Ectodermal Dysplasia: A Genetic Review

Abstract

Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder.How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

“…It was suggested that Cephalometric analysis has a favorable effect on the growth of maxilla and mandible following the placement of dentures. [ 11 ] Future trial of Recombinant EDA-A1 administration is going on to correct the features of XLHED. [ 11 ] Prenatal diagnosis can be performed using mutation analysis by chorionic villus sampling at 11–12 weeks of pregnancy or indirect prenatal diagnosis may be performed by linkage analysis.…”

“…[ 11 ] Future trial of Recombinant EDA-A1 administration is going on to correct the features of XLHED. [ 11 ] Prenatal diagnosis can be performed using mutation analysis by chorionic villus sampling at 11–12 weeks of pregnancy or indirect prenatal diagnosis may be performed by linkage analysis. In conclusion, an early diagnosis of HED and dental treatment is an essential part of the management because the psychological factor is always there in the absence of teeth thus dentures will give a psychological boost to the self-image of the child.…”

The role of the dentist in the diagnosis of ectodermal dysplasia

“…At clinical and radiographic examination, no missing teeth were found. The mother also presented few facial features, but the dental involvement was remarkable with 11,12,16,17,18,21,22,25,26,28,45,46,47,48,35, 36, 37, 38 missing teeth. The mother reported in the anamnesis that in adolescence she also had several missing teeth, which suggests that she also presented EDH.…”

“…What differs one form of disease from the other is the alteration degree in the glands and the genetic transmission 11 . EDs are caused by specific genes mutations 12 or specific chromosome coupling 13 . In most cases, the syndrome has a recessive character linked to the X chromosome 6 , and may also be transmitted as an autosomal dominant chromosome 4 or autosomal recessive chromosome [14][15] .…”

Application of next generation sequencing in the diagnosis of complex genetic disorders

“…Ectodermal dysplasias (ECD) are inherited disorders characterized by abnormal morphogenesis of ectoderm 15 . Ectoderm is one of the three primary germ layers during the development of early embryo.…”