Search on: HALLOPEAU-SIEMENS DISEASE 
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Descriptor English:   Epidermolysis Bullosa Dystrophica 
Descriptor Spanish:   Epidermólisis Ampollosa Distrófica 
Descriptor Portuguese:   Epidermólise Bolhosa Distrófica 
Synonyms English:   Cockayne-Touraine Type Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type
Epidermolysis Bullosa Dystrophica, Dominant
Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type
Epidermolysis Bullosa Dystrophica, Recessive
Bullosa Dystrophica, Epidermolysis
Bullosa Dystrophicas, Epidermolysis
Bullosa, Dystrophic Epidermolysis
Bullosas, Dystrophic Epidermolysis
Cockayne Touraine Disease
Cockayne Touraine Type Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosas
Dystrophica, Epidermolysis Bullosa
Dystrophicas, Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type
Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type
Epidermolysis Bullosa Dystrophicas
Epidermolysis Bullosas, Dystrophic
Hallopeau Siemens Disease
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   28925 
Unique Identifier:   D016108 

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