Abstract
The disease is characterized by skin blistering (epidermolysis bullosa) usually evident in the neonatal period (manifesting as fragility and skin denudation occurring spontaneously or after friction or trauma), associated with a limb-girdle muscular dystrophy (MDEBS) with variable onset, leading to wheelchair bound even at early age, and high mortality [1–3]. Skin blistering continues throughout the life, and it may be associated with enamel hypoplasia and nail dystrophy, abnormal dentition, rapid decay of teeth, urethral strictures, scarring alopecia, palmoplantar hyperkeratosis, pyloric atresia, respiratory complications, and laryngeal webs [1].
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Angelini, C. (2018). Limb-Girdle Muscular Dystrophy with Epidermolysis Bullosa Simplex. In: Genetic Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-56454-8_23
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DOI: https://doi.org/10.1007/978-3-319-56454-8_23
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