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GENATLAS PHENOTYPE

last update : 30/05/2007

Symbol	EBSPD
Location	1q32
Name	epidermolysis bullosa simplex, plakophilin-1 deficiency
Other name(s)	ectodermal dysplasia/skin fragility syndrome McGrath syndrome
Corresponding gene	PKP1
Main clinical features	cutaneous fragility and congenital ectodermal dysplasia, affecting skin, hair and nails blistering and desquamation on face, limbs, and buttocks, hair short and sparse, and nails thickened and dystrophic, trauma-induced tearing and blisters on the pressure points of the soles after prolonged standing or walking light microscopy of the skin revealed thickening of the epidermis and extensive widening of keratinocyte intercellular spaces, extending from the first suprabasal layer upward.; electron microscopy showed a loss of keratinocyte-keratinocyte adhesion, and desmosomes, particularly in the lower suprabasal layers
Genetic determination	autosomal recessive
Function/system disorder	dermatology
Type	disease

Gene product

Name	plakophilin 1

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types			spl, del, nonsense

Remark(s)