Very rare congenital disorder presenting with double row of eyelashes, lymphatic drainage dysfunction
and sometimes cardiac and spinal anomalies.
In 1964, H.F. Falls and E.D. Kertesz described this
hereditary disorder of lymphatic drainage combined with ocular and systemic
complications, including spinal arachnoid cysts and congenital heart
Autosomal dominant with incomplete penetrance
and variable expression caused by mutations in the FOXC2 gene on chromosome
Features are late-onset lymphedema (end of first
decade of life) mainly involving the lower limbs and distichiasis (a
double row of eyelashes). Lymphography shows abundant and dilated lymphatics in
both legs and an absent or deformed thoracic duct.
Lymphedema is present from the knees downward and
scrotal swelling may be considerable in males. Lymphedema usually presents
during the second half of the first decade of life. One side may be affected
many years before the other. Irritation of the cornea caused by the eyelashes, with
corneal ulceration and scarring in some cases, brings the patient to the
attention of an ophthalmologist. This form of lymphedema is associated with
other congenital malformations, including (a) congenital heart disease
(tetralogy of Fallot, patent ductus arteriosus, ventricular septal defect,
atrial septal defect, coarctation of aorta, and pulmonary stenosis) and
development of dilated cardiomyopathy; (b) spinal arachnoid cysts (in some
patients, neurologic signs may be present); and (c) diverse anomalies of the
vertebral column. The course and prognosis depend upon the extent and
severity of the edema and the development of spinal column complications.
Symptomatic management (compression, elevation, diuretics) of the edema is
common. Removal of the lid hair to prevent ocular complications is done.
Complete history and physical
examination with special attention to the cardiac and spinal systems must be
obtained. Investigations should be directed by history and clinical
examination and may include hematocrit, ECG, chest radiography,
echocardiography, and radionuclide imaging when necessary. Assess and
document any neurologic deficits. Investigations include serum potassium (to
exclude diuretic-induced hypokalemia), serum protein and albumin levels, and
arterial blood gas analysis. Antibiotics for active infection of the
edematous areas are to be continued, but suitable antibiotic prophylaxis for
cardiac lesions should also be used. Use of sedative premedication should be
assessed on an individual basis. Dehydration should be prevented at all
times in patients who are polycythemic (hematocrit >45%).
Venous cannulation is difficult in the
affected areas. Careful positioning of the affected limbs is required to
prevent pressure sores and trauma. Stockings and pneumatic devices can be useful to reduce
further dependency-related edema during long operations.
Antithromboembolic prophylaxis should be considered. Induction and
maintenance of anesthesia in patients with cardiac lesions is dictated by
the underlying pathophysiology. Elective admission to the intensive care
unit should be provided for all patients undergoing major surgical
procedures and for those with advanced cardiac disease. Eye ointment and
padding should be provided in patients with ophthalmic lesions.