Several metal restorations were present on her primary teeth (Figure 1). [nature.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]

Ehlers-Danlos syndrome (EDS) is a hereditary collagen disease presenting primarily as dermatological and joint disorders. [cda-adc.ca]

Within the brain stem, a lacunar infarction was present in the pons. Inhomogeneous T2 hyperintensities were present in the pons, the lower part of the midbrain and the cerebellar white matter. [link.springer.com]

• Pain

  As you go through that process, remember you need to reach the goal of moving on. 3) Address pain control. Accept that you cannot take this journey on your own. You need to address your pain to have a chance of living as normal a life as you can. [chronicpainpartners.com]

  I have been pestering doctors for the past few years about my chronic and often disabling pain. [health.harvard.edu]

  The intense muscle pain, abdominal pain, neuropathic pain, migraines and fatigue caused by Ehlers-Danlos have been found to be significantly associated with psychiatric disorders and anxiety and mood disorders 6. [medicalmarijuanainc.com]

  He assured me my pain wasn’t in my head, but that if I don’t stop thinking about it, I’ll never get rid of it. I’m so immensely frustrated right now, and I’m so over it. TLDR: a pain clinic doctor told me to meditate to get rid of my pain. [reddit.com]

  hypnosis, respiratory rehabilitation, intrapulmonary percussive ventilation with impulsator HC percussionnaire of Forrest Morton Bird, local treatment of pain (Lidocaïne), electric stimulations (TENS). [omicsonline.org]

• Short Stature

  Hyperextensibility BCS1 EDS6B 229200 Genetic Test Registry Brittle Cornea Syndrome 2 BCS2 614170 Genetic Test Registry Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss EDSKMH 614557 Genetic Test Registry Ehlers-Danlos Syndrome With Short [ukgtn.nhs.uk]

  Most patients have short stature and orofacial characteristics such as micrognathia, gingival hyperplasia with varying degrees of hyperkeratosis, and agenesis or microdontia of multiple teeth, accompanied sometimes by increased sensitivity to infection.EtiologyThe [malacards.org]

  Common symptoms of pEDS include: periodontitis short stature hyperpigmented skin spots atrophic scars hyperextensible skin hyperflexible joints microdontia (smaller than regular teeth) gum overgrowth shrinking of gum ridges failure to develop permanent [ehlersdanlosnews.com]

  Most patients have short stature and orofacial characteristics such as micrognathia, gingival hyperplasia with varying degrees of hyperkeratosis, and agenesis or microdontia of multiple teeth, accompanied sometimes by increased sensitivity to infection [rarediseases.info.nih.gov]

• Falling

  Gingival ®brinoid deposits in Ehlers- Danlos syndrome J Oral Pathol 1987 Ein Fall von praÈpubertaÈrer Parodontitis Dtsch ZahnaÈrztl Z 1989 [semanticscholar.org]

  Our experience is based on an active database of 2212 patients which all fall under the Villefranche criteria. A great number of signs and symptoms have yet to be attributed to this syndrome. [symbiosisonlinepublishing.com]

  Collagen is the glue that holds the body together and when it's faulty, the body can literally fall apart. [sunshineandspoons.com]

  He gave history of easy bruising and tendency to fall and history of intestinal rupture 5 years ago for which he had undergone surgery. He was diagnosed as a case of Type IV Ehler-Danlos syndrome (EDS) with open angle glaucoma. [ijo.in]

  Age three, a minor fall resulted in a major laceration of his knee. The wound was closed with steri-strips but the scar was quite apparent and widened over time. [nursinginpractice.com]

• Asymptomatic

  It is not uncommon for affected persons to remain asymptomatic well into the 5th and 6th decades. This seems to be particularly true of men, because of their increased muscle mass. [clinicaladvisor.com]

  The patient was asymptomatic, yet returned 1 month later with the new complaint of a right-sided rushing sound. Repeat arteriography now showed a new right DCCF. [ajnr.org]

  There is a clinical spectrum ranging from asymptomatic joint hypermobility, through “non-syndromic” hypermobility with secondary manifestations, to hEDS. [ehlers-danlos.com]

  Asymptomatic, nonsyndromic joint hypermobility, hypermobility spectrum disorders, and Ehlers-Danlos syndrome (particularly, the hypermobile type) are the most common phenotypes evident in association with joint hypermobility. [41] One should not regard [emedicine.medscape.com]

  Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. [nejm.org]

• Severe Pain

  Studies have shown cannabis can help in managing the severe pain associated with the syndrome. [medicalmarijuanainc.com]

