Recessive Autosomal Icthyosis

Harlequin Ichthyosis

  • Beginning: Birth
  • Clinical picture: Severe
  • Non-syndromic: Does not affect other organs besides the skin.

Harlequin ichthyosis is the most serious type of Autosomal Recessive Congenital Ichthyosis. Its degree of prevalence is 1 case for every million births. It presents a very high risk of mortality during the neonatal period (due to respiratory difficulties, predisposition to infections, changes in body temperature, dehydration, and feeding difficulties), although in some countries the risk has been reduced in recent years.

The baby is born as a ‘harlequin baby’ (covered by a hard, very thickened horny layer that causes severe immobilization and limits respiratory movements.

Once this thickened skin mold cracks, it gives way to large, yellowish and sticky plates, separated by wide, deep fissures and a very intense red color.

People with harlequin ichthyosis have:

  • Ectropion
  • Eclabium
  • Very intense flaking
  • Erythroderma (on 100% of the skin surface)
  • Excessive skin stiffness
  • Absence of fingerprints
  • Arthritis
  • Hypohidrosis
  • Joint contractures
  • Capillary alopecia with lack of eyebrows and eyelashes
  • May have recurrent skin infections