Is it always blepharitis? Urbach–Wiethe syndrome (lipoid proteinosis)

Abstract

A 12-year-old girl presented with recurrent crusty debris and dandruff at the base of both eyelashes despite having completed different medical treatments. She had had a hoarse voice since her early childhood. Upon anterior segment examination of the eyes, we found yellow-white, bead-like papules on the margins of the eyelids. An otolaryngologist detected multiple nodules on the vocal cords and buccal mucosa. Ultrasonography revealed salivary stones in the main parotid ducts. And a dermatological examination revealed thickened skin lesions on the elbows and knees with a biopsy showing histopathological findings of lipoid proteinosis. We diagnosed the patients as having Urbach-Wiethe syndrome or lipoid proteinosis, a rare autosomal recessive multisystem disorder with variable manifestations vary that difficult the diagnosis. The ocular manifestations are not well known among ophthalmologists, but the typical lid lesions are pathognomonic and ophthalmologists should be aware of this presentation to identify patients with Urbach-Wiethe syndrome.

Lipoid proteinosis

“…The most common and pathognomonic ocular finding of LP is linearly sequenced pearly papules on the eyelid called moniliform blepharosis. 9,44 (Fig. 8) In addition to its diagnostic value, moniliform blepharosis may accompany the infiltration of the Zeiss, Moll and Meibomian glands, and consequently cause madarosis, trichiasis and sometimes distichiasis.…”

“…44 Another common finding is macular focal degeneration and drusen formation in the Bruch's membrane in approximately 30-50% of patients. 9,45 Uncommon ocular symptoms of LP include cataract, lens dislocation, corneal ulceration, corneal opacities, keratoconus, uveitis, glaucoma, impaired color vision, light hypersensitivity, retinitis pigmentosa, epiphora, dry eye, nasolacrimal duct obstruction, iris and pupillary disorders and temporary blindness. 9,44-47…”

“…Almost any organ can be affected. [7][8][9][10][11] The affected individuals have a normal survey unless laryngeal obstruction develops. There is no precise and effective treatment of the disease.…”