Keratinopathic Ichthyosis

Epidermolytic ichthyosis

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

This disease appears in 1 of every 200,000-300,000 newborns.

The disease is usually seen at birth with blisters appearing in areas of trauma, redness, and exfoliation. Over time, generalized hyperkeratosis usually develops, especially in the flexion folds, which may or may not be associated with erythroderma. The skin of these people can present superinfections.

The name of epidermolytic ichthyosis comes from the findings observed in the biopsies of the clinical lesions of these patients. In the case of this type of ichthyosis, the failure is well defined since it is due to an alteration of keratins 1 and 10.

Not all cases are hereditary and there is a high frequency of spontaneous mutation: that is, cases without a family history that are due to mutations that occurred during the development of the fetus.

This can give rise to special forms called ‘mosaic’. In those cases, there is no affectation of the entire skin but rather diseased areas can alternate with healthy ones.