Lymphedema distichiasis syndrome in a young female patient
Author: Maja Bakula
Base Hospital / Institution: University Hospital Center Zagreb, Croatia
ePoster presentation
Abstract ID: 25-365
Purpose
To present a case of a female patient with lymphedema distichiasis syndrome and a literature review of clinical presentation and systemic implications.
Methods
A chart review and a literature review.
Results
A young female patient who had undergone surgery for congenital ptosis in childhood was referred to our clinic for the treatment of recurrent eyelid swelling, redness and painful gritty sensation in both eyes.
Eyelid edema and distichiasis were found causing irritation of the bulbar conjunctiva and cornea. She was treated with electroepilation. Systemic workup was done due to lymphedema of the lower extremities. Missense mutation in the FOXC2 gene was found.
Conclusion
Lymphedema distichiasis is a very rare congenital syndrome with a different time frame for the clinical presentation of components comprising the syndrome. Congenital ptosis occurs in ~ 30% of cases. As it is associated with lymphatic vasculature and systemic anomalies, multidisciplinary evaluation and genetic counseling is advisable.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| Ivana | Gabrić | University Hospital Center Zagreb |
| Ivo | Planinc | University Hospital Center Zagreb |
| Jelena | Juri Mandić | University Hospital Center Zagreb, Medical School, University of Zagreb |
