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Distichiasis–lymphoedema: clinical features, venous function and lymphoscintigraphy
Author(s) -
Rosbotham J.L.,
Brice G.W.,
Child A.H.,
Nunan T.O.,
Mortimer P.S.,
Burnand K.G.
Publication year - 2000
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.2000.03258.x
Subject(s) - penetrance , meibomian gland , phenotype , medicine , inheritance (genetic algorithm) , lymphedema , pathology , dermatology , biology , genetics , surgery , cancer , eyelid , gene , breast cancer
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.