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 age, she presented with exacerbation of the original clinical findings, which then involved the upper lip, buccal mucosa, tongue and lingual frenulum. In addition, dermatological lesions were noted on the child's limbs and face, as well as a hoarse voice. Histopathological examination of the buccal mucosa revealed dense connective tissue with hyaline foci, which were positive with periodic acid-Schiff (PAS) staining and resistant to diastase digestion. Clinical and histopathological findings led to the diagnosis of a rare genetic disease with fewer than 300 reported cases - lipoid proteinosis. Magnetic resonance imaging revealed calcium deposits in her amygdaloid region of the brain, and nasopharyngolaryngoscopy revealed lesions in her vocal cords. The patient currently is stable and under multidisciplinary follow-up, but no treatment has been recommended to date.
Highlights
Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis with approximately 300 reported cases
LP is caused by mutation in the extracellular matrix gene 1 (ECM1), which acts on extracellular matrix formation, cell adhesion, signaling, and regulation of angiogenesis, as well as on tissue differentiation and maturation [4]
This is a clinical case report of LP in a 9-year-old Brazilian child. This rare disease mainly affects white individuals of South African descent, since mutation of the ECM1 gene is reported to have occurred in South Africa in the mid-seventeenth century [3]
Summary
Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis with approximately 300 reported cases. The first clinical manifestations may be congenital or occur in early childhood This disease, first described by Erich Urbach and Camilo Wiethe in 1929, is characterized by the deposition of amorphous hyaline material within the skin, mucous membranes and viscera [1]. LP is characterized by dense connective tissue with the presence of amorphous and extracellular eosinophilic hyaline material due to the deposition of non-collagenous proteins and glycoproteins. These deposits are positive with periodic acid-Schiff staining and resistant to diastase digestion. The objective of this study is to report the diagnosis of this rare childhood disorder, highlighting the clinical findings and their evolution
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