Search on: COCKAYNE-TOURAINE DISEASE 
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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:   91 
Allowable Qualifiers English:  
blood cerebrospinal fluid
chemically induced classification
complications diet therapy
diagnosis drug therapy
economics ethnology
embryology enzymology
epidemiology etiology
genetics history
immunology metabolism
microbiology mortality
nursing pathology
prevention & control physiopathology
parasitology psychology
radiography rehabilitation
radionuclide imaging radiotherapy
surgery therapy
ultrastructure urine
ultrasonography veterinary
virology  
Record Number:   28925 
Unique Identifier:   D016108 

Occurrence in VHL: 		 

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