Skin fragility syndrome
(Q7535394)
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering
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Current Data About
Skin fragility syndrome
(P31) |
(Q55788864)
(Q929833) (Q112193867) |
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(P279) |
(Q3124960)
(Q55785543)
(Q55786711)
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(P2293) |
(Q18030570)
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(P2888) |
http://www.orpha.net/ORDO/Orphanet_158668
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other details
aliases |
Epidermolysis bullosa simplex due to plakophilin deficiency McGrath syndrome Ectodermal dysplasia-skin fragility syndrome ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME |
description | Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering |
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