出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/12/14 21:59:41」(JST)[Wiki en表示]
|Classification and external resources|
The collagen fibril and EDS. (a) Normal collagen fibrils are of uniform size and spacing. Fibrils from a patient with dermatosparaxis (b) show dramatic alterations in fibril morphology with severe effects on tensile strength of connective tissues. Patients with classical EDS (c) show composite fibrils. Fibrils from a TNX-deficient patient (d) are uniform in size and no composite fibrils are seen. TNX-null (e) fibrils are less densely packed and not as well aligned to neighboring fibrils.
|ICD-10||Q79.6 (ILDS Q82.817)|
Ehlers–Danlos syndrome (EDS) (also known as Cutis hyperelastica) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (Type I or III). The collagen in connective tissue helps tissues resist deformation. Collagen plays a very significant role in the skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen leads to increased elasticity within these structures. Depending on the individual, the severity of the mutation can vary from mild to life-threatening. There is no cure, and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. Physical therapy, bracing, and corrective surgery may help with the frequent injuries and pain that tend to develop in certain types of EDS, although extra caution and special practices are advised to prevent permanent damage.
The syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century.
In the past, there were 10 recognized types of Ehlers–Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names. These six major types are listed here. Other types of the condition may exist, but they have been reported only in single families or are not well characterized. Except for hypermobility, some of the specific mutations involved have been identified and they can be precisely identified by genetic testing; this is valuable due to a great deal of variation in individual cases. However, negative genetic test results do not rule out the diagnosis, since not all of the mutations have been discovered; therefore the clinical presentation is very important. Although the following classifications are well defined, it is rare for a case to fit neatly in a single category, and cross-over symptoms lead to under-diagnosis or mis-diagnosis. Therefore, patients should not rely on the "fact" of having a certain type of EDS if cross-over symptoms are evident because of possibly life-threatening symptoms. For example, it is possible for an individual with Classical EDS to exhibit symptoms of Hypermobility or Vascular EDS. In order of prevalence in the population, the classifications are:
|Hypermobility||type 3||Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant or autosomal recessive mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant. Joint hypermobility is the hallmark of this type, with less severe skin manifestations. Joint instability and chronic musculoskeletal pain are particuarly prominent in this type.||130020||COL3A1, TNXB|
|Classical||types 1 & 2||Affects approximately 1 in 20,000 to 50,000 people. It is caused by autosomal dominant mechanism and affects type-V collagen, as well as type I. Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement.||130000, 130010||COL5A1, COL5A2, COL1A1|
|Vascular||type 4||Is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately 1 in 100,000 to 250,000 people. The vascular type is considered one of the more serious forms of Ehlers–Danlos syndrome because blood vessels and organs are fragile and prone to tearing (rupture). Many patients with EDS type 4 express a characteristic facial appearance (large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears), have a small stature with a slim build, and typically have thin, pale, translucent skin (veins can usually be seen on the chest and abdomen) with very easy bruising and propensity to develop ecchymoses. About one in four people with vascular type EDS develop a significant health problem by age 20 and more than 80 percent develop life-threatening complications by age 40.||130050||COL3A1|
|Kyphoscoliosis||type 6||Is an autosomal recessive defect due to deficiency of an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases reported. The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness.||225400, 229200||PLOD1|
|Arthrochalasis||types 7A & B||Is also very rare, with about 30 cases reported. It affects type-I collagen. The arthrochalasia type is characterised by very loose joints and dislocations involving both hips.||130060||COL1A1, COL1A2|
|Dermatosparaxis||type 7C||Also very rare, with about 10 cases reported. The dermatosparaxis type is characterised by extremely fragile and sagging skin.||225410||ADAMTS2|
"The large number of distinct types of the Ehlers–Danlos syndrome that have already been identified indicates great heterogeneity, but clearly that heterogeneity is not exhausted by the present classification." Forms of EDS within this category may present with soft, mildly stretchable skin, shortened bones, chronic diarrhea, joint hypermobility and dislocation, bladder rupture, or poor wound healing. Inheritance patterns within this group include X-linked recessive, autosomal dominant, and autosomal recessive. Examples of types of related syndromes other than those above reported in the medical literature include:
- 305200 – Type 5
- 130080 – Type 8 – unspecified gene, locus 12p13
- 225310 – Type 10 – unspecified gene, locus 2q34
- 608763 – Beasley–Cohen type
- 130070 – Progeroid form – B4GALT7
- 606408 – Due to Tenascin-X deficiency – TNXB
- 130090 – Type unspecified
- 601776 – D4ST1-Deficient Ehlers–Danlos syndrome (Adducted Thumb-Clubfoot Syndrome) CHST14
Signs and symptoms
Signs vary widely based on which type of EDS the patient has. In each case, however, the signs are ultimately due to faulty or reduced amounts of collagen. EDS typically affects the joints, skin, and blood vessels. Following is a list of major signs and symptoms.
