Symptoma

Ehlers-Danlos Syndrome Kyphoscoliotic Type 1

Abnormal wound healing and joint laxity are present in many EDS types. [ncbi.nlm.nih.gov]

At presentation, imaging studies revealed multiple scattered cavitary lesions in both lungs. On separate occasions large parenchymal cysts ensued and subsequently regressed. [researchers.mq.edu.au]

Sponsored by www.bodysupportstore.com TOPIC: “Vascular Ehlers-Danlos Syndrome / EDS type IV” PRESENTER : Dr. Peter Byers About our speaker: Dr. [chronicpainpartners.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]

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

  • Marfanoid Habitus

    Other findings may include: marfanoid habitus; microcornea; and radiologically considerable osteopenia. Kyphoscoliosis Type EDS is the result of a deficient lysyl hydroxylase (PLOD). Autosomal recessive inheritance. [ehlersdanlos.ca]

    A marfanoid habitus is often striking. Thoracic scoliosis is common in the neonate. The kyphoscoliosis appears during infancy and becomes moderate to severe in childhood. [ncbi.nlm.nih.gov]

    Hyperelastic skin in a person with cEDS Translucent skin in Vascular EDS (VEDS) Atrophic scar found in cEDS, clEDS, Dermatosparaxis, and some other types "Marfanoid habitus" (resembling Marfans Syndrome) long slender fingers of Kyphoscoliosis Type EDS [me-pedia.org]

    Marfanoid habitus. Talipes equinovarus. Refractive errors (myopia, hypermetropia). Skin fragility (easy bruising, friable skin, poor wound healing), widened atrophic scarring. Scleral and ocular fragility/rupture. Microcornea. Facial dysmorphology. [patient.info]

  • Easy Bruising

    Tissue fragility including atrophic scars and easy bruising may be seen. Spontaneous arterial rupture can easily occur. Other findings may include: marfanoid habitus; microcornea; and radiologically considerable osteopenia. [ehlersdanlos.ca]

    Easy bruising is common. Joint hypermobility is the primary clinical manifestation. [nature.com]

    Signs and Symptoms of Vascular EDS The signs and symptoms of vascular EDS vary by patient; however, easy bruising, even after sustaining only minor trauma, is a common finding. 2,3 Patients with this condition may have soft skin that appears thin and [raredr.com]

    bruising and hemorrhage and impaired wound healing in affected individuals. [dog.org]

    They do some good but don’t keep the joints in place completely.” 9. “ Easy bruising. I leaned against furniture while rearranging my basement. Next day my legs looked like this. [themighty.com]

  • Pneumonia

    Adults with severe kyphoscoliosis are at risk for complications from restrictive lung disease, recurrent pneumonia, and cardiac failure. Diagnosis/testing. [ncbi.nlm.nih.gov]

    Patients with severe kyphoscoliosis are at risk for complications such as respiratory compromise, recurrent pneumonia, and even cardiac failure. [healio.com]

  • Muscle Hypotonia

    Kyphoscoliosis Type Generalized joint laxity and severe muscle hypotonia at birth are seen in this type of EDS. Muscular hypotonia can be very pronounced and leads to delayed gross motor development. [ehlersdanlos.ca]

    Major criteria are: Short stature (progressive in childhood); Muscle hypotonia (ranging from severe congenital, to mild later-onset); and Bowing of limbs. [ehlers-danlos.com]

    Myopathic type is characterized by muscle hypotonia, muscle atrophy, joint contractures and hypermobility of distal joints. Periodontal type is characterized by periodontitis, lack of attached gingival and pretibial plaques. [xpertdox.com]

    hypotonia and delayed motor development. [genecards.org]

    Diagnosis requires congenital muscle hypotonia and congenital or early-onset kyphoscoliosis, plus either GJH or three minor criteria. Confirmatory testing is needed for a final diagnosis. Major criteria Congenital muscle hypotonia. [patient.info]

