TY - JOUR AU - Guarnieri, M. AU - Stagi, S. AU - Manoni, C. AU - Battini, M.L. AU - Massi, D. AU - Galluzzi, F. AU - Salti, R. PY - 2004/06/30 Y2 - 2024/03/28 TI - X-linked ichthyosis in a patient with congenital hypothyroidism. JF - European Journal of Pediatric Dermatology JA - Eur. J. Pediat. Dermatol. VL - 14 IS - 2 SE - DO - UR - https://www.ejpd.com/index.php/journal/article/view/286 SP - 85-89 AB - 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. ER -