- Hyper-flexible joints (It is possible to be very flexible or have "double joints", however, this is not the same as EDS.)
- Unstable joints that are prone to: sprain, dislocation, subluxation and hyperextension
- Early onset of advanced osteoarthritis
- Chronic degenerative joint disease
- Swan neck deformity of the fingers
- Muscle fatigue that increases with use
- Weak muscle tone (hypotonia) in infancy, which can delay the development of gross motor skills such as sitting, standing, and walking
- Osteopenia (low bone density)
- Stretchy ligaments and tendons
- Tearing of tendons or muscles
- Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility
- Myalgia (muscle pain) and arthralgia (joint pain), which may be severe
- Stretchy skin with a velvety texture
- Fragile skin that tears easily
- Easy bruising, which can be severe
- Abnormal wound healing and scar formation, leading to widened atrophic scars
- Redundant skin folds
- Molluscoid pseudotumors, especially on pressure points
- Subcutaneous spheroids
- Fatty growths on forearms or shins
- Fragile blood vessels with tendency towards aneurysm including abdominal aortic aneurysm
- Life-threatening carotid-cavernous fistula
- Unpredictable rupture of medium-sized arteries, especially cerebral arterial rupture
- Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse)
- Postural Orthostatic Tachycardia Syndrome P.O.T.S.
- Orthostatic intolerance, theoretically caused by excessive distension of veins (upright posture causes blood pooling in lower body, leading to a 44-60% decrease in cerebral blood flow velocity
- Dilation and/or rupture of ascending aorta
- Cystic medial necrosis
- Varicose veins
- Vascular skin conditions: Raynaud's phenomenon, Livedo reticularis
Other manifestations or complications:
- High and narrow palate, resulting in dental crowding
- Early-onset periodontitis
- Nearsightedness, which may be extreme
- Blue sclera
- Retinal detachment
- Flat feet
- Digestive disorders: (gastritis, gastroesophageal reflux disease, irritable bowel syndrome, diverticulitis, gastroparesis (partial paralysis of the stomach))
- Hiatial hernia
- Anal prolapse
- Vulnerability to chest and sinus infections
- Collapsed lung (pneumothorax)
- Intestinal/uterine fragility or spontaneous rupture
- Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)
- Anxiety disorders, depression, psychosocial dysfunction
- Insensitivity to local anesthetics.
- Arnold–Chiari malformation (brain disorder)
- Cranial instability
- Problems with proprioception including dysmetria
- Talipes equinovarus (club foot), especially in the Vascular type
- Platelet aggregation failure (platelets do not clump together properly)
- Bleeding diathesis
- Cerebrospinal fluid leak (rent in the meningeal tissues: dura, arachnoid)
- Temporomandibular joint syndrome
- Surgical complications and intraoperative problems due to tissue fragility
- Pregnancy complications: increased pain, mild to moderate peripartum bleeding, cervical insufficienty, uterine tearing, or premature rupture of membranes.
Because it is often undiagnosed or misdiagnosed in childhood, some instances of Ehlers–Danlos syndrome have been mischaracterized as child abuse. The pain associated with this condition is a serious complication.
