Ectodermal dysplasia, anhidrotic

Abstract

Keywords Disease name and synonyms Definition Diagnosis criteria Differential Diagnosis Etiology and Genetics Epidemiology Genetic Counseling Prenatal Diagnosis Treatment References Abstract Ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by developmental dystrophies of ectodermal structures. The X-linked recessive ED (Christ-Siemens-Touraine syndrome ) is the most common disordere (80%of EDs); it affects males and is inherited through female carriers. It is characterized by the triad of signs comprising sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth (anodontia or hypodontia) and inability to sweat due to lack of sweat glands (anhidrosis or hypohidrosis). The lack of teeth and the special appearance were reported to be major concerns. The incidence in male is estimated at 1 in 100,000 births, the carriers-incidence is probably around 17.3 in 100,000 women Most patients with EDA have a normal life expectancy and normal intelligence. However, the lack of sweat glands may lead to hyperthermia, followed by brain damage or death in early infancy, if unrecognized. Thus an early diagnosis is important. Families with EDA should therefore be offered genetic counseling. Currently the genes and gene products are defined, but the function of the proteins is not fully known. Once the exact function is known, we can understand the embryogenesis and morphogenesis of the ectodermal structures. It is quite possible that these kinds of observations of gene function and interaction may form the basis of new therapeutic methods in the future. For the patients as well as the dentists tooth agenesis and its secondary effects on growth and development of the jaws is often the most significant clinical and therapeutical problem. The course of the treatment is to restore the function and the aesthetics of the teeth, normalise the vertical dimension and support the facial soft tissues.