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GENATLAS PHENOTYPE

last update : 04/11/06

Symbol	EBSS
Location	3p21.31
Name	epidermolysis bullosa simplex superficialis
Other name(s)	epidermolysis bulosa dystrophica with subcorneal cleavage
Corresponding gene	COL7A1
Other symbol(s)	EBDSC
Main clinical features	epidermolysis bullosa simplex but having skin cleavage just below the level of the stratum corneum, a finding usually associated with peeling skin syndrome, with milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Remark(s)