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

Presentation Most types of EDS present with symptoms affecting skin and joints. However, many systems can be affected. [patient.info]

• Venous Insufficiency

  Rare arterial complications have been reported, but venous insufficiency is rarely described. [pubmed.ncbi.nlm.nih.gov]

• Mild Joint Laxity

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

• 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]

(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]

CCA is a rare condition, and there is limited understanding of its pathophysiology and treatment options. [acgcasereports.gi.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]

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]

[…] 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]

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]

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]

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]

Epidemiology Ehlers-Danlos syndrome demonstrates an equal prevalence amongst males and females of all racial and ethnic backgrounds. [7], [8] Combined prevalence of all EDS subtypes is about 1/5000 [7], [8], [9], [10] with hypermobility and classic types [jdrr.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]

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]

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]

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]