X-linked ichthyosis in a patient with congenital hypothyroidism.

How to Cite

Guarnieri M., Stagi S., Manoni C., Battini M.L., Massi D., Galluzzi F., Salti R. 2004. X-linked ichthyosis in a patient with congenital hypothyroidism. Eur. J. Pediat. Dermatol. 14 (2):85-89.


Guarnieri M. Stagi S. Manoni C. Battini M.L. Massi D. Galluzzi F. Salti R.
pp. 85-89


Thyroid hormones play a major role in brain metabolism, growth and development and the serious consequences of thyroid hormone deprivation have been well documented. In congenital hypothyroidism the prevalence of congenital malformations (8-15%), particularly involving the nervous system and heart, is higher than in the general population (1-2%). The structure of the skin may be affected to varying degrees. Increasing evidence shows that thyroid hormones exert an important and interesting action on the skin. We described a newborn with a clinical spectrum of congenital hypothyroidism and X-linked ichthyosis. To the best of our knowledge, it is the first report regarding this association. We could hypothesize that a steroid sulfatase enzyme deficiency, which is commonly found in X-linked ichthyosis, plays a role in the thyroid metabolism. Ichthyosis must be evaluated in patients with congenital hypothyroidism. Thyroid function may be evaluated in patients with X-linked ichthyosis in order to diagnose possible hypothyroidism.


X-linked ichthyosis, Congenital hypothyroidism, Thyroid metabolism, Dyshormonogenesis, Steroid sulfatase