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Medically reviewed by Daniel Murrell, M. Recently, 13 major types of Ehlers-Danlos syndrome have been subtyped. These include: classic classic-like cardiac-valvular vascular hypermobile arthrochalasia dermatosparaxis kyphoscoliotic brittle cornea spondylodysplastic musculocontractural myopathic periodontal Each type of EDS affects different areas of the body. What causes EDS? What are the symptoms of EDS?
How is EDS diagnosed? How is EDS treated? Potential complications of EDS. Read this next. Hypermobile Joints. Medically reviewed by Dr. Payal Kohli, M. Since the publication of the criteria for EDS a couple of other genes have been identified describing additional new subtypes. That said, there can be substantial overlap between the EDS subtypes.
This can occur when a person meet s a minimal clinical requirement but ha s no access to molecular confirmation or whose genetic testing shows one or more gene variants of uncertain significance. These individuals should be followed clinically, and alternative diagnoses and expanded molecular testing , skin histology microscope examination of a skin biopsy , and testing of possibly affected family members should be considered. Diagnostic criteria are meant solely to distinguish an EDS from other hereditary disorders of connective tissue, and there are many more symptoms for each EDS than there are in the diagnostic criteria.
You can find the diagnostic criteria for the thirteen subtypes of EDS, here. Pain and fatigue are almost universal in the Ehlers-Danlos syndromes. Clinical manifestations of an E DS are typically joint and skin related and may include:. Soft velvety-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily bruising may be severe including clots under the skin hematoma ; severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors fleshy lesions associated with scars over pressure areas.
Connective tissue is everywhere in the body. It provides support and structure to other tissues and organs including bone, ligaments, tendons, blood vessels, lymphatic vessels, the tissue that holds the gastrointestinal tract in place, etc. There are many proteins in connective tissue. One of the key proteins is collagen. This lead s to the connective tissue becoming weaker. Different tissues and organs can be affected in diverse ways depending on the genetic fault. Such problems and their severity vary considerably from person to person, even in the same type of EDS and within the same family.
To date thirteen types of EDS have been identified. Despite their common name, each type is a distinct condition caused by a different gene mutation. The most common type is thought to be hypermobile EDS. Its exact prevalence is not known, but along with the related conditions the hypermobility spectrum disorders, it may be common.
The other types are rare. The journey to diagnosis is sometimes a long and convoluted one. Ehlers-Danlos syndrome. From Genetics Home Reference. Description Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Frequency The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5, individuals worldwide. Causes Mutations in at least 20 genes have been found to cause the Ehlers-Danlos syndromes.
Inheritance The inheritance pattern of the Ehlers-Danlos syndromes varies by type. Research Studies from ClinicalTrials.
Ehlers-Danlos syndromes: revised nosology, Villefranche, Am J Med Genet. Ehlers-Danlos syndrome, classical type. Epub Feb The Ehlers-Danlos syndromes, rare types. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Vascular Ehlers-Danlos Syndrome. Pain management in the Ehlers-Danlos syndromes. Orthopaedic management of the Ehlers-Danlos syndromes. An update on the new classification of Ehlers-Danlos syndrome and review of the causes of bleeding in this population.
Epub Jun Hypermobile Ehlers-Danlos Syndrome.
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