loading...| Preferred Name | Dystrophic epidermolysis bullosa | |
| Synonyms |
DEB Dermolytic epidermolysis bullosa Epidermolysis bullosa dystrophica |
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| Definitions |
A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_303 |
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| alternative_term |
DEB Dermolytic epidermolysis bullosa Epidermolysis bullosa dystrophica |
|
| definition |
A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=303 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
MeSH:D016108 UMLS:C0079294 ICD-10:Q81.2 ICD-11:EC32 |
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| label |
Dystrophic epidermolysis bullosa |
|
| notation |
Clinical group ORPHA:303 |
|
| prefixIRI |
ORDO:Orphanet_303 |
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| prefLabel |
Dystrophic epidermolysis bullosa |
|
| present_in |
Romania AND has_point_prevalence_average_value : 0.28 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 1.41 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.572 AND has_point_prevalence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 0.39 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.83 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_139027 |