Mutations in the following can cause Ehlers–Danlos syndrome:
- Fibrous proteins: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, and TNXB
- Enzymes: ADAMTS2, PLOD1, B4GALT7
Mutations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue throughout the body. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder.
Inheritance patterns depend on the type of Ehlers–Danlos syndrome. Most forms of the condition are inherited in an autosomal dominant pattern, which means only one of the two copies of the gene in question must be altered to cause the disorder. The minority are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected by the condition. It can also be an individual (de novo or "sporadic") mutation. Please refer to the summary for each type of Ehlers–Danlos syndrome for a discussion of its inheritance pattern.
A diagnosis can be made by an evaluation of medical history and clinical observation. The Beighton scale is widely used to assess the degree of joint hypermobility. Both DNA and biochemical studies can be used to help identify affected individuals. Diagnostic tests include: collagen gene mutation testing, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity. However, these tests are not able to confirm all cases, especially in instances of an unmapped mutation, and so clinical evaluation by a geneticist remains essential. If there are multiple affected individuals in a family, it may be possible to perform prenatal diagnosis using a DNA information technique known as a linkage study.
There are several disorders that share some characteristics with Ehlers–Danlos syndrome. For example, in cutis laxa the skin is loose, hanging, and wrinkled. In EDS, the skin can be pulled away from the body but is elastic and returns to normal when let go. In Marfan syndrome, the joints are very mobile and similar cardiovascular complications occur. People with EDS tend to have a "Marfanoid" appearance (e.g. tall, skinny, long arms and legs, "spidery" fingers). In the past, Menkes disease, a copper metabolism disorder, was thought to be a form of Ehlers–Danlos syndrome. It is not uncommon for patients to be misdiagnosed with fibromyalgia or a variety of disorders that can mimic EDS symptoms before a correct diagnosis is made. Because of these similar disorders, and complications that can arise from an unmonitored case of EDS, a correct diagnosis is very important.
There is no cure for Ehlers Danlos Syndrome. Treatment is palliative. Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing, casting) may be helpful. Orthopedic instruments are helpful for the prevention of further joint damage, especially for long distances, although it is advised that individuals not become dependent on them until there are no other options for mobility. One should avoid activities that cause the joint to lock or overextend.
A physician may prescribe bracing or casting to stabilize joints. Physicians may also consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints.  There are different types of physiotherapy. Aquatic therapy promotes muscular development and coordination. With manual therapy, the joint will be gently mobilized within the range of motion and/or manipulations. Electrotherapy like transcutaneous electrical nerve stimulation reduces local muskuloskeletal pain. If conservative therapy is not helpful, surgical repair of joints may be necessary at some time. Medication to decrease pain or manage cardiac, digestive, or other related conditions may be prescribed. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C). Special precautions are often taken by medical care workers because of the sheer amount of complications that tend to arise in EDS patients. In Vascular EDS, signs of chest or abdominal pain are to be considered trauma situations.
In general, medical intervention is limited to symptomatic therapy. Prior to pregnancy, patients with EDS should have genetic counseling. Children with EDS should be provided with information about the disorder, so they can understand why contact sports and certain other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause early degeneration of the joints. Patients may find it hard to cope with the drawbacks of the disease. In this case emotional support and behavioural and psychological therapy can be useful. Support groups are found to be immensely helpful for patients dealing with major lifestyle changes and poor health. Family members, teachers and friends should be provided with information about EDS so they can accept and assist the child as necessary. Despite all these different types of conservative therapy, except bracing, results show that conservative therapy is ineffective in contrast to midcarpal instability in normal patients. L. Rombaut showed that in almost 40% of the cases, conservative therapy has a neutral or even a negative outcome. Thereby has to be noted that conservative therapy may be unsuccessful in controlling instability in the longer term.
