Presentation
The book presents detailed information for both basic scientists and for clinicians seeing patients. [books.google.com]
Due to the patient’s presentation, we felt that he was presenting with a threatened limb and the patient was emergently taken to the peripheral catheterization laboratory for angiography. [vasculardiseasemanagement.com]
In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). [dovepress.com]
E hlers-Danlos syndrome (EDS) is a hereditary collagen disease presenting primarily as dermatological and joint disorders. [cda-adc.ca]
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 [intelligentdental.com]
Entire Body System
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Pathologist
An encyclopaedic overview and analysis of sudden death in the young, this is a key text for pediatric and forensic pathologists, pediatricians, and lawyers and physicians involved in medicolegal cases. [books.google.com]
Sometimes, pathologists practice both anatomical and clinical pathology, a known as general pathology. [wikivisually.com]
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Goiter
E03.1 without goiter Synonyme : CH, neonatal hypothyroidism, fetal iodine deficiency disorder Argininosuccinate Lyase Mangel (ASL) ( 2 Files ) Name der Erkrankung: Argininosuccinate Lyase Deficiency ICD 10: E72.2 Synonyme: ASA deficiency, ASL deficiency [orphananesthesia.eu]
Musculoskeletal
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Macrocephaly
Syndrome, Type VIa, Formerly EDS6 EDS6A, FORMERLY 225400 Genetic Test Registry Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive Dermatosparaxis Ehlers-Danlos Syndrome, Dermatosparaxis Type EDS 7C EDS VIIC 225410 Genetic Test Registry MACS Syndrome Macrocephaly [ukgtn.nhs.uk]
Sprengel's deformity, Wallis Zieff Goldblatt syndrome ) knee ( Genu valgum, Genu varum ) other Arthrogryposis Skull and facial bones Carpenter syndrome - Craniodiaphyseal dysplasia - Craniosynostosis ( Scaphocephaly ) - Crouzon syndrome - Hypertelorism - Macrocephaly [wikidoc.org]
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Mild Joint Laxity
The absence of any evidence of the smaller fragment in either of the parent's DNA excluded recessive inheritance and also excluded the possibility of maternal somatic mosaicism suggested by the mother's mild joint laxity. [jmg.bmj.com]
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Long Arm
This term means that a person is tall and slender, with long arms, hands, fingers, legs, feet and toes. A Marfanoid body habitus occurs in a minority of EDS-H patients, but it does not appear to be generally associated with classic EDS. [forgottendiseases.org]
Eyes
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Blue Sclera
Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB Fragilitas Oculi With Joint Hyperextensibility BCS1 EDS6B 229200 Genetic Test [ukgtn.nhs.uk]
sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile skin (tearing of the skin), stretchy skin, easy bruising, joint hypermobility [uwcpdx.org]
Hyperextesible skin, gaping wounds, cigarette-paper scars, molluscoid pseudotumors, calcified subcutaneous nodules, bruises, hypermobile joints with dislocation, hernias, mitral valve prolapse, blue sclerae, Gorlin's sign (tongue reaches nose), absence [quizlet.com]
CUTIS hyperelastica Ehlers-Danlos syndrome with blue scleras, microcornea, and glaucoma. AMA Arch Ophthalmol 1953;49:220-1. 7. Pollack JS, Custer PL, Hart WM, Smith ME, Fitzpatrick MM. Ocular complications in Ehlers-Danlos syndrome type IV. [ijo.in]
Terms: Cutis Elastica Synonyms Brittle cornea syndrome Congenital anomaly of sclera Congenital kyphoscoliosis Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Cutis laxa, x-linked Disorder of copper metabolism Distal arthrogryposis [icdlist.com]
Skin
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Thin Skin
My family has a history of valve problems, hernias and intestinal ruptures etc, I have the thin skin visable veins, soft skin and the typical scarring of eds. [inspire.com]
skin Dominant C1S, C1R Peridontal, Type VIII Musculocontractural Type Craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, hypotonia, thin skin, easy bruising, atrophic scarring, joint hypermobility [uwcpdx.org]
Type Clinical Findings Inheritance Gene Defects Classical Skin and joint hypermobility Atrophic scars Easy bruising Autosomal dominant COL5A1 COL5A2 Hypermobility Joint hypermobility Pain Spontaneous dislocations Autosomal dominant Unknown Vascular Thin [rarediseasesindia.org]
skin 0000963 Showing of 33 Last updated: 3/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]
The type and severity of symptoms can vary between individuals with Ehlers-Danlos Syndrome, Dermatosparaxis Type, and may include: Presence of loose, sagging, elastic skin; abnormally-thin skin A tendency to bruise easily Permanent skin scarring Loose [dovemed.com]
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Excessive Wrinkled Skin
wrinkled skin of palms and soles Increased wrinkles of palms and soles Wrinkled palms and soles Wrinkled skin of hands and feet [ more ] 0007517 Poor wound healing 0001058 Premature loss of teeth Early tooth loss Loss of teeth Premature teeth loss Premature [rarediseases.info.nih.gov]
Psychiatrical
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Hysteria
The Münchausen syndrome or even hysteria have been used in several conclusions from physicians. The patient is led to doubt of his own mental health, and so is its family. [omicsonline.org]
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Impulsivity
2009), relying on the strengthening of proprioceptive function (orthesis, physical therapy, balneotherapy, occupational therapy, relaxation), psychotherapy of pains, hypnosis, respiratory rehabilitation, intrapulmonary percussive ventilation with impulsator [omicsonline.org]
