Recent Advances in the Genetics and Management of Harlequin Ichthyosis
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- Hera Ahmed
- Department of Dermatology Barts Health National Health Service Trust Whitechapel London UK
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- Edel A. O'Toole
- Centre for Cutaneous Research Blizard Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK
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説明
<jats:title>Abstract</jats:title><jats:p>Harlequin ichthyosis (<jats:styled-content style="fixed-case">HI</jats:styled-content>) is the most severe and devastating form of the autosomal recessive congenital ichthyoses (<jats:styled-content style="fixed-case">ARCI</jats:styled-content>s). Mutations in the <jats:styled-content style="fixed-case"><jats:italic>ABCA</jats:italic></jats:styled-content><jats:italic>12</jats:italic> gene result in disruption of intercellular lipid deposition in the stratum corneum and a major skin barrier defect. Patients present at birth, often premature, with cutaneous thick, yellow, hyperkeratotic plates with deep erythematous fissures, causing a typical facial appearance. Harlequin ichthyosis has often been considered to be fatal, and management tends to be palliative, but follow‐up of 45 affected infants has shown that with good neonatal care and early introduction of oral retinoids, survival rates are improving. Because <jats:styled-content style="fixed-case"><jats:italic>ABCA</jats:italic></jats:styled-content><jats:italic>12</jats:italic> mutations have been identified, known carriers are able to undergo preventative preimplantation and prenatal genetic testing. Experimental studies have shown recovery of lipid secretion in lamellar granules using corrective gene therapy. Further research is needed to develop alternative therapies to retinoids in <jats:styled-content style="fixed-case">HI</jats:styled-content>.</jats:p>
収録刊行物
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- Pediatric Dermatology
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Pediatric Dermatology 31 (5), 539-546, 2014-06-12
Wiley
