Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5715672 | Annales de Pathologie | 2017 | 4 Pages |
Abstract
The lipoid proteinosis is a rare autosomic recessive genodermatosis characterized histologically by deposits of hyaline-like eosinophilic material of characteristic distribution. We herein report the case of a 56-year-old man admitted for progressive aggravated dementia associated with a late-onset dysphonia. Histologic examination of cutaneous and laryngeal biopsies showed deposits of an amorphous and eosinophilic material arranged around vessels, and adnexal structures, stained by PAS and congo red negative. The detection of a mutation in the ECM1 gene confirmed the diagnosis of lipoid proteinosis of atypical clinical presentation.
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Authors
Xavier Grimaux, Rida El Ayoubi, Magalie Rabin, Ludovic Martin, Dominique Bonneau, Frédérique Bouyx, Emmanuelle Blanchard, Anne Croue, Quentin Breton,