscintigraphy several subjects were reclassified phenotypically (unaffected or affected) with implications for genetic linkage studies. Associated congenital abnormalities were found and venous abnormalities were almost always present in affected limbs. A dominant inheritance with incomplete penetrance was confirmed.
Similar articles
-
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.Hum Genet. 2001 Jun;108(6):546-51. doi: 10.1007/s004390100528. Hum Genet. 2001. PMID: 11499682
-
Syndrome of lymphoedema and distichiasis.Hum Genet. 1980;53(3):309-10. doi: 10.1007/BF00287047. Hum Genet. 1980. PMID: 7372334
-
Reduction of the genetic interval for lyphoedema-distichiasis to below 2 Mb.J Med Genet. 2000 Sep;37(9):725. doi: 10.1136/jmg.37.9.725. J Med Genet. 2000. PMID: 11182939 Free PMC article. No abstract available.
-
Phenotypic characterization of primary lymphedema.Ann N Y Acad Sci. 2008;1131:140-6. doi: 10.1196/annals.1413.013. Ann N Y Acad Sci. 2008. PMID: 18519967 Review.
-
Literature watch. FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome.Lymphat Res Biol. 2003;1(3):245-9. doi: 10.1089/153968503768330274. Lymphat Res Biol. 2003. PMID: 15624441 Review. No abstract available.
Cited by
-
Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs.J Med Genet. 2005 Mar;42(3):235-9. doi: 10.1136/jmg.2004.024075. J Med Genet. 2005. PMID: 15744037 Free PMC article.
-
Mutations in EPHB4 cause human venous valve aplasia.JCI Insight. 2021 Sep 22;6(18):e140952. doi: 10.1172/jci.insight.140952. JCI Insight. 2021. PMID: 34403370 Free PMC article.
-
Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations.Genes (Basel). 2021 Apr 27;12(5):650. doi: 10.3390/genes12050650. Genes (Basel). 2021. PMID: 33925370 Free PMC article.
-
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.J Med Genet. 2002 Jul;39(7):478-83. doi: 10.1136/jmg.39.7.478. J Med Genet. 2002. PMID: 12114478 Free PMC article.
-
Human venous valve disease caused by mutations in FOXC2 and GJC2.J Exp Med. 2017 Aug 7;214(8):2437-2452. doi: 10.1084/jem.20160875. J Exp Med. 2017. PMID: 28724617 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
Research Materials
