Lipoid Proteinosis: A Case Report

Abstract

An 8-year-old Italian boy, born to consanguineous parents, with clinical, histopathologic, and ultrastructural findings of lipoid proteinosis is reported. The main signs of the syndrome-papulonodular, hyperkeratotic and verrucous lesions distributed over the skin of the head and extremities, hoarseness, and dysphagia-were present in the child. The mother had papulonodular lesions on her hands and also complained of slowness in healing.

Late Onset Hyalinosis Cutis et Mucosae

“…Uptake and retention of [ 35 S0 4 ] proteo- glycans were reported to be higher in cultured fibroblasts from the lesion than in normal skin fibroblasts (4). In the present study, as well as in previous studies by ourselves and others (15)(16)(17)(18)(19)(20)(21), inclusion bodies were neither mentioned nor adequately demonstrated in fibroblasts of the lesion, either in vivo or in vitro. Cultured fibroblasts from Case #1 produced many electrondense inclusion bodies; however, control normal fibroblasts in culture also produced the same inclusion bodies.…”

Lipoidoproteinose: relato de dois casos

“…Lipoid proteinosis is a rare disease with autosomal recessive inheritance, approximately 250 cases have been described in the literature, with a higher prevalence in South Africa and Sweden. 5,6 It is characterized by the deposition of an amorphous hyaline material with a glycoproteic constitution in the skin, mucous membranes and internal organs. The etiopathogenesis of the lipoid proteinosis is not still completely clarified, but it seems to be related to an alteration in the synthesis and metabolism of the collagen, leading to an increase in the production of collagen types IV and V by the endothelial cells of the blood vessels, a decrease in the production of collagen types I and II, and an increase in the synthesis of a glycoproteic substance by the fibroblasts.…”

“…A lipoidoproteinose é doença autôssomica recessiva rara, tendo aproximadamente 250 casos descritos na literatura, com maior prevalência na África do Sul e na Suécia. 5,6 Caracteriza-se pela deposição de um material hialino amorfo de constituição glicoprotéica na pele, em mucosas e órgãos internos. A etiopatogênese da lipoidoproteinose não é ainda completamente conhecida, mas parece estar relacionada a uma alteração da síntese e do metabolismo do colágeno, levando a aumento na produção de colágeno tipos IV e V pelas células endoteliais dos vasos sangüíneos, diminuição da produção de colágeno tipos I e II, e aumento na síntese de uma substância glicoprotéica pelos fibroblastos.…”

“…1,4,5 The objective of the present work was to describe two cases of this rare entity, which has been infrequently reported, with approximately 250 cases found in the medical literature. 5,6 Figura 1: Lesões verrucosas coalescentes nos cotovelos…”

A 17-year-old adolescent with acneiform skin changes

“…Thickening and wart-like lesions appeared symmetrically on the dorsal surfaces of the knees and elbows and the lower back. Lipoid proteinosis, also known as Urbach-Wiethe disease or Hyalinosis Cutis et Mucosae, is a rare autosomal recessive disease characterized by the deposition of amorphous material in the connective tissue of the skin, oral cavity and other tissues [2,3,5,8]. Patients with lipoid proteinosis have diuse waxy papulo-nodular deposits in the mucosae and skin, prominently in the face and areas of trauma and movement, in particular, the knees, elbows, hands and feet.…”