HARLEQUIN ICHTHYOSIS

By Gary M. White, MD


Harlequin ichthyosis (HI) is a rare autosomal recessive congenital ichthyosis caused by mutations in the ABCA12 gene which results in a major skin barrier defect.

Clinical

Hard, keratotic plates cover the newborn. The infant is usually premature and of low birthweight. Ectropion and eclabium are common. The ears, nose, fingers and toes may be hypoplastic or rudimentary. The limbs may have limited mobility. Soon, there is shedding of the thick plates, leaving diffuse erythema and fine scale. This later phenotype is relatively more protective because of decreased transepidermal water loss and increased ease of respiration.

Treatment

The child should be transfered immediately to a neonatal intensive care unit. A multidisciplinary approach should include pediatricians, dermatologists, ophthalmologists, plastic surgeons, psychologists, dieticians, geneticists, and ear, nose, and throat specialists. Acitretin should be initiated within the first 7 days of life.

Surgical release of constrictive plaques has been performed [PD 2016;33;e327]

References

JAAD Case Rep. 2016 Jul; 2(4): 301–303

Turk Pediatri Ars. 2014 Sep; 49(3): 269–271.

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