Dermatosparaxis Ehlers-Danlos syndrome

Other Names: Dermatosparaxis; Ehlers-Danlos syndrome type 7C (formerly); Ehlers-Danlos syndrome, dermatosparaxis type; Dermatosparaxis EDS; dEDS

Dermatosparaxis Ehlers-Danlos syndrome (dEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility.

Cause

Dermatosparaxis EDS (dEDS) is caused by changes (mutations) in the ADAMTS2 gene. This gene encodes an enzyme that helps process several types of "procollagen molecules" (precursors of collagen). Collagen is a protein that provides structure and strength to connective tissues throughout the body. Mutations in ADAMTS2 lead to reduced levels of functional enzyme which interferes with the proper processing of procollagens. As a result, networks of collagen are not assembled properly. This weakens connective tissues and causes the many signs and symptoms associated with dEDS.

Inheritance

Autosomal recessive inheritance, a 25% chance

Dermatosparaxis EDS (dEDS) is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Signs and symptoms

The signs and symptoms of dermatosparaxis EDS (dEDS) vary but may include:

• Soft, doughy skin that is extremely fragile
• Severe bruising and scarring
• Saggy, redundant skin, especially on the face
• Hernias
• Short stature
• Delayed closure of the fontanelles
• Short fingers
• Characteristic facial appearance with puffy eyelids, blue sclerae (whites of the eyes), epicanthal folds, downslanting palpebral fissures (outside corners of the eyes that point downward) and micrognathia
• Rupture of the bladder or diaphragm
• Mild to severe joint hypermobility

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormality of subcutaneous fat tissue(Abnormality of fatty tissue below the skin)
• Aphasia(Difficulty finding words)
• Avascular necrosis of the capital femoral epiphysis
• Coxa valga
• Coxa vara
• Dysphasia
• Echolalia(Echoing another person's speech)
• Esophagitis(Inflammation of the esophagus)
• Excessive wrinkled skin
• Gastroesophageal reflux(Acid reflux)
• Hiatus hernia(Stomach hernia)
• Hip dislocation(Dislocated hips)
• Hip dysplasia
• Hyperextensible skin(Hyperelastic skin)
• Joint hyperflexibility(Joints move beyond expected range of motion)
• Joint stiffness(Stiff joint)
• Muscular hypotonia(Low or weak muscle tone)
• Mutism(Inability to speak)
• Osteomalacia(Softening of the bones)
• Osteopenia
• Osteoporosis
• Prolonged bleeding time
• Rickets(Weak and soft bones)
• Scarring
• Severe short stature(Dwarfism)
• Thin skin

30%-79% of people have these symptoms

• Depressed nasal bridge(Depressed bridge of nose)
• Epicanthus(Eye folds)
• Femoral hernia
• Inguinal hernia
• Micrognathia(Little lower jaw)
• Retrognathia(Receding chin)
• Scoliosis

Diagnosis

A diagnosis of dermatosparaxis Ehlers-Danlos syndrome (dEDS) is typically based on the presence of characteristic signs and symptoms. The main clinical features for diagnosis (major and minor criteria) include: Major criteria:

• Extreme skin fragility with congenital or postnatal skin tears
• Characteristic craniofacial features, which are evident at birth or early infancy, or evolve later in childhood
• Redundant, almost lax skin, with excessive skin folds at the wrists and ankles
• Increased palmar wrinkling
• Severe bruisability with a risk of subcutaneous hematomas and haemorrhage
• Umbilical hernia
• Postnatal growth retardation
• Short limbs, hand and feet
• Perinatal complications due to connective tissue fragility
• Minor criteria
• Soft and doughy skin texture
• Skin hyperextensibility
• Atrophic scars
• GJH
• Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse)
• Delayed motor development
• Osteopenia
• Hirsutism
• Tooth abnormalities
• Refractive errors (myopia, astigmatism)
• Strabismus

Minimal criteria suggestive for dEDS: –Major criterion (1): extreme skin fragility –AND major criterion (2): characteristic craniofacial features Plus –Either: one other major criterion –And/or: three minor criteria Diagnosis is confirmed by genetic testing showing a change (mutation) in the ADAMTS2 gene. When testing is not available a skin biopsy can be ordered to help with the diagnosis but it is not enough to confirm it.

Treatment

The treatment of dermatosparaxis EDS (dEDS) is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with moderate to severe joint hypermobility. Assistive devices such as braces, wheelchairs, or scooters may also be necessary depending on the severity of joint instability. Hernias may be treated with surgery. Because dEDS is associated with extremely fragile skin, affected people, especially children, may need to use protective bandages or pads over exposed areas, such as the knees, shins, and forehead. Heavy exercise and contact sports may also need to be avoided due to skin fragility and easy bruising.

NIH genetic and rare disease info

• NIH info on Dermatosparaxis Ehlers-Danlos syndrome

Dermatosparaxis Ehlers-Danlos syndrome is a rare disease.

Dermatosparaxis Ehlers-Danlos syndrome Resources
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