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Hyalinosis cutis et mucosae and Ehlers-Danlos syndrome: a rare combination of syndromes

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 cli...

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Hauptverfasser: König, Insa (VerfasserIn) , Haußer-Siller, Ingrid (VerfasserIn) , Anton-Lamprecht, Ingrun (VerfasserIn) , Schroeter, Renate (VerfasserIn) , Petzoldt, Detlef (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 1994
In: Der Hautarzt
Year: 1994, Jahrgang: 45, Heft: 2, Pages: 108-112
ISSN:1432-1173
DOI:10.1007/s001050050049
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s001050050049
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Verfasserangaben:Insa König, Ingrid Haußer, Ingrun Anton-Lamprecht, Renate Schröter, Detlef Petzoldt

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520 |a 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. 
650 4 |a Key words: Hyalinosis cutis et mucosae (lipoid proteinosis, Urbach-Wiethe disease) - Collagen type IV - Multiplied basal laminae - Ehlers-Danlos syndrome - Ultrastructural changes in collagen fibrils - Combination of syndromes 
650 4 |a Schlüsselwörter: Hyalinosis cutis et mucosae (Morbus Urbach-Wiethe) - Kollagen Typ IV - Multiplizierte Basallaminae - Ehlers-Danlos-Syndrom - Ultrastrukturelle Veränderungen der Kollagenfibrillen - Syndromkombination 
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