Lipoid proteinosis: A rare entity

Abstract

Urbach–Wiethe syndrome or lipoid proteinosis is a rare autosomal recessive disorder characterized histologically by infiltration of Periodic acid Schiff-positive hyaline material in the skin, upper aerodigestive tract, eyelids, and internal organs. Classical clinical features include scarring of the skin, beaded eyelid papules (moniliform blepharosis) and laryngeal infiltration leading to hoarseness of voice. Lipoid proteinosis can lead to life-threatening conditions such as acute respiratory distress and seizures. Awareness among ophthalmologists about this rare entity is crucial for appropriate management of these patients.

Urbach-weithe disease (lipoid protinosis): a case report

“…Other extracutaneous features as ocular manifestations may include dry eyes, open angle glaucoma, drusen in the macula, retinitis pigmentosa, uveitis and subluxation of the lens has been reported along with lipoid proteinosis, which were not founded in our case [8].…”

“…Постраждалого з пошкодженням тазової ділян-ки при політравмі (ISS≥17 балів) необхідно розглядати як такого, який потенційно має приховану катастро-фічну травму внутрішніх органів, магістральних су-дин і тому йому в найближчий час необхідно прове-сти мультидисциплінарне обстеження [8,9].…”

Lipoid Proteinosis Masquerading as Seborrheic Dermatitis

“…The lesion's moniliform blepharosis, a pathognomonic feature of LP, can cause irritation or itching of the eyes, but the vision is not hampered in most cases [3]. An ophthalmologist should know to differentiate between moniliform blepharosis and other eyelid disorders due to deposition as their management and underlying systemic condition are quite varied [7][8] (Table 1).…”

“…Respiratory insufficiency and upper respiratory tract infections are the sequelae of involvement of the upper aerodigestive tract. Ophthalmological manifestations are pathognomonic of LP, and these are characteristically beaded papules along upper and lower eyelids over the lash line also known as moniliform blepharosis [3]. Skin depositions cause the skin to become thickened and yellowish.…”

Anaesthetic considerations in a child with Urbach Wiethe disease posted for removal of cheek swelling

“…[ 1 2 ] The deposition of hyaline material in the mucosa of the arteriolar capillary wall and epithelial basement membrane causes thickening of the skin mucosa. [ 3 ] This predisposes the patient to widespread scarring, even with minor trauma especially over the extensor surfaces of the extremities. Very little is known about the anaesthetic considerations in a patient with this disorder.…”