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.
(1) severe skin fragility
(2) sagging, redundant skin
(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
(1) Wound healing is not impaired.
(2) Scars are not atrophic.
(1) electrophoresis of procollagen chains extracted from dermal fibroblasts
(2) measurement of N-proteinase activity (research)
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