The dermatosparaxis type of Ehlers-Danlos syndrome (EDS Types VIIC) is associated with fragile and sagging skin. The diagnosis can be confirmed by laboratory testing.


Inheritance: autosomal recessive


Biochemical Defect: Deficiency of procollagen 1 N-terminal peptidase.


Major criteria:

(1) severe skin fragility

(2) sagging, redundant skin


Minor criteria:

(1) soft, doughy skin texture

(2) easy bruisability

(3) premature rupture of the fetal membranes

(4) large hernias (umbilical, inguinal, incisional, etc.)

(5) family history with affected siblings


Other findings:

(1) Wound healing is not impaired.

(2) Scars are not atrophic.


Laboratory confirmation:

(1) electrophoresis of procollagen chains extracted from dermal fibroblasts

(2) measurement of N-proteinase activity (research)


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