About: Stiff skin syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:Illness114061805, 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.

AttributesValues
rdf:type
rdfs:label
  • Stiff-skin-Syndrom
  • Stiff skin syndrome
rdfs:comment
  • 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.
  • 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.
foaf:name
  • Stiff skin syndrome
name
  • Stiff skin syndrome
foaf:isPrimaryTopicOf
dct:subject
Wikipage page ID
Wikipage revision ID
Link from a Wikipage to another Wikipage
sameAs
dbp:wikiPageUsesTemplate
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.
  • 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, as it has only been reported 41 times throughout history. Not much is known about this, and further investigation is required. According to news reports on one particular patient by name of Jaiden Rogers, the patient's skin hardens in some places, and it slowly spreads over the surrounding area. For Rogers, it's spreading over the back, legs, and hips, inhibiting his ability to walk. He says it hurts, but finds it difficult to describe the sensations further. Currently, it appears that chemotherapy similar to that used for cancer is slowing the spread, but it also appears that once the skin has hardened it cannot revert to its healthy flexible state. Physical therapy also appears to help.
MeSH ID
  • C566112
ICD
  • Q82.8
MeshID
  • 566112.0
OMIM
Orphanet
ICD10
  • Q82.8
OMIM id
ORPHA
  • 2833
SNOMED CT
prov:wasDerivedFrom
page length (characters) of wiki page
is foaf:primaryTopic of
is Link from a Wikipage to another Wikipage of
is Wikipage redirect of
Faceted Search & Find service v1.17_git51 as of Sep 16 2020


Alternative Linked Data Documents: PivotViewer | iSPARQL | ODE     Content Formats:       RDF       ODATA       Microdata      About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 08.03.3319 as of Dec 29 2020, on Linux (x86_64-centos_6-linux-glibc2.12), Single-Server Edition (61 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2021 OpenLink Software