Ahmed Hera, O'Toole Edel A
Department of Dermatology, Barts Health National Health Service Trust, Whitechapel, London, UK.
Pediatr Dermatol. 2014 Sep-Oct;31(5):539-46. doi: 10.1111/pde.12383. Epub 2014 Jun 12.
Harlequin ichthyosis (HI) is the most severe and devastating form of the autosomal recessive congenital ichthyoses (ARCIs). Mutations in the ABCA12 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 ABCA12 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 HI.
丑角鱼鳞病（HI）是常染色体隐性先天性鱼鳞病（ARCI）中最严重、最具破坏性的一种形式。ABCA12基因突变会导致角质层细胞间脂质沉积中断以及严重的皮肤屏障缺陷。患者通常在出生时（常为早产儿）就出现皮肤增厚、发黄、角化过度的鳞屑，伴有深部红斑性裂隙，从而导致典型的面部外观。丑角鱼鳞病通常被认为是致命的，治疗往往以姑息治疗为主，但对45名患病婴儿的随访表明，通过良好的新生儿护理和早期使用口服维甲酸，存活率正在提高。由于已鉴定出ABCA12基因突变，已知的携带者能够接受预防性植入前和产前基因检测。实验研究表明，使用矫正基因疗法可恢复板层颗粒中的脂质分泌。在丑角鱼鳞病中，需要进一步研究以开发替代维甲酸的疗法。
