Damage of the respiratory system orqans in children with hypohydrotic ectodermal dysplasia syndrome.

Abstract

Hypohidrotic ectodermal dysplasia syndrome is a genetic disorder that impacts the tissues and organs derived from the ectoderm, with a notable effect on the epidermis of the skin, resulting in developmental anomalies in these tissues (It affects the skin, nails, sweat glands, and sebaceous glands, as well as, the ears, eyes, lips, teeth, and even the central nervous system). The etiology of this syndrome remains uncertain, it is hypothesized to result from mutations in the ED genes. The inheritance pattern of these genes can occur through autosomal dominant, autosomal recessive, X-linked dominant, or X-recessive, X-linked dominant, or X-linked recessive modes. Males account for approximately 90% of patients diagnosed with this syndrome. ED is classified into two groups based on its impact on sweat glands: hypohidrotic/ anhidrotic and hidrotic subtypes. -The hypohidrotic subtype (Christ Siemens Touraine syndrome) is distinguished by a reduction in the number of sweat glands, whereas the anhidrotic subtype is characterized by the absence of sweat glands. -In the hidrotic type (Clouston syndrome, tooth and nail syndrome, Witkop syndrome) the sweat glands are normal.