About: Stiff skin syndrome

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Stiff skin syndrome Goto Sponge Distinct Permalink

An Entity of Type : yago:State100024720, within Data Space : dbpedia.org associated with source document(s)
QRcode icon

http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FStiff_skin_syndrome

Stiff 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.

Attributes	Values
rdf:type	Thing Disease yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720
rdfs:label	Stiff-skin-Syndrom (de) Stiff skin syndrome (en)
rdfs:comment	Stiff 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. (en) Das 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. (de)
foaf:name	Stiff skin syndrome (en)
name	Stiff skin syndrome (en)
dcterms:subject	Rare syndromes Mucinoses
Wikipage page ID	25938165 (xsd:integer)
Wikipage revision ID	1086042906 (xsd:integer)
Link from a Wikipage to another Wikipage	FBN1 Vascular Infancy Early childhood Rare syndromes Hypertrichosis Marfanoid–progeroid–lipodystrophy syndrome Acromicric dysplasia Mucinoses Ectopia lentis Immunologic Marfan syndrome Skin Scleroderma Self-healing papular mucinosis MASS phenotype List of cutaneous conditions Weill-Marchesani syndrome Shprintzen-Goldberg syndrome Subcutaneous tissues
sameAs	Stiff skin syndrome Stiff skin syndrome Stiff skin syndrome Stiff skin syndrome Stiff skin syndrome Stiff skin syndrome
SNOMED CT	765187004 (xsd:integer)
dbp:wikiPageUsesTemplate	dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Refimprove dbt:Reflist dbt:Dermatology-stub
ICD	(en) Q82.8 (en)
MeshID	566112.0 (nicaraguanCórdoba)
OMIM	184900 (xsd:integer)
Orphanet	2833 (xsd:integer)
has abstract	Das 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. (de) Stiff 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. (en)
gold:hypernym	Condition
MeSH ID	C566112
prov:wasDerivedFrom	wikipedia-en:Stiff_skin_syndrome?oldid=1086042906&ns=0
page length (characters) of wiki page	2745 (xsd:nonNegativeInteger)
ICD10	Q82.8
OMIM id	184900 (xsd:integer)
ORPHA	2833
foaf:isPrimaryTopicOf	wikipedia-en:Stiff_skin_syndrome
is Link from a Wikipage to another Wikipage of	List of diseases (S) Congenital fascial dystrophy List of OMIM disorder codes Acromicric dysplasia List of skin conditions List of syndromes Stiff-skin syndrome
is Wikipage redirect of	Congenital fascial dystrophy Stiff-skin syndrome
is foaf:primaryTopic of	wikipedia-en:Stiff_skin_syndrome

Faceted Search & Find service v1.17_git139 as of Feb 29 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3330 as of Mar 19 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (378 GB total memory, 53 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software