Abstract Lipoid proteinosis is a rare autosomal recessive disease, characterized by hyaline deposits of PAS-positive material in tissues due to mutations in the ECM1 gene. This study evaluated the ultrastructure of the skin of a 6-year-old child affected by this condition. The light microscopy identified...
Abstract This report describes the diagnostic process of a rare disorder in a Brazilian female child. The patient presented initially as a 7-year-old with multiple whitish submucosal nodules of a fibrous consistency in the lower lip, but with an inconclusive pathology report. When she turned 9 years of a...
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 papule...
Os autores apresentam um caso de doença de Urbach-Wiethe (hialinose cutaneomucosa, proteinose lipóide) em mulher de 36 anos, com baixa estatura, voz fina e rouca desde a infância, face envelhecida, pele espessada, com lesões papulares e verrucosas, e bordas palpebrais apresentando aspecto clássico d...
Os autores apresentam um caso de lipoidoproteinose (síndrome de Urbach-Wiethe) em um homem de 37 anos, de procedência rural. O diagnóstico foi estabelecido morfologicamente e por exame anatomopatológico. Certos aspectos histológicos säo comentados. A lipoidoproteinose é uma doença rara, autossôm...