The instability of joints, leading to (sub)luxations and joint pain, in patients with Ehlers–Danlos syndrome will often lead to surgical interventions. Instability of almost all joints have been reported, but the highest incidence were found in the lower- and upper extremities, with the wrist, fingers, shoulder, knee, hip and ankle. Often used surgical possibilties are joint debridement, tendon replacements, capsulorraphy and arthroplasty. Studies shown that the effect of the surgery (degree of stabilization, pain reduction, satisfaction) were improved, but not led to an optimal result, in fact, both patient and surgeon were often disappointed with the results. The consensus is that conservative treatment treatment has preference above surgery. Next to the standard risks of surgery, patients with Ehlers–Danlos syndrome have extra risks of complications due to the disease. 3 basic problems due to EDS arise: the strength of the tissues is decreased, which makes the tissue less suitable for surgery. Second, the fragilty of the bloodvessels can cause problems during the surgery and third, woundhealing is often delayed or incomplete. Studies shown that local anasthaetics, arterial catheters and central venous catheters cause a higher risk in haematoma formation in patients with Ehler-Danlos syndrome, literature also suggests that Ehlers-Danlos patients show a resistance to local anasthaetics. Surgery with Ehler-Danlos patients requires careful tissue handling, a longer immobilization afterwards than by normal immobilization and operations under general anaesthesia. Due to the fact that local anasthetics have less effect, k-wires can’t be removed after 6 weeks and has to be prevented.
Problems and surgery in the hand
The most common complaints of the wrists are pain, feeling of joint instability, clicks, swelling, and loss of grip strength. Wrist complaints are most common in EDS type III patients and due to these problems a lot of EDS type III patients are unable to work and receive worker's compensation at a young age. These complaints are being caused by a severe midcarpal instability.
Normally, the proximal carpal row flexes in radial deviation and extends in ulnar deviation. With palmar midcarpal instability the proximal carpal row remains flexed and the distal carpal row subluxates palmarly during ulnar deviation. During maximum ulnar deviation the capitate reduces from its volarly subluxated position and the proximal carpal row suddenly shifts into extension.  To remedy this problem, arthrodesis and capsular tightening are an option. There are two kinds of arthrodesis to remedy this particular instability: 4-corner arthrodesis and radiolunate fusion. With 4-corner arthrodesis four bones in the carpus (the capitate,lunate,triquetrum and hamate) will be fused, so ulnar deviation and ulnar-sided wrist pain have been eliminated. The effect of this operation has not been clearly investigated, so there can not be drawn a clear conclusion about the results of the operation. With radiolunate fusion the proximal radius and lunate will be anchored. Study shows that this results in elimination of painfull motion, stabilization of the wrist and rearrangement of the carpus. 2 different techniques are used to tighten the capsulars in the joints of the wrist. The volar capsular tightening is used by insufficiency of the radiocapitate ligament, which was shown by studies as one of the major causes of wrist instability. The technique consists of tightening of the ligament and therefore stabilizing the lunate and stopping the capitate of passivly displacing.  Dorsal capsular tightening is used to stabilise the scapholunate joint, a frequently diagnosed pattern of carpal instability. The results of this technique showed improvements in the scapholunate angle and scapholunate gap and a satisfying outcome for the patients.
The outlook for individuals with EDS depends on the type of EDS with which they have been diagnosed. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes on an individual basis. Some individuals have negligible symptoms while others are severely restricted in their daily life. Extreme joint instability, chronic musculoskeletal pain, degenerative joint disease, frequent injuries, and spinal deformities may limit a person's mobility. Severe spinal deformities may affect breathing. In the case of extreme joint instability, dislocations may result from simple tasks such as rolling over in bed or turning a doorknob. Secondary conditions such as autonomic dysfunction or cardiovascular problems, occurring in any type, can affect prognosis and quality of life. Severe mobility-related disability is seen more often in Hypermobility-type than in Classical-type or Vascular-type.
Although all types are potentially life-threatening, the majority of individuals will have a normal lifespan. However, those with blood vessel fragility have a high risk of fatal complications. Arterial rupture is the most common cause of sudden death in EDS. Spontaneous arterial rupture most often occurs in the second or third decade, but can occur at any time. The average life-expectancy for Vascular EDS is 48 years.
