The blisters and erosions can occur as a result of trauma but may also arise spontaneously36 and can be exacerbated by sweating and warmer climates33. Other findings include milia, dystrophy, or absence of nails, alopecia, exuberant granulation tissue, congenital absence of skin, palmoplantar keratoderma, mottled pigmentation, and pigmented naevi26. Secondary skin lesions are cutaneous atrophy, scarring, pigmentary abnormalities, webbing and contractures (Images 30–32)26. EB and cutaneous squamous cell carcinoma: Squamous cell carcinoma (SCC) of the skin is one of the most severe complications of EB, starting to arise in early adulthood in patients with the severe forms of EB, notably RDEB. SCC
can present as a nonhealing, crusted erosion with little or no palpable dermal component, selleck chemicals similar to other wounds on
the skin, or mimic areas of granulation tissue26 (Image 33). Ocular findings in EB: The most common ocular findings in patients with EB include corneal blisters and erosions, corneal scarring, pannus formation, limbal broadening, conjunctival blisters and erosions, symblepharon, eyelid blisters and scars, ectropion, and lacrimal duct obstruction. Marked visual impairment can result from repeated injury to the cornea, especially if scarring develops26. HDAC inhibitor Ear, nose, and throat in EB: Signs and symptoms in the upper respiratory tract in patients with EB can include weak or hoarse cry, dysphonia, inspiratory stridor, soft tissue oedema, vesiculation or blistering of all tracheolaryngeal structures and ulceration, thickening and scarring of the true and false vocal cords26. Dysphagia and oesophageal strictures: EB-associated strictures may arise anywhere in the oesophagus and vary in length
and shape (Image 34). Over time, intra-luminal bullae, web formation, and strictures result in progressive dysphagia with all its consequences, including severe malnutrition, growth impairment, and the risk of aspiration and pneumonia. Dysphagia can present as early as 10 months, with an average of onset at 48 ± 34 months95. Lower gastrointestinal tract complications: The most common lower gastrointestinal complaint is chronic constipation in patients with the more severe EB subtypes26. Malnutrition: Nutritional compromise is directly proportional to the severity of EB and occurs mainly in generalized form of recessive dystrophic EB PAK6 (RDEB) and junctional EB96–98. Acral deformities: Pseudosyndactyly is the most visible extracutaneous complication of inherited EB and is primarily seen in RDEB. These progressive deformities can cause marked functional disability (Images 35 and 36)26. Anaemia: Anaemia occurs in patients with severe EB, particularly RDEB-HS and JEB-H. In most patients, the anaemia is multifactorial in origin. Contributing factors include chronic blood, iron, and protein loss from open wounds on the skin and poor intake and gastrointestinal absorption of iron and other nutrients26.