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Distichiasis-lymphoedema: clinical features, venous function and lymphoscintigraphy.
J L Rosbotham1, G W Brice, A H Child
1Departments of Dermatology and *Cardiological Sciences, St George's Hospital, Blackshaw Road, London SW17, UK.
The British Journal of Dermatology
|January 29, 2000
Summary
Distichiasis-lymphoedema, a rare genetic condition, involves abnormal eyelash growth and swelling. This study clarifies its dominant inheritance pattern with incomplete penetrance in a large family.
Area of Science:
- Genetics
- Medical Science
Background:
- Distichiasis-lymphoedema is a rare, genetically determined lymphoedema.
- Distichiasis involves abnormal meibomian gland development, leading to aberrant eyelash growth.
Observation:
- Phenotype data were collected from a large family with distichiasis-lymphoedema.
- Lymphoscintigraphy and light reflection rheography were used for clearer phenotypic identification.
- Associated congenital and venous abnormalities were frequently observed in affected limbs.
Findings:
- Lymphoscintigraphy reclassified several subjects, impacting genetic linkage studies.
- A dominant inheritance pattern with incomplete penetrance was confirmed for distichiasis-lymphoedema.
Implications:
- Understanding this subgroup offers insights into the genetic inheritance of all lymphoedema types.
- Accurate phenotypic classification is crucial for genetic studies in hereditary lymphoedema.