EDS is a lifelong condition. Affected individuals may face social obstacles related to their disease on a daily basis. Some people with EDS have reported living with fears of significant and painful ruptures, their condition worsening, becoming unemployed due to physical and emotional burdens, and social stigmatization in general.
Ehlers–Danlos syndrome is an inherited disorder estimated to occur in about 1 in 5000 births worldwide. Initially, prevalence estimates ranged from 1 in 250,000 to 1 in 500,000 people, but these estimates were soon found to be vastly inaccurate as the disorder received further study and medical professionals became more adept at accurately diagnosing EDS. In fact, many experts now believe that Ehlers–Danlos syndrome may be far more common than the currently accepted estimate due to the wide range of severities in which the disorder presents. However, the prevalence of the six types differs dramatically. The most commonly occurring type is the hypermobility type, followed by the classical type. The other types of Ehlers–Danlos syndrome are very rare. For example, fewer than 10 infants and children with the dermatosparaxis type have been described worldwide. Ehlers–Danlos affects both males and females of all racial and ethnic backgrounds, although some types are more common among certain groups than others.
Society and culture
- In the 19th century, there were several sideshow performers billed variously as The Elastic Skin Man, The India Rubber Man and Frog Boy. They included such well known individuals (in their time) as Felix Wehrle, James Morris and Avery Childs.
- Several current celebrities have EDS:
- Actress Cherylee Houston has type 3 EDS and uses a wheelchair; she made history by becoming Coronation Street's first full-time disabled actress.
- The condition may have contributed to the virtuoso violinist Niccolò Paganini's skill as he was able to play wider fingerings than the normal violinist.
- Eric the Midget, a member of Howard Stern's Wack Pack has Ehlers–Danlos Syndrome Type VII.
- Adult film star Mandy Morbid has discussed the impact EDS has on her mobility and her life.
- Rei Haycraft, lead singer for the hard rock band, Raimee, artist, and illustrator of the novel The Last Judges.
- The condition is mentioned in the song "Dorsal Horn Concerto" by the British comedy band the Amateur Transplants.
- The condition has been mentioned in many television shows, including:
- CSI New York in the first season episode, "Blood, Sweat and Tears."
- FOX series Bones in the season 4 episode "The Perfect Pieces in the Purple Pond."
- House in the episodes "House's Head" (Season 4, Episode 15) and "The Dig (House)" (Season 7, Episode 18).
- The Law & Order episode "Dignity" (Season 20, Episode 5). In the episode, a third-trimester fetus is diagnosed with the condition and is slated for abortion; shortly later, the doctor who is due to perform the abortion is murdered in church.
- Royal Pains episode After the Fireworks
- The subject of the Season 7 premiere of the A&E series Intervention, Linda, claims to have EDS.
In other animals
Ehlers–Danlos-like syndromes have been shown to be hereditary in Himalayan cats, some domestic shorthair cats, and in certain breeds of cattle. It is seen as a sporadic condition in domestic dogs. Degenerative suspensory ligament desmitis (DSLD) is a similar condition seen in many breeds of horses. Though it was originally notated in the Peruvian Paso and thought to be a condition of overwork and older age, the disease is being recognized in all age groups and all activity levels. It has even been noted in newborn foals. The latest research has led to the renaming of the disease as Equine Systemic Proteoglycan Accumulation, after the possible systemic and hereditary components now being delineated by the University of Georgia.
- Abdominal aortic aneurism
- Arnold-Chiari malformation
- Joint dislocation
- Dural ectasia
- Gorlin sign
- Marfan syndrome
- mitral valve prolapse
- Postural orthostatic tachycardia syndrome
- Tethered spinal cord syndrome
- Tricuspid regurgitation
- Wrinkly skin syndrome
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- The Press Enterprise, Redlands mother stung by untrue suspicions presses for accountability in child abuse inquiries, 2008-04-03
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- Kimberly Kane, "Zak Loves Mandy, And They'll Keep Making Art and Porn Until One of Them Dies", Vice, Oct 16 2012
- "Intervention". www.aetv.com. http://www.aetv.com/intervention/episode-guide/season-7/linda-100#100. Retrieved 24 November 2012.
