Lipoid proteinosis: case report and review of the literature.

Full Abstract

Lipoid proteinosis is a rare autosomal recessive disorder, characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Classical clinical features include skin scarring, beaded eyelid papules, and laryngeal infiltration leading to hoarseness. Moreover, the infiltrates in the tongue and its frenulum limit lingual movements and cause speech difficulties. Usually, the hoarse voice is present at birth or in early infancy, as the first manifestation. In more severe cases, diffuse infiltration of the pharynx and larynx might cause respiratory distress, at times requiring tracheostomy. The disorder has recently been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene on chromosome 1q21. The function of the protein extracellular matrix protein 1 gene is still unclear, although an important role in skin physiology and homeostasis has been hypothesized. In this report, the case is described of a 6-year-old girl with lipoid proteinosis. Histopathological examination of a laryngeal biopsy specimen showed massive deposits of eosinophilic, periodic acid Schiff-positive, and diastase resistant material in the lamina propria corroborating the clinical diagnosis of lipoid proteinosis. Molecular analyses in this patient also confirmed the clinical diagnosis. The proposita was a compound heterozygote for a new small rearrangement (543de1TG/ins15) in exon 6, and a nonsense mutation (Arg243Stop) in exon 7. Together with previously documented mutations in the extracellular matrix protein 1 gene, this study supports the hypothesis that exons 6 and 7 are the most common sites for extracellular matrix protein 1 gene mutations in lipoid proteinosis.

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Author information

Author/s: Di Giandomenico, S (S); Masi, R (R); Cassandrini, D (D); El-Hachem, M (M); De Vito, R (R); Bruno, C (C); Santorelli, F M (FM);

Affiliation: Unit of Molecular Medicine, IRCCS-Bambino Gesù Hospital, Rome, Italy.

Journal and publication information

Publication Type: Case Reports; Journal Article; Review

Journal: Acta otorhinolaryngologica Italica : organo ufficiale della Società italiana di otorinolaringologia e chirurgia cervico-facciale (Acta Otorhinolaryngol Ital), published in Italy. (Language: eng)

Reference: 2006-Jun; vol 26 (issue 3) : pp 162-7

Dates: Created 2006/10/26; Completed 2006/12/12;

PMID: 17063986, status: MEDLINE (last retrieval date: 12/26/2008)

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Child
Chromosomes, Human, Pair 1
Extracellular Matrix Proteins - genetics
Female

Female
Humans
Lipoid Proteinosis of Urbach and Wiethe - genetics; pathology
Point Mutation

Associated Chemicals: ECM1 protein, human (0) ; Extracellular Matrix Proteins (0)

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