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Ehlers-Danlos Syndrome, Dermatosparaxis Type

Last updated March 19, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Ehlers-Danlos Syndrome, Dermatosparaxis Type is an extremely rare, inherited connective tissue disorder caused by abnormalities in the formation of collagen, an important and the most abundant protein in the body.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Dermatosparaxis Type EDS

What is Ehlers-Danlos Syndrome, Dermatosparaxis Type? (Definition/Background Information)

  • Ehlers-Danlos Syndrome, Dermatosparaxis Type is an extremely rare, inherited connective tissue disorder caused by abnormalities in the formation of collagen, an important and the most abundant protein in the body:
    • Connective tissue is made up of structural proteins known as collagens and fibroblast cells, which are arranged in rows
    • These tissues connect bone-bone and muscle-bone, and give strength, support, and elasticity to various structures of the body, like skin, joints, and walls of blood vessels
    • There are 3 types of connective tissue, namely, tendons, ligaments and cartilages
  • Ehlers-Danlos Syndrome (EDS), Dermatosparaxis Type cases have been reported in infants and children. It is caused by mutation(s) in the ADAMTS2 gene. ADAMTS2 gene mutations are inherited in an autosomal recessive manner
  • This gene codes for an enzyme that catalyzes the conversion of the precursor procollagen molecules to mature collagen. A mutation in the ADAMTS2 gene, disrupts the formation of mature collagen molecules, and therefore, the assembly of the collagen matrix. The abnormal collagen matrix leads to weakening of tissues and organs, leading to symptoms of the disorder
  • The symptoms of Dermatosparaxis Type EDS include extreme joint flexibility, susceptibility for joint dislocations, loose, sagging skin, easy bruising, and hernia (inguinal and umbilical). The disorder can lead to damage of internal organs, problems with blood clotting, and speech impairment
  • The diagnosis of Dermatosparaxis Type EDS is made by conducting a variety of exams including a physical examination, symptom assessment, evaluation of family medical history, collagen typing, and molecular genetic testing to ascertain gene mutations
  • The treatment options for Ehlers-Danlos Syndrome, Dermatosparaxis Type involve medications for pain and blood pressure, physical therapy, and surgery to correct bone dislocations. The prognosis depends on the severity of symptoms and overall health of the affected individual. Severe complications may affect the quality of one’s life
  • Since the disorder is caused by inherited gene mutations; presently, there are no measures available to prevent its occurrence. However, if there is a family history of Dermatosparaxis Type EDS, prospective parents may benefit from gene mutations testing and genetic counseling

Who gets Ehlers-Danlos Syndrome, Dermatosparaxis Type? (Age and Sex Distribution)

  • Ehlers-Danlos Syndrome, Dermatosparaxis Type is an extremely rare disorder, with only about a dozen cases reported in the scientific literature
  • The manifestation of the disorder is typically seen during infancy and childhood
  • There is no gender, ethnic, or racial bias in the occurrence of Dermatosparaxis Type EDS

What are the Risk Factors for Ehlers-Danlos Syndrome, Dermatosparaxis Type? (Predisposing Factors)

The following are the risk factors for developing Ehlers-Danlos Syndrome, Dermatosparaxis Type:

  • A family history of the disorder
  • Having parents, who are close blood relatives (such as first cousins)

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Ehlers-Danlos Syndrome, Dermatosparaxis Type? (Etiology)

Ehlers-Danlos Syndrome, Dermatosparaxis Type is caused by mutation(s) in the ADAMTS2 gene:

  • The ADAMTS2 gene codes for the enzyme called “disintegrin and metalloproteinase with thrombospondin motifs-2” or ADAMTS2 enzyme
  • This enzyme catalyzes the conversion of collagen precursor molecules (known as procollagen) to collagen, by shortening them. This process facilitates the assembly of collagen molecules into fibrils, to render strength and flexibility to the connective tissue
  • Therefore, a mutation in this gene interferes with the formation of mature collagen molecules, disrupting the assembly of collagen fibrils. This results in Dermatosparaxis Type EDS

Mutations in ADAMTS2 gene are inherited in an autosomal recessive manner. In this type of inheritance, an individual must possess both copies of the causative gene in the defective form in every cell of his/her body for the disorder to manifest itself. An affected individual inherits one defective copy from each parent. The parents are carriers of the disorder and are generally not affected.

What are the Signs and Symptoms of Ehlers-Danlos Syndrome, Dermatosparaxis Type?

