To cite: Marques NS, Miranda A, Barros S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-213651 DESCRIPTION A 29-year-old woman with a history of renal cysts, hypertension and lymphoedema-distichiasis syndrome, was referred to ophthalmology, with bilateral blurred vision, hyperaemia and ocular pain, developed over months. The patient had no positive ...

The palmoplantar keratodermas are a heterogenous group of hereditary disorders of keratinization. They are characterized by epidermal thickening and a yellow waxy appearance of the palms and soles. Genetic studies have linked various forms of palmoplantar keratoderma to markers on chromosomes one, twelve, and seventeen, and several genes have been identified. Primary lymphedema is occasionally ...

BACKGROUND Primary lymphoedema is a rare genetic disorder characterized by swelling of different parts of the body and highly heterogenic clinical presentation. Mutations in several causative genes characterize specific forms of the disease. FOXC2 mutations are associated with lymphoedema of lower extremities, usually distichiasis and late onset. PATIENTS AND METHODS Subjects from three gener...

OBJECTIVE To propose a new surgical technique as an alternative method for the correction of segmental trichiasis and distichiasis. MATERIAL AND METHOD An interventional case series reviewed the segmental trichiasis and distichiasis patients who were treated with folliculectomy in the Ophthalmology Department, King Chulalongkorn Memorial Hospital. The data was collected from January 1997 to D...

PURPOSE To describe the methods and results of a new technique of eyelash trephination for treatment of trichiasis and distichiasis. METHODS The medical records of all patients who underwent eyelash trephination by the authors to treat trichiasis or distichiasis were reviewed. Gender, diagnosis, number of eyelids treated, follow-up time, and surgical outcome were recorded. The technique invol...

Various surgical techniques have been proposed for treating distichiasis in dogs. A technique involving eyelid splitting and double freeze-thaw cryotherapy with anterior lamellar recession was evaluated. A 3 year old, female, Staffordshire bull terrier was referred for bilateral distichiasis. There were bilateral multiple distichiasis of the upper lids, more severe on the right lid with double ...

Mutation of the transcription factor FOXC2 gene has been identified as the cause of lymphedema-distichiasis syndrome (LD). Subjects with LD usually present with lower extremity lymphedema and distichiasis--an additional row of eyelashes. Typically, lymphscintigrams of patients with LD show good transport of the radiotracer from the feet to the inguinal lymph nodes accompanied by reflux of trace...

Le distichiasis est une anomalie congénitale rare à transmission autosomique dominante dans laquelle il existe une deuxième rangée anormale de cils, localisée au niveau des glandes de Meibomius. Cette seconde rangée de cils est très souvent en contact avec le globe oculaire entrainant des complications cornéennes. Le gène en cause FOXC2 (Forkhead Box C2) localisé en position 16q24.3, participe ...