You are using an outdated browser. Please upgrade your browser to improve your experience.

epidermolysis bullosa simplex due to exophilin 5 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A skin disease characterized by blistering of skin and mucosae, following minimal pressure or trauma. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. EBNS clinical features mainly comprise trauma-induced scale crusts and intermittent skin blistering. Some of the crusted areas are hemorrhagic and accompanied by occasional bruising. Most lesions clear over several weeks to leave slightly atrophic scars and moderate post-inflammatory hyperpigmentation.
Mondo Term and Equivalent IDs
MONDO:0014014:  epidermolysis bullosa simplex due to exophilin 5 deficiency
Orphanet:412189: 
UMLS:C3554367: