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]

Dermatosparaxis Type - presents with severe skin fragility and substantial bruising. [me-pedia.org]

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

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

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

• 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]

  […] from classical form Type V X-linked Similar to mild classical type X-linked recessive inheritance Unknown molecular defect Type X Joint hyperextensibility, mitral valve prolapse, easy bruising, poor wound healing, clotting disorder Clotting studies showed [en.wikibooks.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]

• 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 Pes planus Flat feet Flat foot [ more ] 0001763 Premature rupture of membranes 0001788 Progressive congenital [rarediseases.info.nih.gov]

• 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: Congenital muscle hypotonia, and/or muscle atrophy, that improves with age; Proximal joint contractures (knee, hip and elbow); and Hypermobility of distal joints. There are four minor criteria. [ehlers-danlos.com]

  hypotonia and delayed motor development. [genecards.org]

  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]

• 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]

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

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]

Its characteristics and results of treatment in thirty-five patients. J Bone Joint Surg Am. 1975; 57(3):358–368. 8. Sponseller PD, Bhimani M, Solacoff D, Dormans JP. Results of brace treatment of scoliosis in Marfan syndrome. [healio.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]

Etiology, diagnosis, and treatment implications. Sports Health 4(5): 394-403. Full text on PubMed. 5. [forgottendiseases.org]

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]

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]

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]