Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy
Date
2019
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Article
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14 p.
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Abstract
Inherited epidermolysis bullosa (EB) comprises rare heterogeneous disorders characterized by cutaneous and mucosal fragility. Most of the 20 proteins affected have structural functions. Recently, a previously undescribed type of EB simplex (EBS), caused by gain-of-function mutations in KLHL24, encoding KLHL24 has been identified (He et al., 2016; Lin et al., 2016). This protein seems to be involved in protein ubiquitination. Patients carrying monoallelic mutations in the translation initiation codon of KLHL24 have a characteristic clinical phenotype, showing skin defects and blistering at birth and unusual stellate scarring, skin fragility, and whorled or macular hyperpigmentation or hypopigmentation in childhood (Figure 1a–e).
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Citation
Journal of Investigative Dermatology. 2019 Jan;139(1):244-249
Keywords
Epidermolysis bullosa simplex, KLHL24, Dilated cardiomyopathy, NT-Pro-BNP