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Ehlers-Danlos syndrome - Skin
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Ehlers-Danlos syndrome - Skin

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Contributors: Sarah Stein MD, Karen Wiss MD, Sheila Galbraith MD, Craig N. Burkhart MD, Dean Morrell MD, Lynn Garfunkel MD, Nancy Esterly MD
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Synopsis

Ehlers-Danlos syndrome (EDS) encompasses a heterogenous group of inherited disorders caused by a defect in collagen and connective tissue production and function. There are 11 types of EDS, which were reclassified into 6 subtypes in 1997. Most forms are autosomal dominant. Over 30% of patients do not fit exactly one subtype, and overlap is common. Each varies in severity, ranging from asymptomatic to debilitating disease. EDS can affect the skin, joints, and blood vessels leading to skin hyperextensibility, fragility, bruisability, and joint hypermobility. Mitral valve prolapse is a common complication, and aortic dilatation is less common but should be screened for in patients. Flat feet, kyphosis, and scoliosis can also occur. Patients often have joint and tendon sprains, dislocations, or subluxations (most commonly in the shoulder, patella, and temporomandibular joints), leading to chronic joint pain in addition to wound dehiscence and impaired healing.

Classification:
  • Hypermotility (type III): The most common type (affecting 1 in 10–15,000), symptoms include marked joint hypermotility, instability, and chronic joint pain, but with minimal skin hyperextensibility and scar formation.
  • Classical (types I and II): Affecting fewer than 1 in 20–40,000 people, symptoms include hyperextensible, velvety, fragile skin with bruisability and poor wound healing. Nodules are common on the knees and elbows. Joints are hypermobile and prone to dislocation. Pregnancy can be life-threatening.
  • Vascular (type IV): Estimated 1 in 100–200,000 people affected, this is one of the most serious subtypes, and patients often have a shortened lifespan secondary to arterial, uterine, or intestinal rupture. Characterized by thin, translucent skin with prominent veins and extensive bruising, and joint hypermotility limited to the digits. Spontaneous rupture of mid- to large-size arteries can occur in childhood, although most often occurs in the third or fourth decade. Distinctive facial features include protruding eyes, thin nose and lips, small chin, and sunken cheeks. There is significant risk in surgery due to poor wound healing and bleeding.
  • Kyphoscoliosis (type VI): Uncommon, with fewer than 60 cases worldwide, symptoms include scoliosis, progressive muscular weakness and ocular, especially scleral, fragility.
  • Arthrochalasia (types VII A and B): Rare, with 30 cases worldwide, symptoms include joint hypermobility with dislocations (including the hips), hyperextensible skin, and early onset osteoarthritis with increased risk of bone fracture.
  • Dermatosparaxis (type VII C): Very rare, with 10 cases worldwide, symptoms include joint laxity and hypermotility, often leading to delayed large-motor skills in children. Patients also have skin fragility with loss of elasticity.
Other types are very rare and not well-defined. However, some characteristics include:
  • Type V: Skin fragility, but without significant bruising or joint hypermotility.
  • Type VIII: (Periodontal form) leading to early periodontal disease with associated skin and joint hyperextensibility.
  • Type IX: Removed from the EDS classification, now known as Menkes syndrome.
  • Type X and XI: Similar to mild classical EDS. Type X is fibronectin deficient type leading to clotting defects from abnormal platelet aggregation.
For more information, see OMIM.

Codes

ICD10CM:
Q79.6 – Ehlers-Danlos syndrome

SNOMEDCT:
398114001 – Ehlers-Danlos syndrome

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Last Updated: 03/29/2017
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Ehlers-Danlos syndrome - Skin
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Ehlers-Danlos syndrome (Classic Type 1&2) : Easy bruising, Hyperextensible skin, Joint hypermobility, Non-healing skin lesions, Atrophic scars
Clinical image of Ehlers-Danlos syndrome
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