Ehlers–Danlos syndrome

Ehlers–Danlos syndromes (EDS) are a group of genetic connective tissue disorders. Symptoms may include loose joints, joint pain, stretchy skin, and abnormal scar formation. These can be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.Individual with EDS showing hypermobile fingers, including the 'swan-neck' malformation on the 2nd-5th digits, and a hypermobile thumbIndividual with an EDS displaying hypermobile thumbIndividual with EDS displaying hypermobile metacarpophalangeal jointsAtrophic scar in a case of EDSTranslucent skin in vascular EDSIndividual with EDS displaying skin hyperelasticityPiezogenic papules on the heel of an individual with hypermobile EDSEDS in a dogSame dog with EDSEDS in same dog showing an atrophic scarSt Bernard (dog) with Ehlers-Danlos-like syndrome showing hyperextensible skinsee also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder Ehlers–Danlos syndromes (EDS) are a group of genetic connective tissue disorders. Symptoms may include loose joints, joint pain, stretchy skin, and abnormal scar formation. These can be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. EDS result from a mutation of some of more than 19 different genes. The specific gene affected determines the specific EDS. Some cases result from a new mutation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. Typically, these mutations result in defects in the structure or processing of the protein collagen. Diagnosis is often based on symptoms and confirmed with genetic testing or skin biopsy. However, people may initially be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome. No cure is known. Treatment is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints. While some disorders result in a normal life expectancy, those that affect blood vessels generally result in a shorter life expectancy. EDS affect at least one in 5,000 people globally. The prognosis depends on the specific disorder. Excess mobility was first described by Hippocrates in 400 BC. The syndromes are named after two physicians, Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France, who described them at the turn of the 20th century. This group of disorders affects connective tissues across the body, with symptoms most typically present in the joints, skin, and blood vessels. Effects may range from mildly loose joints to life-threatening cardiovascular complications. Due to the diversity of subtypes within the EDS family, symptoms may vary widely between individuals diagnosed with an EDS. Musculoskeletal symptoms include hyperflexible joints that are unstable and prone to sprain, dislocation, subluxation, and hyperextension. There can be an early onset of advanced osteoarthritis, chronic degenerative joint disease, swan-neck deformity of the fingers, and Boutonniere deformity of the fingers. Tearing of tendons or muscles may occur. Deformities of the spine, such as scoliosis (curvature of the spine), kyphosis (a thoracic hump), tethered spinal cord syndrome, and occipitoatlantoaxial hypermobility may also be present. There can also be myalgia (muscle pain) and arthralgia (joint pain), which may be severe and disabling. Trendelenburg's sign is often seen, which means that when standing on one leg, the pelvis drops on the other side. Osgood–Schlatter disease, a painful lump on the knee, is common as well. In infants, walking can be delayed (beyond 18 months of age), and bottom-shuffling instead of crawling occurs. The weak connective tissue causes fragile skin that tears and bruises easily and atrophic scars that look like cigarette paper. Redundant skin folds occur, especially on the eyelids. Redundant skin folds are areas of excess skin lying in folds. Other skin symptoms include molluscoid pseudotumors, especially on pressure points, petechiae, subcutaneous spheroids, livedo reticularis, and piezogenic papules are less common. In vascular EDS, skin can also be thin and translucent. Because it is often undiagnosed or misdiagnosed in childhood, some instances of EDS have been mischaracterized as child abuse. The pain associated with the disorders may be severe.