The Classic Type:
Major diagnostic criteria
Hyperextensibility of the skin
Widened atrophic scars
Joint hypermobility
Can lead to osteoarthritis in the 3rd or 4th decade
Other features
Poor wound healing
½ of affected individuals are delivered up to 1 month premature due to premature rupture of fetal membranes
Some have cardiac abnormalities
Mitral valve prolapse
Aortic root dilation with occasional rupture
Scoliosis
Pes planus (flatfoot)
Molluscoid pseudotumors (calcified hematomas) may be associated with scars
Inheritance
Autosomal dominant single-gene disorder
Etiology
A major cause is mutations in type V collagen
At least 3 loci are involved
Biochemical Defects
Thickened collagen fibrils in skin as well as "cauliflower" deformities of collagen fibrils
Mutations in COL5A1 and COL5A2 have been seen in some families
No biochemical or molecular based testing methods have been devised to provide reliable results
Sounds very yucky really, however my case is classed as "mild" even though I have many of these characteristics.
Love Rowena
x x x x
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