title: [Hyalinosis cutis et mucosae and Ehlers-Danlos syndrome. A rare combination of syndromes].
abstract: We report on a 7-year-old boy suffering from two rare genetic diseases, namely hyalinosis cutis et mucosae and Ehlers-Danlos syndrome. The diagnosis was finally established after 7 years, by means of light and electron microscopy and immunohistology. Therefore, this report deals with the typical clinical and morphological features of both genetic disorders.
authors.affiliation: Hautklinik der Ruprecht-Karls-Universität, Abteilung Dermatologie I mit Poliklinik, Heidelberg.
authors.forename: I
authors.initials: I
authors.lastname: König
authors.forename: I
authors.initials: I
authors.lastname: Hausser
authors.forename: I
authors.initials: I
authors.lastname: Anton-Lamprecht
authors.forename: R
authors.initials: R
authors.lastname: Schröter
authors.forename: D
authors.initials: D
authors.lastname: Petzoldt
mesh_terms: D001485:Basement Membrane / Q000473:pathology; D001706:Biopsy; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003094:Collagen / Q000648:ultrastructure; D003238:Connective Tissue / Q000473:pathology; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D004730:Endothelium, Vascular / Q000473:pathology; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D006818:Hyalin / Q000648:ultrastructure*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009061:Mouth Mucosa / Q000473:pathology; D012867:Skin / Q000473:pathology
chemical_list: D003094:Collagen