Dermatosparaxis EDS (dEDS)

ESTIMATED PREVALENCE: <1 in 1,000,000 [43]

INHERITANCE PATTERN: Autosomal Recessive

SYMPTOMS [44, 45]:

Dermatosparaxis EDS (dEDS) symptoms are present at birth or infancy and overwhelmingly involve the skin. Typically, symptoms involving the skin consist of soft, almost doughy-like skin that is often saggy, wrinkled or redundant, very fragile, and/or tears, bruises, and scars easily. Also, joint hypermobility, dysmorphic facial features (such as a large fontanelle, blue sclera, an unusually prominent forehead, or undeveloped facial features), and/or large hernias are often present. Premature rupture of membranes (PROM) (a tearing of the amniotic sac) can occur before birth.

Dermatosparaxis was first discovered in cattle and later found in sheep, cats, and dogs. The word “dermatosparaxis” means “tearing of the skin”. Thus, in animals, it results in large skin lacerations both at birth and early in life. These skin lacerations often result in infections and death at an early age. dEDS in humans is extremely rare, as it affects less than 1,000 in the USA.

DIAGNOSTIC CRITERIA [46]:

To diagnose dEDS, the following formula must be satisfied:

Major Criterion #1 + Major Criterion #2 + one other Major Criterion, OR three (3) Minor Criteria

To be diagnosed, Major Criterion #1 (extreme skin fragility with congenital or postnatal skin tears), plus Major Criterion #2 (craniofacial features, which are evident at birth, early infancy, or childhood), plus Major Criterion #3 (redundant, lax skin with excessive skin folds at the wrists and ankles), or three (3) Minor Criteria must be fulfilled. To confirm a suspected diagnosis, molecular genetic testing must be performed.

The major and minor criteria and the genetic markers responsible for dEDS can be found in the chart below.

Major Diagnostic 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 bruising 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

Minor Diagnostic 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

Genetic Markers:

ADAMTS2