Rare EDS Types

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Kyphoscoliosis, Arthrochalasia and Dermatosparaxis types of Ehlers-Danlos Syndrome are all very rare, between them all there may be as few as 100 cases confirmed. There is limited information available of the Tenascin-X Deficient Type of EDS, and few reported cases.



Kyphoscoliosis Type
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The Kyphoscoliosis Type of EDS is characterized by generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth.  The muscular hypotonia can be very pronounced and leads to delayed gross motor development.  Individuals with the Kyphoscoliosis Type of EDS present with a progressive form of scoliosis at birth. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade. Scleral fragility may lead to rupture of the ocular globe after minor trauma. This type of EDS includes tissue fragility including atrophic scars and easy bruising. Spontaneous arterial rupture can occur. Other findings of Kyphoscoliosis may include, Marfan-like features, an abrnormally small cornea, and a diminished about of bone tissue.

 
The Kyphoscoliosis Type of EDS is the result of a deficiency of lysylhydroxylase (PLOD), which is a collagen-modifying enzyme. This type of EDS is inherited in an autosomal recessive manner. The Kyphoscoliosis Type of EDS can be diagnosed through a urine test.




Arthrochalasia Type
Hypotonia-Decreased-Muscle-Tone
The Arthrochalasia Type of EDS is characterized by congenital hip dislocation which is present in all biochemically proven individuals with this type of EDS.  Severe generalized joint hypermobility with recurrent subluxations are seen in individuals with this type of EDS.  Other manifestations of this type may include, stretchy skin, easy bruising, tissue fragility including paper-thin scars, Muscle Hypotonia (floppy baby), Kyphoscholiosis, and low bone density.
 
The Arthrochalasia Type of EDS is caused by mutations leading to deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. It is inherited in an autosomal dominant manner. A skin biopsy can also diagnose this type of EDS.

 



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Dermatosparaxis Type
The Dermatosparaxis Type of EDS is characterized by severe skin fragility and substantial bruising. Wound healing is not impaired and the scars are not atrophic. The skin texture is soft and doughy. Sagging, redundant skin is evident. The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias(umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small.
 
The Dermatosparaxis Type of EDS is caused by a deficiency of procollagenI N-terminal peptidase. It is inherited in a autosomal recessive manner. A skin biopsy can diagnose this type of EDS.


Tenascin-X Deficient Type

The Tenascin-X Deficient Type of EDS is characterized by joint hypermobility, hyperelastic skin, and fragile tissue. Lacking multiple shrinking (atrophied) scars in the skin that is often seen in the Classic Type of Ehlers-Danlos Syndrome. Inherited as an autosomal recessive genetic trait (not seen in family members or only in one generation of members of the same family). Testing has only recently become available in the UK. Therefore there is limited information available and many health professionals will not have seen someone with this diagnosis. In 2012, there were reported only 4 cases.

Other Related Topics

Ehlers-Danlos Syndrome

Different Types of EDS

Classical Type-(my Story)

Hypermobile Type

Vascular Type

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