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  • A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalised subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localised subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition follows an autosomal recessive pattern of inheritance.
  • A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalized subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localized subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition follows an autosomal recessive pattern of inheritance.
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