Autosomal Syndromic Ichthyosis

Trichothiodystrophy / TAY syndrome / IBIDS syndrome

  • Beginning: Birth.
  • Clinical picture: Severe.
  • Syndromic: Associated with hair disorders.

Newborns may appear with a collodion membrane, followed by a decrease in erythema during the following weeks and a progression to generalized ichthyosis, usually without erythema, ranging from fine, translucent scaling to extensive dark yellow-brown hyperkeratosis.

It is possible to appreciate low weight at birth, a lack of fatty tissue (which makes their faces especially thin), short stature, and delayed psychomotor development.

There is an alteration in the hair and body hair. This alteration of the hair is due to having an anomalous low sulfur content.