  It is painful, limiting and frustrating. Chronic, severe pain is common in EDS. My daughter describes it as layers of pain: there is the pain of bendy joints, slipping in and out. [complexchild.org]

• Intestinal Perforation

  perforation 0031368 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Palmoplantar cutis laxa Excessive wrinkled skin of palms and soles Increased wrinkles of palms and soles Wrinkled palms and soles Wrinkled [rarediseases.info.nih.gov]

  These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. [medlineplus.gov]

• Periodontitis

  C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome. [pubmed.ncbi.nlm.nih.gov]

  Introduction Periodontitis encompasses a group of conditions characterized by progressive destruction of connective tissue and tooth-supporting structures including the gingiva, periodontal ligament, and alveolar bone. [nature.com]

  The community periodontal index of treatment needs (CPITN) is a periodontal screening tool measuring periodontal pocket depths. CPITN grade 0 resembles healthy periodontal conditions. [gimjournal.org]

  Patients tend to have severe periodontal disease and fragile, easily bruised skin, especially on the lower legs. [forgottendiseases.org]

  Major criteria of periodontal EDS Early severe periodontitis + − − Lack of attached gingiva + − n.a. [mdpi.com]

• Spontaneous Rupture of Membranes

  Problems during delivery Due to the fragility of connective tissue, those with EDS are more prone to prelabour spontaneous rupture of membranes (SROM), including preterm SROM. [patient.info]

• Arthritis

  Long-term effects of EDS can include: chronic joint pain early onset arthritis failure of surgical wounds to heal properly increased skin infections due to improper healing premature rupture of membranes during pregnancy, and rupturing of the eyeball. [disabilitysecrets.com]

  The snapping of tendons or scar tissue over a prominence can also generate a loud snapping or popping sound, the common claim that cracking ones knuckles causes arthritis appears unsupported. [wikivisually.com]

  They can lead to severe, chronic pain and early-onset arthritis. Overly stretchy and fragile skin will also bruise easily and the syndrome causes wounds to split open easily and leave scars that widen over time. [medicalmarijuanainc.com]

  Arthritis, 4, 148. Hamonet, C., Gompel, A., Raffray, Y., Zeitoun, J.D., Delarue, M., Vlamynck, E., et al. (2014). les multiples douleurs du syndrome d'Ehlers-Danlos, description et proposition d'un protocole thérapeutique. Douleurs, 15 (6), 264-277. [omicsonline.org]

• Hyperlaxity

  The joint hyperlaxity and cutaneous hyperelasticity are variable. [malacards.org]

  Summary The authors present a case of Ehlers-Danlos’ syndrome in its classical form that due to articular and ligamentous hyperlaxity was accompanied by orthopedic complications and skeletal deformities of various types, pectus carinatum with secondary [archbronconeumol.org]

  They are commonly associated with joint hyperlaxity and dislocation. Involvement of the S2-S4 joints is responsible for the Alcock canal syndrome with pelvic pain worsened by sitting [ 21 ]. [hoajonline.com]

• Arthralgia

  […] bleeding Abnormality of the immune system Periodontitis Abnormality of the integument Bruising susceptibility Fragile skin Abnormality of the musculoskeletal system Inguinal hernia Joint hypermobility Scoliosis Umbilical hernia Constitutional symptom Arthralgia [ncbi.nlm.nih.gov]

  This can occur in association with joint noises, myofascial pain, arthralgia, and parafunctional habits. The fibrocartilagenous structure, supporting ligaments and the retrodiscal tissue are composed of mainly type I, III and V collagen. [jdrr.org]

• Contusion

  Danlos, H.A. (1908). un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (Xanthome juvénile pseudo-diabétique de MM. [omicsonline.org]

  Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvenile pseudodiabetique de MM Hallopeault Mace de Lepinari). Bull Soc Franc Dermatol Syph. 1908;19:70-72. Barabas AP. [vasculardiseasemanagement.com]

• Mild Joint Laxity

  Figure 3 Clinical features of proband 3 showing joint laxity. [jmg.bmj.com]

• Cutis Laxa

  laxa AR 14 16 ELN Cutis laxa, Supravalvular aortic stenosis AD 78 113 FBLN5 Cutis laxa, Macular degeneration, age-related AD/AR 13 22 FBN1 MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia AD 1465 2679 FBN2 Congenital contractural [blueprintgenetics.com]

  Ehlers Cutis laxa, neigung zu Haemorragien in der haut, lockerung mehrerer artikulationen Derm. Z, 8 (1901), pp. 173 [2.] M. Danlos Un cas de cutis laxa avec tumeurs par contusión chronique des coudes et des genoux Butt. [archbronconeumol.org]

