Distichiasis–lymphoedema: clinical features, venous function and lymphoscintigraphy

JL Rosbotham, GW Brice, AH Child… - British Journal of …, 2000 - academic.oup.com
JL Rosbotham, GW Brice, AH Child, TO Nunan, PS Mortimer, KG Burnand
British Journal of Dermatology, 2000academic.oup.com
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 …
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.
Oxford University Press