  • Blue Sclera

    Keratoconus, blue sclerae, dislocated lens, retinal detachment or angoid streaks were not observed. Conclusions: Ocular manifestations of EDS were mainly dry eye syndrome, myopia, strabism and hyperextensible eye lids. [dog.org]

    Like EDS patients and EDS-K patients in particular, they may also have blue sclerae, joint hypermobility, hyperelastic skin, and hearing loss. Laboratory testing can distinguish EDS-K from BCS. Cutis laxa. [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]

    A subset of patients may develop Brittle Cornea Syndrome characterized by thin cornea, progressive keratoglobus, and blue sclerae. [xpertdox.com]

    sclerae, high myopia, and keratoconus. [me-pedia.org]

  • Bluish Sclerae

    Bluish sclerae are a common feature. High myopia is common. Many individuals have microcornea, although its clinical significance is unclear. Glaucoma and retinal detachment also occur. [ncbi.nlm.nih.gov]

    The spondylocheirodyplastic form of EDS is characterized by hyperextensible thin skin, easy bruising, hypermobility of the small joints with a tendency to contractures, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of [nature.com]

Individuals with aortic dilation may require treatment with beta blockers to prevent further expansion. [ncbi.nlm.nih.gov]

With regard to the lower limbs, a choice between conservative treatment vs. surgical treatment is an important step in the treatment process. [f1000research.com]

Early recognition and treatment of complications There is no specific treatment for Ehlers-Danlos syndrome. Trauma should be minimized. Protective clothing and padding may help. If surgery is done, hemostasis must be meticulous. [merckmanuals.com]

[…] disability, scoliosis, kyphosis, lordosis, intestinal failure and many more diagnoses 34 to be exact, but I need your help see with my rare condition EDS it causes a lot of medical issues which needs me to have surgeries, specialized medications and treatments [gofundme.com]

Each specific treatment protocol is individually designed and specialized for the affected individual in order to meet the needs of that specific patient. [physio-pedia.com]

Causes - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis Prevention - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis Diagnosis - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis Prognosis - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis EDS [checkorphan.org]

Prognosis The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy in all other types is normal. [ehlersdanlos.ca]

The best treatment depends on the prognosis and current situation of the child. [f1000research.com]

It affects about 1 in 5,000 people globally & the disease course, features and prognosis depend on the specific disorder. Association of excess mobility with the disease was first described by Hippocrates in 400 BC. [xpertdox.com]

[…] 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]

The initial chapters discuss surgical anatomy of hernias, incidence and etiology, diagnosis and anaesthesia. The following sections are each dedicated to a different type of hernia and its surgical management. [books.google.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

(Etiology) Kyphoscoliotic Ehlers-Danlos Syndrome is caused by mutation(s) in the PLOD1 gene. Under normal circumstances (when the gene is not mutated), it codes for an enzyme called lysyl hydroxylase 1. [dovemed.com]

Relevant External Links for PLOD1 Genetic Association Database (GAD) PLOD1 Human Genome Epidemiology (HuGE) Navigator PLOD1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PLOD1 No data available for Genatlas for PLOD1 Gene Cloning of [genecards.org]

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 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]

Epidemiology of Ehlers-Danlos syndromes [ 4 ] Prevalence of EDS is usually quoted as about 1/5,000 for all types, with hEDS hypermobility type accounting for about half of all registered cases: however, hEDS is an underdiagnosed condition; a frequency [patient.info]

Clinical recognition of the various types of Ehlers-Danlos syndrome is important, which is particularly true for the vascular type, as it is associated with arterial rupture and visceral perforation, with possible life-threatening consequences. [5] Pathophysiology [emedicine.medscape.com]

Individuals with aortic dilation may require treatment with beta blockers to prevent further expansion. [ncbi.nlm.nih.gov]

Physical therapy aims to improve strength of muscles surrounding a joint, thereby stabilizing the area and preventing dislocations. [scoliosisassociates.com]

In additional, there are several steps you can take to prevent injury. [healthline.com]

Preventive measures in EDS will include consequent protection of the eye from trauma and definite therapy of the dry eye syndrome. [dog.org]

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