Show AllSpecific manifestations depend upon the type of EDS an individual or family has. The two most common types of EDS are the classic type and hypermobile type. Both of these types feature soft skin with varying degrees of stretchiness and poor wound healing. In addition, some individuals with EDS (up to 25%) may have heart complications.
Classic EDS is characterized by joint laxity, hyperextensibility of skin, and poor wound healing. The skin often has a soft and velvety texture and can be easily stretched. The skin is fragile and bruises easily. Individuals with classic EDS also experience abnormal scarring. They might have thin and atrophic scars following trauma or surgical procedures, or molluscoid pseudotumors (small spongy tumors found over scars and pressure points, made up of fat surrounded by a fibrous capsule).
- Approximately half of individuals with classic EDS are delivered prematurely due to premature rupture of fetal membranes
- Up to 1/3 of individuals have cardiac abnormalities which may include mitral valve prolapse and aortic root dilatation
- The joint hypermobility may lead to the onset of osteoarthritis in the third or fourth decade
- Musculoskeletal features include scoliosis and pes planus (flat feet)
To summarize, classic EDS (formerly EDS types I and II) is characterized by:
- Joint laxity / hypermobility (being "double-jointed")
- Soft, velvety, stretchy skin
- Abnormal scars (thinned or atrophic)
- Poor wound healing
- Easy bruising
Hypermobile EDS is characterized primarily by hyperextensibility of large and small joints and soft, velvety skin. Individuals with hypermobile EDS have normal scarring but may have stretchy skin. They do not have molluscoid pseudotumors.
Individuals with hypermobile EDS may also have cardiac disease similar to that in the classic type. They might have mitral valve prolapse and occasional dilation of the ascending aorta. Musculoskeletal features seen in classic EDS such as pes planus and scoliosis are also common.
To summarize, hypermobile EDS (formerly EDS type III) is characterized by:
- Joint laxity / hypermobility (being "double jointed")
- Soft, velvety skin which does not stretch as much as the classic type
- Normal scar formation
- Poor wound healing
- Chronic joint pain (more common in the hypermobile type than the classic type)
There are several other types of EDS, including: vascular, kyphoscoliosis, arthrochalasia and dermatosparaxis types.
Individuals with vascular EDS have a characteristic facial appearance with a thin, delicate appearing, and somewhat "pinched" nose, thin lips, hollow-appearing cheeks and occasionally a staring appearance due to decreased adipose (fatty) tissue below the eyes. In addition, individuals with vascular EDS have thin, translucent skin with easy bruising; scar formation is usually normal. Often, vasculature is easily visible beneath the skin. Affected individuals are at high risk for life-threatening rupture of the intestine, uterus, or medium-sized arteries. Stroke and uterine rupture following delivery is also common. Individuals with vascular EDS typically have hypermobility of the small joints (i.e., fingers) but do not have the level of joint hypermobility observed in classic and hypermobile EDS.
The kyphoscoliosis type is characterized by early onset of joint laxity, kyphoscoliosis (kyphosis and scoliosis; spinal deformity combining sideways curvature and hunching forward of the upper part of the spine) and hypotonia (low muscle tone). The sclera (white, protective, outer layer of the eyeball) is fragile. A minority of patients have ocular globe rupture. Skin fragility, easy bruisability, and skin hyperextensibility occur to some extent in most patients, although they are less prominent than in patients with classical EDS. Like those with the vascular form, those with the kyphoscoliosis form of EDS are at risk of having a potentially catastrophic arterial rupture. Most patients have radiologically detectable osteopenia (thin bones).
The arthrochalasia type of Ehlers-Danlos syndrome is characterized by extreme joint laxity, multiple joint dislocations and congenital hip dislocations that are often difficult to repair surgically. Skin findings include tissue fragility and widened scars, however, these findings are less prominent than in the classical form of EDS.
The dermatosparaxis type of EDS is characterized by striking dermal fragility (fragile skin). The skin is lax but not stretchy, and joint dislocation is usually not a feature. Infants have been reported with premature rupture of membranes, and umbilical and inguinal hernias may occur.
For all types of EDS, diagnosis is based on medical and family histories and physical examination. Genetic testing for the vascular type of EDS is available and useful for confirmation of a clinical diagnosis and for either confirming or ruling out a diagnosis in at-risk family members.
Classic Type
Skin hyperextensibility, widened atrophic scars and joint hypermobility are the major diagnostic criteria for the classical form of EDS.
Underlying Defect: Abnormal type V collagen observed in one-half of families
Genes: COL5A1, COL5A2
Diagnostic Testing: Fulfillment of clinical criteria
Hypermobile Type
Stretchy and velvety skin in addition to joint hypermobility are the major diagnostic criteria for hypermobile EDS.
Underlying Defect: Not known
Genes: Not known
Diagnostic Testing: Fulfillment of clinical criteria
Vascular Type
Characteristic facial appearance, thin, translucent skin, arterial / intestinal / uterine fragility or rupture, and extensive bruising are the major diagnostic criteria.
Underlying Defect: Abnormal type III collagen
Genes: COL3A1
Diagnostic Testing: Molecular testing / confirmation available (blood sample)
Kyphoscoliosis Type
Major diagnostic criteria include generalized joint laxity, severe muscle hypotonia at birth, progressive scoliosis at birth or within the first year of life, and scleral fragility and rupture of the ocular globe.
Underlying Defect: Enzyme deficiency (lysyl hydroxylase)
Genes: PLOD1
Diagnostic Testing: Measurement of the ratio of pyridinium cross-links (urine); DNA testing also available
Arthrochalasia Type
Severe generalized joint hypermobility with recurrent subluxations and congenital, bilateral hip dislocation are the major diagnostic criteria. Minor criteria include tissue fragility with widened atrophic scars, kyphoscoliosis and stretchy skin.
Underlying Defect: Abnormal type I collagen processing
Genes: CO15A1, COL1A2
Diagnostic Testing: None available
All types of EDS are inherited in an autosomal dominant manner, with the exception of the dermatosparaxis type, which demonstrates autosomal recessive inheritance. The term autosomal means that men and women are equally likely to inherit and / or pass on the condition. Dominant conditions typically affect individuals in every generation. If an individual has an autosomal dominant condition, like EDS, they have a 50% or 1 in 2 chance of passing the condition on to each of their children. The type of EDS remains the same within a family, so all affected members of the family will have the same type of EDS.
Although there is no "cure" for EDS, effective treatment of many of the symptoms is available. Management and treatment of Ehlers-Danlos syndrome are best discussed and understood by directing attention to the affected organ system. Because EDS can affect individuals with the same gene differently (“variable expressivity”), and because each individual experiences symptoms uniquely, specific management recommendations, including management of pain, are made on an individual basis.
