Primary diagnosis of hyalinosis cutis et mucosae in a 56-year-old man with persistent hoarseness and dysphonia

ejd.2013.1966 Auteur(s) : Sabrina C. Lang1 Lang_S@klinik.uni-wuerzburg.de, Sophie Glas2, Matthias Scheich2, Henning Hamm1, Andreas Kerstan1, Eva-B Brocker1 1 Department of Dermatology, Venereology and Allergology 2 Department of Otorhinolaryngology, University Hospital of Wurzburg Josef-Schneider-Str. 2 D - 97080 Wurzburg Hyalinosis cutis et mucosae (lipoid proteinosis) is a rare autosomal recessive disorder caused by loss-of-function mutations in the extracellular matrix protein 1 gene (ECM1) [...]