The type and severity of symptoms can vary between individuals with Ehlers-Danlos Syndrome, Dermatosparaxis Type, and may include:

  • Presence of loose, sagging, elastic skin; abnormally-thin skin
  • A tendency to bruise easily
  • Permanent skin scarring
  • Loose joints (laxity of joints); overly-flexible joints i.e., a range of joint movement beyond what is normally observed
  • Joint pain; vulnerability to joint dislocations
  • A tendency to develop early-onset osteoarthritis
  • Abnormalities in blood clotting
  • Fragile internal organs and other tissues
  • Protrusion of soft tissues through a weakening in the abdominal wall (inguinal hernia)
  • Protrusion of intestine through a weak point in the muscles surrounding the navel (umbilical hernia
  • Abnormal facial features such as:
    • Widely-spaced eyes
    • Epicanthal folds
    • Flat nasal bridge
    • Sagging skin
  • Scoliosis (in about 50% of affected individuals)
  • Short stature

How is Ehlers-Danlos Syndrome, Dermatosparaxis Type Diagnosed?

The diagnosis of Ehlers-Danlos Syndrome, Dermatosparaxis Type is undertaken with the help of the following tests and exams:

  • A thorough physical examination and an assessment of symptoms
  • An evaluation of personal and family medical history
  • Measurement of skin hyperextensibilty, by pulling up skin, till resistance is registered
  • Beighton scale hypermobility testing for joints: This operates on a 9-point system; a score of over 6 may indicate hypermobility
  • Collagen typing using a skin biopsy sample
  • Collagen skin mutation testing
  • Electron microscopic observation of a skin sample
  • Blood tests for checking the following:
    • Blood cell count
    • Platelets abnormalities
  • Imaging tests such as X-ray, computed tomography (CT) scanning, or magnetic resonance imaging (MRI):
    • To visualize bone deformities such as scoliosis and loss of bone mass
    • For structural abnormalities of internal organs
  • Genetic testing to confirm mutations in ADAMTS2 gene

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Ehlers-Danlos Syndrome, Dermatosparaxis Type?

Ehlers-Danlos Syndrome, Dermatosparaxis Type can lead to the following complications:

  • Bruising of skin (often at the same locations) and permanent scarring
  • Repeated joint dislocations
  • Early-onset arthritis
  • Spontaneous rupture of blood vessels
  • Hernia (inguinal and umbilical), which may be painful
  • Speech impairment

How is Ehlers-Danlos Syndrome, Dermatosparaxis Type Treated?

The treatment for Ehlers-Danlos Syndrome, Dermatosparaxis Type is geared towards addressing the symptoms and reducing complications, since the disorder does not have a cure. The treatment options may include:

  • Medications for pain relief: The strength of medication administered depends on the severity of pain
  • Proper and balanced nutrition
  • Vitamin C supplements may be recommended to aid in collagen synthesis and wound healing
  • Physiotherapy to strengthen muscles around weak joints
  • Braces to stabilize joints and minimize dislocations
  • Surgery is undertaken for the following:
    • To repair joints damaged by repeated dislocations, if necessary
    • To repair hernia

How can Ehlers-Danlos Syndrome, Dermatosparaxis Type be Prevented?

Ehlers-Danlos Syndrome, Dermatosparaxis Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • In individuals who are diagnosed with Dermatosparaxis Type EDS, the following may be helpful in reducing injuries, dislocations, and bleeding:
    • Avoiding contact sports and other activities that may cause injury
    • Wearing padding over joints that are vulnerable to dislocation
    • If surgery becomes necessary, then taking precautions against bleeding before, during, and after the procedure or surgery
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Ehlers-Danlos Syndrome, Dermatosparaxis Type

Regular medical screening at periodic intervals with tests, and physical examinations are crucial and are highly recommended.

What is the Prognosis of Ehlers-Danlos Syndrome, Dermatosparaxis Type? (Outcomes/Resolutions)

  • The prognosis of Ehlers-Danlos Syndrome, Dermatosparaxis Type is determined by the severity of symptoms and development of complications
  • Repeated joint dislocations and speech impairment may affect the quality of life, although individuals are known to have a normal lifespan

Additional and Relevant Useful Information for Ehlers-Danlos Syndrome, Dermatosparaxis Type:

Please visit our Congenital & Genetic Disorders Health Center for more physician-approved health information:

http://www.dovemed.com/diseases-conditions/congenital-genetic-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 7, 2017
Last updated: March 19, 2018