ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (52)
Ehlers-Danlos syndrome in Adult
Print
Other Resources UpToDate PubMed

Ehlers-Danlos syndrome in Adult

Print Images (52)
Contributors: Sarah Stein MD, Karen Wiss MD, Sheila Galbraith MD, Craig N. Burkhart MD, Dean Morrell MD, Lynn Garfunkel MD
Other Resources UpToDate PubMed

Alerts and Notices

Synopsis

Ehlers-Danlos syndrome (Classic Type 1&2) : Easy bruising, Hyperextensible skin, Joint hypermobility, Non-healing skin lesions, Atrophic scars
Classic Type 1&2
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 3): 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 1 and 2): 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 4): 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 this 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 6): Uncommon, with fewer than 60 cases worldwide; symptoms include scoliosis, progressive muscular weakness, and ocular, especially scleral, fragility.
  • Arthrochalasia (types 7 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 7 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 5: Skin fragility, but without significant bruising or joint hypermotility.
  • Type 8: Periodontal form leading to early periodontal disease with associated skin and joint hyperextensibility.
  • Type 9: Removed from the EDS classification, now known as Menkes syndrome.
  • Type 10 and 11: Similar to mild classical EDS. Type X is fibronectin deficient type leading to clotting defects from abnormal platelet aggregation.
For more information, see OMIM.

Related topic: Cystic medial necrosis

Codes

ICD10CM:
Q79.6 – Ehlers-Danlos syndrome

SNOMEDCT:
398114001 – Ehlers-Danlos syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated:05/13/2020
Copyright © 2021 VisualDx®. All rights reserved.
Ehlers-Danlos syndrome in Adult
Print   Filter Images View all Images (52)
(with subscription) Reset
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

+50 More images of Ehlers-Danlos syndrome with subscription

Copyright © 2021 VisualDx®. All rights reserved.