Lipoid Proteinosis: Report of Four Siblings and Brief Review of the Literature

Abstract

Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated with deposition of periodic acid-Schiff (PAS)-positive hyaline material in various tissues including skin, mucous membranes, and internal organs. A family is reported in which four siblings (two boys and two girls) born to nonconsanguineous parents had lipoid proteinosis. All had the characteristic hoarseness of voice and three had skin lesions. The diagnosis was confirmed by the presence of typical features on light and electron microscopy.

Clinical and histopathological response to acitretin therapy in lipoid proteinosis

“…Extracutaneous features of LP such as epilepsy and neuropsychiatric abnormalities may be associated with skin findings. Cranial CT may show characteristic bean-shaped intracranial calcifications in the temporal lobe, and changes are often seen after the age of 10 years (4,8). One of the patients in our report, at the age of 8 years, had behavioral disturbances, hyperactivity and epilepsy; however, no calcifications were detected in radiological examinations.…”

Lipoid proteinosis of Urbach and Weithe: case report and a brief review of the literature

“…It may be accompanied by swelling of the tongue and lips, with associated difficulty in swallowing. The tongue typically becomes woody-hard and involvement of the frenulum prevents the patient from protruding his tongue out [7]. Our patient was unusual in not having laryngeal involvement; however, he was advised to have regular reviews to detect the same, considering the fact that laryngeal infiltration has been reported to cause respiratory distress.…”

“…The disease is sometimes mistaken for epidermolysis bullosa but true bullae are almost never seen. Neurological manifestations include long-standing memory impairment, mental retardation paranoia, rage attacks, temporal lobe epilepsy and asymptomatic calcification of the amygdala and temporal lobes [5,7]. This is an important feature that aided the diagnosis in our patient.…”

“…There may be accompanying loss of lashes. Other ocular features, including corneal opacities, glaucoma (due to infiltration of the trabeculum), conjunctival nodules and drusen may be present [3,4,7,8].…”

Lipoid proteinosis in the eastern Mediterranean region of Turkey

“…Generalized visceral involvement has also been reported. [2,3] LP has no effective treatment so far.…”