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http://dbpedia.org/ontology/abstract Das Stiff-skin-Syndrom, englisch „steife HDas Stiff-skin-Syndrom, englisch „steife Haut“, ist eine sehr seltene angeborene Erkrankung mit einer Versteifung aufgrund einer Verhärtung der Haut, insbesondere über den Gelenken. Synonyme sind: Kongenitale Pseudosklerodermie; englisch congenital fascial dystrophy; Easterly-McKusick syndrome; Stiff-man-Syndrom (Vgl. Hinweis auf gleichnamige andere Erkrankung Stiff-man-Syndrom weiter unten) Die Erstbeschreibung stammt aus dem Jahre 1968 durch den Wiener Kinderarzt E. Pichler, die Namensbezeichnung bezieht sich auf die Autoren eines Berichtes von 1971 durch Nancy B. Esterly und Victor Almon McKusick. Das Syndrom ist nicht zu verwechseln mit dem Stiff-man-Syndrom, einer seltenen neurologischen Erkrankung. einer seltenen neurologischen Erkrankung. , Stiff skin syndrome (also known as "CongenStiff skin syndrome (also known as "Congenital fascial dystrophy") is a cutaneous condition characterized by ‘rock hard’ induration, thickening of the skin and subcutaneous tissues, limited joint mobility, and mild hypertrichosis in infancy or early childhood. Immunologic abnormalities or vascular hyperactivity are not present in patients. Not much is known about it, cause or treatment, and further investigation is required, as it has only been reported 41 times throughout history.been reported 41 times throughout history.
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rdfs:comment Das Stiff-skin-Syndrom, englisch „steife HDas Stiff-skin-Syndrom, englisch „steife Haut“, ist eine sehr seltene angeborene Erkrankung mit einer Versteifung aufgrund einer Verhärtung der Haut, insbesondere über den Gelenken. Synonyme sind: Kongenitale Pseudosklerodermie; englisch congenital fascial dystrophy; Easterly-McKusick syndrome; Stiff-man-Syndrom (Vgl. Hinweis auf gleichnamige andere Erkrankung Stiff-man-Syndrom weiter unten) Das Syndrom ist nicht zu verwechseln mit dem Stiff-man-Syndrom, einer seltenen neurologischen Erkrankung. einer seltenen neurologischen Erkrankung. , Stiff skin syndrome (also known as "CongenStiff skin syndrome (also known as "Congenital fascial dystrophy") is a cutaneous condition characterized by ‘rock hard’ induration, thickening of the skin and subcutaneous tissues, limited joint mobility, and mild hypertrichosis in infancy or early childhood. Immunologic abnormalities or vascular hyperactivity are not present in patients. Not much is known about it, cause or treatment, and further investigation is required, as it has only been reported 41 times throughout history.been reported 41 times throughout history.
rdfs:label Stiff-skin-Syndrom , Stiff skin syndrome
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