Prosthodontic Management of Children with Ectodermal Dysplasia: Review of Literature

Abstract

gene was located to Xq 12-13 by Zonana et al. [20]. Autosomal forms of HED are due to mutation in the EDA receptor (EDAR). EDAR binds specifically the A1 isoform of EDA (EDA-A1) but not the EDA-A2 isoform that utilizes a distinct receptor. Autosomal HED may also be caused by mutation in a cytosolic, EDAR-specific adapter molecule named EDAR-associated death domain (EDARADD) [17,18,21,22]. The EDA, EDAR and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. It is essential for the formation of several structures that arises from ectoderm, including the skin, hair, nails teeth and sweat glands. Mutation in these genes prevents normal interaction between the ectoderm and mesoderm and impairs the normal development of hair, sweat glands and the teeth [7,8]. The improper formation of these ectodermal structures leads to the characteristic features of HED. In rare cases, HED is associated with immune deficiency caused by mutations in further downstream components of the EDA pathway that are necessary for the activation of the transcription factor NF-kappa b [18-20,23,24]. Clinical Manifestations Hypohidrosis is possibly the most remarkable characteristic of ED because it may not be the apparent in the first year of life but present later as a fever of unknown origin. The inability to sweat results in intolerance to heat, occasionally causing hyperpyrexia after mild exertion or even after a simple meal [25]. Resultant high fevers may lead to seizures and other neurological sequelae. This is one of the most common causes of mortality with a 30% rate in infancy and early childhood [26]. Other problems associated are pharyngitis, rhinitis, cheilitis and dysphagia may result from decreased number of mucous glands in the respiratory and gastrointestinal tracts [27]. In