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COCKAYNE-TOURAINE DISEASE
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DeCS
Descriptor
English
:
Epidermolysis Bullosa Dystrophica
Descriptor
Spanish
:
Epidermólisis Ampollosa Distrófica
Descriptor
Portuguese
:
Epidermólise Bolhosa Distrófica
Synonyms
English
:
Cockayne-Touraine Disease
Epidermolysis Bullosa, Dystrophic
Hallopeau-Siemens Disease
Tree Number:
C16.131.831.493.160
C16.320.850.275.160
C17.300.200.367
C17.800.804.493.160
C17.800.827.275.160
C17.800.865.410.160
Definition
English
:
Form of
epidermolysis bullosa
characterized by
atrophy
of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive
forms
. All
forms
of dystrophic
epidermolysis bullosa
result from mutations in
COLLAGEN TYPE VII
, a major component fibrils of
BASEMENT MEMBRANE
and
EPIDERMIS.
History Note
English
:
1991
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
28925
Unique Identifier:
D016108
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS