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Epidermolysis bullosa simplex: generalised severe type 

Epidermolysis bullosa (EB) is the term used to describe a number of rare genetic conditions which cause the skin to blister and shear in response to minimal friction and trauma. There are four broad categories of EB: EB simplex, junctional EB, dystrophic EB and Kindler syndrome. Within each of these categories there are several subtypes. One of the subtypes of EB simplex is the generalised severe type (previously known as Dowling Meara type).

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Pharmacy is defined as the study of medicines. It involves studying how medicines are discovered, developed and made. It also covers how medicines work in the body to prevent or treat disease, and how active ingredients can be made in to medicines.

Ketogenic diet

The ketogenic diet (KD) is a therapeutic diet, which has been shown to improve seizure control in patients with drug resistant epilepsy, and is used in some patients with metabolic conditions for example, glucose transporter type 1 deficiency syndrome (GLUT1) and pyruvate dehydrogenase deficiency (PDH).

Skin biopsy: punch method

The skin is complex with an array of functions. It is the body’s largest organ, protecting the deeper tissues and organs from mechanical damage, chemical damage, bacterial damage, ultraviolet radiation and thermal damage. The skin aids in regulating body temperature, in excretion of urea and uric acid and also synthesis of vitamin D (Marieb 2012). 

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