Lymphoedema - distichiasis is characterised by primary limb lymphoedema usually starting at puberty (but in some cases later or at birth) and associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Prevalence is unknown. Lymphoedema starts earlier in males. Other associated manifestations can include: heart abnormalities, cleft palate, varicose veins and extradural cysts. Photophobia, ptosis, congenital ectropion and congenital cataracts can be present. Distichiasis can be asymptomatic, but it can also lead to corneal abrasion or ulceration. This syndrome is transmitted following an autosomal dominant pattern, with variable penetrance. The causative gene is FOXC2 (previously referred to as MFH1, in 16q24.3), coding for transcription factor FOXC2. In most cases, distichiasis does not require any particular treatment. Management first includes a treatment phase (2 to 3 weeks) with daily multi-layer minimally elastic bandages, potentially combined with manual lymphatic drainage, in order to reduce the size of the oedema. This phase is followed by a maintenance phase, during which elastic compression garments (socks, stockings) need to be worn during the day-time to maintain reduced volume. Night-time bandages may continue to be worn during this phase, though less frequently than during the reduction stage. Skin care is necessary to prevent infections.
Last update: November 2007