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- Ehlers–Danlos Syndrome, Classic Type. Includes: Ehlers–Danlos Syndrome Type I, Ehlers–Danlos Syndrome Type II
- University of Washington Medicine, Orthopaedics and Sports Medicine Multi-page explanation of EDS, including symptoms, genetics, diagnosis, and treatment
- National Institute of Health on Hypermobility EDS
- GeneReviews/NCBI/NIH/UW entry on Ehlers–Danlos Syndrome Type IV
- eds at NIH/UW GeneTests
- Joint & Bone – Ehlers–Danlos/Joint Hypermobility Syndrome – Proprioception
- Ehlers–Danlos National Foundation
- Hypermobile – A blog about Ehlers Danlos Syndrome The lack of clinical distinction between the hypermobility type of Ehlers–Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome)
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- Winters KA, Jiang Z, Xu W, Li S, Ammous Z, Jayakar P, Wierenga KJ.SourceCollege of Medicine, University of Oklahoma, Oklahoma City, Oklahoma.
- American journal of medical genetics. Part A.Am J Med Genet A.2012 Nov;158A(11):2935-40. doi: 10.1002/ajmg.a.35613. Epub 2012 Sep 14.
- We report on a 16-year-old female originally diagnosed with Marden-Walker syndrome due to features such as facial dysmorphism, several musculoskeletal anomalies, and atrial septal defect in addition to hypoplasia of the inferior vermis with normal-sized cerebellum and absence of the septum pellucidu
- PMID 22987394
- Spontaneous Brachial Pseudo-aneurysm in a 12-year-old with Kyphoscoliosis-type Ehlers-Danlos Syndrome.
- Gok E, Goksel OS, Alpagut U, Dayıoglu E.SourceDepartment of Cardiovascular Surgery, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. Electronic address: firstname.lastname@example.org.
- European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery.Eur J Vasc Endovasc Surg.2012 Nov;44(5):482-4. doi: 10.1016/j.ejvs.2012.08.004. Epub 2012 Sep 14.
- The Ehlers-Danlos Syndrome (EDS) is a rare connective tissue disorder characterised by fragility of the soft connective tissues and widespread manifestations in skin, ligaments, joints, blood vessels and internal organs. We report a case of a 12-year-old boy, previously diagnosed with kyphoscoliosis
- PMID 22981642
- Dental Management Associated with Eruption Disorders in a Patient with Ehlers-Danlos Syndrome : A Case Report
- JIN Dallae,KIM Yoo-Jun,JANG Ki-Taeg,LEE Hyeon-Heon
- 障害者歯科 31(3), 528, 2010-09-30
- NAID 10026706473
- 亜鉛トランスポーターSlc39a13/Zip13--結合組織発生における役割とヒト遺伝性疾患への関与 (特集 亜鉛酵素・トランスポーター研究の最前線)
- 深田 俊幸
- Biomedical research on trace elements 21(1), 17-24, 2010
- NAID 40017142311
- The Ehlers-Danlos National Foundation provides information about Ehlers-Danlos Syndrome and support to people with EDS and related disorders. ... Public Website Access Access to this website is freely open to the public. For ...
- Ehlers Danlos Syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. Ehlers-Danlos Syndrome (EDS) is a group of ...
- The collagen fibril and EDS. (a) Normal collagen fibrils are of uniform size and spacing. Fibrils from a patient with dermatosparaxis (b) show dramatic alterations in fibril morphology with severe effects on tensile strength of connective ...
- Ehlers-Danlos症候群 皮膚脆弱型
- Ehlers-Danlos症候群 古典型
- Ehlers-Danlos症候群 後側彎型
- Ehlers-Danlos症候群 血管型
- Ehlers-Danlos症候群 間接弛緩型
- Ehlers-Danlos症候群 過可動型
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome