2 | DISCUSSION
Harlequin ichthyosis is a rare disorder which is inherited in an
autosomal recessive manner. It is caused by mutations in the ABCA12
gene. The disease incidence is 1 in 300 000 births. The histological
hallmarks include an extensive hyperkeratosis in the stratum corneum,
and abnormal or absent lamellar bodies in the granular
layer.1
Early administration of systemic retinoids, in particular acitretin,
usually improves the clinical status. 2