X-linked ichthyosis associated with Hypohidrotic ectodermal dysplasia

Abstract

X-linked ichthyosis is a genetic disorder characterized by a generalized scaling of the skin with large, polygonal, dark brown scales, more prominent on the extensor aspects of the limbs. Only males manifest the disease, while female carriers do not present it. Since 1978 it has been known that a deficit in steroid sulphatase enzyme (STS) is responsible for the abnormal cutaneous scaling, although the exact physiological mechanism remains uncertain. On the other hand, Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, hypotrichosis and hypodontia. The condition is usually an X-linked recessive disorder affecting predominantly males. But X-linked ichthyosis asociated with Hypohidrotic ectodermal dysplasia is a rare presentation. In this article we are reporting a rare case of X-linked ichthyosis associated with hypohidrotic ectodermal dysplasia.

J. Dhaka National Med. Coll. Hos. 2021; 27 (01): 43-48