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Symptoms and outcomes Introduction The symptoms of EB can vary greatly. Each patient with EB is unique in his or her symptoms and also when they are compared with patients with a similar clinical diagnosis.The symptoms are determined by the type and nature of inheri-tance. The symptoms in a dominant inheritance are generally less severe than the symptoms in recessive inheritance types. This module describes the general symptoms that may occur in several types of EB and the symptoms that specifically belong to EB simplex, junctional EB and dystrophic EB. In all types of EB blistering is prominent. These blisters may cause: • Wounds and wound infection; • Scarring; • Itch; • Pain. Additionally, internal blisters can seriously disrupt the intake of nutrients which results in anaemia and/or constipation. Furthermore, physical exhaustion, tooth decay, missing toe / finger nails and balding often occurs. Blistering The numerous blisters and wounds require endless daily care and dressing. This is an enormous burden for the patient and/or the carers. The severity of the blistering may vary. Thus, for example, while having the flu, blisters can suddenly appear or blistering may become worse because of extreme weather changes. As the patient gets older blistering is sometimes reduced because the patient learns to move more carefully. Wounds and wound infection EB-patients with regularly recurring blisters and large open wounds continuously run the risk of wound infection. These infections are usually caused by gram-positive micro-organisms (such as staphylococci and streptococci). These wound infections complicate wound healing and can lead to scarring. The curbing influence of a wound infection on the healing process has been demonstrated. Infection is a normal part of the tissue recuperation but when this phase is extended by disrupting external factors (such as the infection with gram-positive micro-organisms earlier mentioned), the total healing process is delayed. Infected wounds do not heal well because bacterial toxines cause swelling of tissue, bleedings and breakdown of tissue collagen. Additionally, wound contraction due to recurrent scarring can lead to serious deformities and functional impairments. Scarring Blisters (especially those of dystrophic EB-patients) often heal leaving atrophic scarring which cause functional impairments of joints and muscles. Scarring can result in contractures which cause serious postural and mobility problems. One's physical appearance can also be seriously affected by scarring. Itch EB-patients are often troubled by chronic itch (especially on the locations of healing wounds). Here, the skin is dry and flaky. Itch is often the EB-patient's major complaint. They indicate it drives them `crazy'. It affects their sleep. Scratching frequently causes new blisters and/or open wounds Pain Pain is a common feature. It is caused among other things by blistering and constipation. Locations where pain is particu-larly manifest include the skin (blisters are painful and bursting a blister is often accompanied by a stabbing pain), eyes, mouth (poor teeth, fixation of the tongue to the floor of the mouth, `eroded' tongue), pharynx, oesophagus (pain when swallowing) and anus (pain when defecating). Movements may be painful because of contractures and rubbing clothing. Absent or not fully-developed nails may be a feature; the remaining parts of the nail still present, are often painful when pressure is exerted on them. Finally, great pain may be caused by a squamous cell carcinoma. Anaemia Many patients with junctional and dystrophic EB are anaemic. The severity is determined by the type of EB the person suffers from. The anaemia is usually caused by an iron de-ficiency (as a result from the altered nutritional intake and possibly decreased absorbency of the gastrointestinal tract). The chronic loss of blood and tissue fluids from wounds and the recurrence of wound infections can also be responsible for the anaemia. In those cases, anaemia will continue to be present despite iron supplements or it will fail to react to iron therapy. In this situation, the anaemia can virtually only be treated by blood transfusion. Constipation Constipation is present in all types of EB. It often starts when hard stools blister the anal margin. Already at an early age the child finds out that straining is painful and will try to avoid opening his/her bowels which is the start of a vi-cious circle. This is a painful problem. The use of pain-killers (which may have a constipating effect) worsens the complaints of constipation. Constipation is also present in anaemic EB-patients who are treated with iron supplements. Moreover, it is considered to be the result of a low-fibre diet. EB-patients find it often difficult to consume solid food which changes the diet pattern towards the use of low-fibre nutrients that may have a constipating effect. An inadequate fluid intake may cause constipation too. Physical exhaustion People with EB often feel physically exhausted. This may be caused by anaemia, sleep disturbances because of itch and by lack of energy because the consumption of nutrients exceeds the intake. Physical exhaustion leads to irritability, impair-ment of concentration and lower immunity. Tooth decay The teeth of EB-patients may show an abnormal structure because of the poor quality of the dentine and/or enamel. Therefore, the teeth are prone to cavities. The development of caries is enhanced by the use of sugary drinks to compensate the calorie deficiency and the inability to cleanse the teeth properly because of the restricted oral opening and the sensitive oral mucous membrane. When people are dealing with these two problems, dental treatment often requires a general anaesthetic. The teeth are often incomplete. Dental elements are absent here. Missing nails Absent or not fully-developed nails may be a feature in all types of EB. This may cause pain especially when pressure is exerted on the remaining parts of the nail still present or on the matrix. Balding In all types of EB (but particularly in the junctional and dystrophic type) balding may occur.
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