Lymphedema-distichiasis syndrome is a rare genetic multisystem disorder characterized by swelling of the legs because of fluid accumulation and the development of extra eyelashes (distichiasis). Distichiasis may range from a few extra lashes to a full set of extra eyelashes. Swelling most often affects both legs (bilateral) and usually occurs around puberty. Additional anomalies sometimes associated with this disorder include early onset varicose veins, droopy eyelids (ptosis), cardiac (heart) defects, cleft palate, abnormal heart rhythm, and abnormal curvature of the spine (scoliosis). Lymphedema-distichiasis syndrome is caused by mutations of the FOXC2 gene and is inherited as an autosomal dominant trait.
Source: NORD National Organization for Rare Disorders
All people with lymphedema-distichiasis syndrome have extra eyelashes present at birth. The age of onset of lymphedema varies, but it most often begins during puberty. Males usually develop lymphedema earlier than females, but all affected individuals will develop lymphedema by the time they are in their forties.
Source: NIH U.S. National Library of Medicine Genetics Home Reference
Diagnosis/testing.
The diagnosis of lymphedema-distichiasis syndrome is made clinically based on the presence of primary lymphedema and distichiasis. FOXC2 is the only gene in which pathogenic variants are known to cause lymphedema-distichiasis syndrome.
Management.
Treatment of manifestations: Lubrication, plucking, cryotherapy, electrolysis, or lid splitting for treatment of distichiasis; fitted stockings and bandages to improve swelling and discomfort associated with edema.
Prevention of primary manifestations: The implementation of hosiery prior to the development of lymphedema may be beneficial in reducing the extent of edema.
Prevention of secondary complications: To prevent secondary cellulitis treat athlete’s foot and other infections promptly; treat early cellulitis with antibiotics.
Other: Diuretics are not effective in the treatment of lymphedema.
Source: National Center for Biotechnology Information, U.S. National Library of Medicine GeneReviews®
