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Eds Type 4 (Vascular) : - Definition
Eds Type 4 (Vascular) : - Definition
Eds Type 4 (Vascular) : - Definition
(VASCULAR)
-Definition :
It is an autosomal dominant defect in type III
collagen synthesis affecting blood vessels and internal
organs leading to their split and life-threatening bleeding.
-Rate :
It affects approximately 1 in 50,000 to 1 in 200,000.
-Genetic mutation :
It is caused due mutations in the COL3A1 gene
leading to mutations in collagen fibrils proteins.
-Major features:
*Arterial & Intestinal rupture.
-Minor features:
*Thin, translucent skin (especially noticeable on the chest/abdomen).
-Definition
It is considered as X-linked EDS occuring due to
deficiency in the activity of lysyl oxidase that is
responsible for oxidative deamination of lysine and
hydroxylysine in collagen as a first step in cross-linking of collagen.
-General features :
*hyperextensible skin.
*skin bruising.
EDS TYPE 6
(KYPHOSCOLIOSIS)
-Definition:
It is an autosomal recessive defect due to deficiency
in an enzyme called lysyl hydroxylase.
-Rate:
It is very rare, with fewer than 60 cases reported.
-Genetic mutation:
It is caused due mutations in PLOD gene
leading to mutations in the enzyme lysyl hydroxylase.
So, signs and symptoms of kyphoscoliosis appear.
-Major features:
*severe congenital hypotonia.
*progressive scoliosis.
*scleral fragility.
-Minor features:
*widened atrophic scars.
-Definition:
Is an autosomal dominant defect which affects type-I collagen.
-Rate :
Very rare , only 30 cases are reported.
-Genetic mutation :
Caused due to mutations in COL1A1, COL1A2 genes
leading to mutations in the proteins formed by these genes.
So, signs and symptoms of arthrochalasia appear.
-General features :
*congenital hip dislocations.
*muscle hypotonia.
*Frequent fractures.
-Diagnosis testing:
The diagnosis can be confirmed by COL1A1 and COL1A2
DNA sequencing with analysis of exon 6.
FIG.3 CLINICAL FEATURE OF MUSCLE
HYPOTONIA IN ARTHROCHALASIA (EDS
TYPE ).
EDS TYPE 7C
(DERMATOSPARAXIS)
-Definition:
It is considered as an autosomal recessive genetic disorder.
-Rate:
Very rare , approximately 10 cases are reported.
-Genetic mutations :
It is caused due to genetic disorder in ADAMTS2 gene
leading to mutations in proteins formed by these genes.
So, signs and symptoms of dermatosparaxis appear.
-General features :
*extremely fragile and sagging skin.
-Diagnosis :
The diagnosis is made by sequencing of the ADAMTS2 gene.
Fig.4 Clinical feature of EDS
type 7C ( Dermatosperaxis )