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What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndromes are a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues. The Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. They are categorized according to the form of genetic transmission into different types with many features differing between patients in any given type. The fragile skin and loose joints is often a result of abnormal genes that produce abnormal proteins that form an inherited frailty of collagen (the normal protein "glue" of our tissues).

Subtypes of EDS

 

What is elastosis perforans serpiginosa?

 

Elastosis perforans serpiginosa (EPS) is a rare skin disorder in which abnormal elastic tissue fibre passes from the papillary dermis (inner layer of skin) to the epidermis (outer layer of skin). This is described as transepithelial elimination and results in a group of small reddish bumps.

Three forms of EPS have been identified:

* Idiopathic EPS: unknown origin, possibly genetic
* Reactive EPS: associated with other inherited disorders such as Down syndrome, Ehlers Danlos syndrome and Marfan syndrome
* Drug-induced EPS: affects 1% of people treated with D-penicillamine

Successful Imiquimod Therapy for Elastosis Perforans Serpiginosa 

 

What is Malignant Hyperthermia?

MHAUS is the only association in North America dedicated to the control of malignant hyperthermia (MH), a life-threatening genetic disorder, and MH-like syndromes. A volunteer Board of Directors governs MHAUS and Professional Advisory Council advises the Board on formulation of all MHAUS medical policies and decisions

 

What is Pfapa?

This is a website i created for my son Kameron when he was diagnosed with pfapa )periodic fever syndrome) and there was absolutely no websites on the issue. Now there are plenty.