dEDS is a genetic connective tissue disorder that causes extreme skin fragility, excess loose skin, and severe bruising.
Dermatosparaxis Ehlers-Danlos Syndrome (dEDS)
dEDS is an ultra-rare disorder that affects less than 1 in 1 million people.
dEDS is caused by differences in the genes called genetic variants. These genetic variants affect the connective tissue, which provides support, protection, and structure throughout the body.
dEDS is caused by genetic variants of the ADAMTS2 gene.
dEDS is inherited in an autosomal recessive pattern. This means if a person inherits the genetic variant from both of their parents, they will have dEDS. People with one copy of the genetic variant are carriers of dEDS. Carriers do not have the condition themselves but may pass the genetic variant on to their children.
dEDS may be suspected if a person has:
- Severe skin fragility
- Loose excess skin
- Severe bruising
- Umbilical hernia at birth
- Soft, doughy skin texture
- Joint hypermobility
- Short limbs
- Craniofacial features, such as:
- Prominent and protuberant eyes with puffy, edematous eyelids and excessive periorbital skin
- Large fontanels and/or wide cranial sutures
- Hypoplastic chin
- Blue or gray discoloration of the sclerae
If a person meets the diagnostic criteria for dEDS, genetic testing should be done to confirm the diagnosis. Genetic testing is used to see if a person has the genetic variants that cause dEDS.
To meet the diagnostic criteria for dEDS, a person must meet:
- Major criterion 1 AND major criterion 2 AND at least one other major criterion
- Major criterion 1 AND major criterion 2 AND at least three minor 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 hemorrhage
- Umbilical hernia
- Postnatal growth retardation
- Short limbs, hand and feet
- Perinatal complications due to connective tissue fragility
- Soft and doughy skin texture
- Skin hyperextensibility
- Atrophic scars
- Generalized joint hypermobility
- Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse)
- Delayed motor development
- Tooth abnormalities
- Refractive errors (myopia, astigmatism)
dEDS is managed by addressing the symptoms a person is experiencing. dEDS can cause a variety of symptoms in many different areas of the body, so people with dEDS may require multiple providers in different specialties to manage their care. Key aspects of care focus on the skin and joints. Each person should work with their care team to develop a care plan that meets their individual needs.
Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type
The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC)
The Ehlers-Danlos Syndromes, Rare Types
The 2017 International Classification of the Ehlers-Danlos Syndromes
Dermatosparaxis Ehlers-Danlos Syndrome (dEDS) – Professor Fransiska Malfait