Workup
(October 2018 editor’s note: I used to have another pre-diagnostic medical workup page linked from The Coalition Against Pediatric Pain here too, but it seems to have been deleted, sorry!) [ohtwist.com]
Treatment
In lack of diagnosis, these patients are also excluded from new forms of emerging treatments (orthesis, oxygen therapy, local proprioceptive pains treatments, adapted physical therapy...) and often victims of iatrogenia. [omicsonline.org]
Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity [books.google.com]
This may account for the delay in getting a proper diagnosis and treatment, as studies have repeatedly shown the medical community is not as educated on — and therefore much more likely to misdiagnose and disregard — health issues that impact women. [health.harvard.edu]
The information in this article should not be considered as professional medical advice, diagnosis or treatment. It is for informational purposes only and represents the author’s opinions alone. [chronicpainpartners.com]
Prognosis
Some individuals have mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, particularly dental surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve [wikidoc.org]
The prognosis with this type is poor. Sudden death can occur after visceral perforation or after the rupture of a large vessel, most commonly an abdominal and splenic vessel. [emedicine.medscape.com]
The earlier interventions are in place, the better a child’s prognosis is. [complexchild.org]
Prognosis in the Ehlers Danlos syndromes [ 7 ] Prognosis will vary with the type and the severity. Lifespan is usually normal, with the exception of the vascular type. [patient.info]
Etiology
[…] have cardiac abnormalities Mitral valve prolapse Aortic root dilation with occasional rupture Scoliosis Pes planus (flatfoot) Molluscoid pseudotumors (calcified hematomas) may be associated with scars Inheritance Autosomal dominant single-gene disorder Etiology [en.wikibooks.org]
Etiology The syndrome appears to be genetically heterogeneous. However, analysis of several patients has led to the identification of a potential gene locus on chromosome 12p13. [rarediseases.info.nih.gov]
Ongoing controversies regarding etiology, diagnosis, treatment Neurosurgical complications, including Chiari malformation, craniocervical instability and cervical instability, as well as occult tethered cord, have only recently been associated with Ehlers-Danlos [clinicaladvisor.com]
(Etiology) Ehlers-Danlos Syndrome, Dermatosparaxis Type is caused by mutation(s) in the ADAMTS2 gene: The ADAMTS2 gene codes for the enzyme called “disintegrin and metalloproteinase with thrombospondin motifs-2” or ADAMTS2 enzyme This enzyme catalyzes [dovemed.com]
The etiology is multifactorial, including infections, tobacco smoking and poor socio-economic factors [ 22, 23 ]. In pregnancy, the membranes surrounding the amniotic cavity correspond to the amnion and chorion. [hoajonline.com]
Epidemiology
A brief history of the disease is presented along with the epidemiology and characteristics of the 8 main phenotypes of the syndrome. [cda-adc.ca]
Epidemiology and Demographics The overall prevalence of all types of Ehlers-Danlos syndrome may be about 1 in 5,000 births worldwide. The prevalence of the six types differs dramatically. [wikidoc.org]
A major review of clinical and genetic features of vascular EDS with epidemiologic data. PubMed CrossRef Google Scholar 2. Germain DP, Herrera-Guzman Y: Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Genet 2004, 47 :1–9. [link.springer.com]
Research output : Contribution to journal › Article A multicentre study on epidemiology and prevention of needle stick injuries among students of nursing schools Veronesi, L., Giudice, L., Agodi, A., Arrigoni, C., Baldovin, T., Barchitta, M., Benedetti [moh-it.pure.elsevier.com]
Epidemiology Frequency The prevalence of Ehlers-Danlos syndrome (EDS) is reported to be 1 case in approximately 400,000 people, but mild or incomplete forms appear to be underdiagnosed and more common than other forms. [emedicine.medscape.com]
Pathophysiology
This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder. [books.google.com]
CCA is a rare condition, and there is limited understanding of its pathophysiology and treatment options. [acgcasereports.gi.org]
Reflections on the pathophysiology We estimate that the alteration in proprioception plays a large part in the clinical manifestation of EDS. [symbiosisonlinepublishing.com]
Pathophysiology: There are three different mechanisms by which EDS traits are produced 6. The first of these features is a deficiency of collagen-producing enzymes, such as lysyl-hydroxylase and procollagen peptidase. [rarediseasesindia.org]
武田憲文 ４） 和文総説「大動脈解離・大動脈瘤」 診断と治療 106(2):215-220, 2018（診断と治療社） 原弘典、武田憲文 【2016年】 １）英文総説 「Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes」Int Heart J. 2016;57(3):271-7. [square.umin.ac.jp]
Prevention
So, instead, I have spent the past eleven years attempting to help prevent others from having to replicate my experience. I simply wish to assist other EDS patients avoid some of the uncertainty and stress that I was forced to experience. [chronicpainpartners.com]
Ehlers-Danlos syndrome Department of Pedodontics and Preventive Dentistry, Dr. [jdrr.org]
Ehlers-Danlos Syndrome, Dermatosparaxis Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]
Dominant mutations in COL1A1 and COL1A2 can prevent cleavage and cause arthrochalasia, while recessive loss of the N -procollagen peptidase cause dermatosparaxis. (V) Collagen molecules self-assemble into heterotypic fibrils. [jci.org]
If you have vascular or regular EDS with severe symptoms that prevent you from working, you may be able to get disability. [disabilitysecrets.com]