  Laxa, And Scoliosis Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis 613075 Genetic Test Registry Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like SCD-EDS 612350 Genetic Test Registry [ukgtn.nhs.uk]

  Cutis laxa. Superficially, the stretchy skin found in most forms of EDS may be confused with cutis laxa type 1 and type 2, as stretchy skin is also a feature of these conditions. [forgottendiseases.org]

  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]

• 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]

  Thin, translucent skin (especially noticeable on the chest/abdomen) Easy bruising (spontaneous or with minimal trauma) Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes) Acrogeria (an aged appearance to the extremities [uwcpdx.org]

  […] dislocations Autosomal dominant Unknown Vascular Thin skin Arterial or uterine rupture Bruising Small joint hyperextensibility Autosomal dominant COL3A1 Kyphoscoliosis Hypotonia Joint laxity Congenital scoliosis Ocular fragility Autosomal recessive Lysyl-hydroxylase [rarediseasesindia.org]

  […] loss [ more ] 0006480 Soft skin 0000977 Thin skin 0000963 Showing of 33 | Last updated: 2/1/2021 Find a Specialist Find a Specialist 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]

• Delayed Wound Healing

  The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. [jdrr.org]

  Nevertheless, some complications are reported including abnormal fetal presentations, increased rate of suture dehiscence and delayed wound healing, uterus atonia, hemorrhage, pelvic prolapse, deep venous thrombosis and coccyx dislocation [ 17, 19, 27 [hoajonline.com]

  healing resulting in elongated scarring (cigarette paper scars) Joint hypermobility Increased propensity for joint subluxations/disclocations Muscle weakness Delayed motor development Easy bruising Fatigue Frequent clumsiness Gait defects Frequent falls [physio-pedia.com]

• 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]

• 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]

• Clumsiness

  Clues to the reason for my clumsiness In more recent years, my body was besieged by an incessant, widespread, bone-deep aching pain. [health.harvard.edu]

  I was always just that clumsy, accident prone kid.” 4. “Most people wouldn’t assume I’ve had multiple shoulder surgeries, including a total reconstruction, and countless spinal and nerve-related procedures to control pain. [themighty.com]

  skin Tissue fragility Poor wound healing resulting in elongated scarring (cigarette paper scars) Joint hypermobility Increased propensity for joint subluxations/disclocations Muscle weakness Delayed motor development Easy bruising Fatigue Frequent clumsiness [physio-pedia.com]

(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]

Honeybee propolis extract in periodontal treatment: a clinical and microbiological study of propolis in periodontal treatment. Coutinho A. Indian J Dent Res. 2012 Mar-Apr;23(2):294. 16. [passeportsante.net]

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]

She started progressively on a treatment with Modopar (62,5mg q3d). [symbiosisonlinepublishing.com]

It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [ehlersdanlosnews.com]

The surprising discovery accomplished by exome sequencing research is opening the door to learn how the disease progresses, a necessary step for considering treatment. Read the details of the research in the American Journal of Human Genetics. [uwcpdx.org]

The prognosis depends on the specific type. In the majority of patients with classic EDS, the disease is caused by the mutation in one or more a dozen different genes. The specific gene determines the type of EDS. [creative-biolabs.com]

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]

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]

[…] 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]

(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]

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 and epidemiology of preterm premature rupture of the membranes. Clin Perinatol. 2001; 28 :721-34. | Article | PubMed Mercer BM. Preterm premature rupture of the membranes. [hoajonline.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Global epidemiology of periodontal diseases: an overview. Albandar JM, Rams TE. Periodontol 2000. 2002;29:7-10. 3. Prevalence of Periodontitis in Adults in the United States: 2009 and 2010. Eke PI, Dye BA, Wei L, et al. [passeportsante.net]

Epidemiology and Diagnosis The prevalence of the condition varies between 1:10,0005 and 1:150,0006 depending on the author. [cda-adc.ca]

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]

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]

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]

Ehlers-Danlos Syndrome, Dermatosparaxis Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]

Strengthening the prevention of periodontal disease : the WHO approach. P.E. Petersen, H. Ogawa. J Periodontol – December 2005. 9. Preventing periodontal disease, JADA, Vol 132, Septembre 2001. 10. The action of thymol on oral bacteria. Shapiro S. [passeportsante.net]

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]

How can Ehlers-Danos syndrome be prevented? Ehlers-Danlos syndrome is a hereditary disorder. Severe musculoskeletal manifestations may be prevented by avoiding high-impact physical exercise. [clinicaladvisor.com]