David Adelson MD
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Sanah Ali MD
Carl Allen DDS, MSD
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Sarah Hocker DO
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Edward O'Keefe ND
Daniel C. Oppenheimer MD
Art Papier MD
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Tanner Parrent MD
Mukesh Patel MD
Lauren Patty-Daskivich MD
David Peng MD, MPH
Robert Penne MD
Nitipong Permpalung MD
Frank Johannes Plate MD, PhD
Miriam Pomeranz MD
Doug Powell MD
Harold S. Rabinovitz MD
Christopher J. Rapuano MD
Sireesha Reddy MD
Angela Restrepo MD, PhD
Cynthia Reyes-Barron MD
Bertrand Richert MD, PhD
J. Martin Rodriguez, MD, FACP
Theodore Rosen MD
Misha Rosenbach MD
Scott Schiffman MD
Robert H. Schosser MD
Glynis A. Scott MD
Carlos Seas MD, MSc
Deniz Seçkin MD
Daniel Sexton MD
Paul K. Shitabata MD
Tor Shwayder MD, FAAP, FAAD
Daniel Siegel, MD
Elaine Siegfried MD
Gene Sienkiewicz MD
Christye Sisson
Jonathan Soh MD
Philip I. Song MD
Mary J. Spencer MD, FAAP
Lawrence B. Stack MD
Sarah Stein MD
William Van Stoecker MD
Frances J. Storrs MD
Erik J. Stratman MD
Lindsay C. Strowd MD
Erika Summers MD
Belinda Tan MD, PhD
Robert Tomsick MD
Hensin Tsao MD, PhD
Richard P. Usatine MD
Jenny Valverde MD
Vishalakshi Viswanath MD
Susan Voci MD
Lisa Wallin ANP, FCCWS
Douglas Walsh MD
Ryan R. Walsh MD
George Watt MD
Erin X. Wei MD
Zachary Werle DO
Clayton E. Wheeler MD
Sally-Ann Whelan MS, NP, CWOCN
Danielle Wilbur MD
Jan Willems MD, PhD
Victoria L. Williams MD
James Henry Willig MD, MPH
Kelly Wilmas MD
Karen Wiss MD
Vivian Wong MD, PhD
Sook-Bin Woo MS, DMD, MMSc
Jamie Woodcock MD
Stephen J. Xenias MD
Nathaniel Yohannes
Lisa Zaba MD
Vijay Zawar MD
Bonnnie Zhang MD
Carolyn Ziemer MD
Barret Zimmerman MD
Jeffrey P. Zwerner MD, PhD
Organizations
American Academy of Dermatology
Am. Journal of Trop. Med & Hygiene
Armed Forces Pest Management Board
Blackwell Publishing
Broward Health Medical Center
Bugwood Network
Centers For Disease Control and Prevention
Centro Internacional de Entrenamiento e Investigaciones Mèdicas (CIDEIM)
Dermatology Associates of Concord
Dermatology Online Journal
East Carolina University (ECU), Division of Dermatology
International Atomic Energy Agency
Massachusetts Medical Society
NYU Department of Dermatology
Oregon Health & Science University (OHSU)
Oxford University Press
Radiological Society of North America
Washington Hospital Center
Wikipedia
World Health Organization
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. Carotid-cavernous sinus fistula occurs in 10% of these patients; sudden blurred vision and ocular pain occur. Rapid intervention is needed to preserve the patient's vision.
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.