[Hyalinosis cutis et mucosae and Ehlers-Danlos syndrome. A rare combination of syndromes]

I König; I Hausser; I Anton-Lamprecht; R Schröter; D Petzoldt

doi:10.1007/s001050050049

[Hyalinosis cutis et mucosae and Ehlers-Danlos syndrome. A rare combination of syndromes]

Hautarzt. 1994 Feb;45(2):108-12. doi: 10.1007/s001050050049.

[Article in German]

Authors

I König¹, I Hausser, I Anton-Lamprecht, R Schröter, D Petzoldt

Affiliation

¹ Hautklinik der Ruprecht-Karls-Universität, Abteilung Dermatologie I mit Poliklinik, Heidelberg.

PMID: 7512082
DOI: 10.1007/s001050050049

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.

Publication types

Case Reports
English Abstract

MeSH terms

Basement Membrane / pathology
Biopsy
Child
Chromosome Aberrations / genetics*
Chromosome Disorders
Collagen / ultrastructure
Connective Tissue / pathology
Ehlers-Danlos Syndrome / diagnosis
Ehlers-Danlos Syndrome / genetics*
Ehlers-Danlos Syndrome / pathology
Endothelium, Vascular / pathology
Genes, Recessive / genetics*
Humans
Hyalin / ultrastructure*
Lipoid Proteinosis of Urbach and Wiethe / diagnosis
Lipoid Proteinosis of Urbach and Wiethe / genetics*
Lipoid Proteinosis of Urbach and Wiethe / pathology
Male
Microscopy, Electron
Mouth Mucosa / pathology
Skin / pathology

Substances

Collagen