IngentaConnect Distichiasislymphoedema: clinical features, venous function and l...

Authors: Rosbotham, J.L.¹; Brice, G.W.²; Child, A.H.²; Nunan, T.O.³; Mortimer, P.S.¹; Burnand, K.G.⁴

Source: British Journal of Dermatology, Volume 142, Number 1, January 2000 , pp. 148-152(5)

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.

Keywords: distichiasis-lymphoedema; lymphoscintigraph

Document Type: Research article

DOI: 10.1046/j.1365-2133.2000.03258.x

Affiliations: 1: Departments of Dermatology and 2: Cardiological Sciences, St George's Hospital, Blackshaw Road, London SW17, U.K. 3: Departments of Nuclear Medicine and 4: Academic Surgery, St Thomas' Hospital, London SE1, U.K.

The full text electronic article is available for purchase. You will be able to download the full text electronic article after payment.

$50.16 plus tax Refund Policy

Distichiasis-lymphoedema: clinical features, venous function and lymphoscintigraphy