DOI: 10.36347/sjmcr.2016.v04i06.005

Pages: 379-381

Ectodermal dysplasia is a large heterogenous group of inherited disorders, defined by primary defect in development of two or more tissue derived from embryonic ectoderm. The tissues primarily involved are skin, its appendages (hair, eccrine glands, sebaceous gland & nails) and teeth. Ectodermal dysplasias are congenital, diffuse & nonprogressive. The genetic defects responsible for approximately 62 of the ectodermal dysplasias have been identified. The most common are X-linked hypohidrotic ectodermal dysplasia (Christ-Seimmens-Touraine Syndrome) which is caused by mutation of EDA gene which encodes the ectodysplasin protein, a soluble ligand that activates the NF-kappaB and JNK/c-fos/c-jun signaling pathways. Ectodysplasin is important in promoting cell survival, growth, and differentiation. Using specialized techniques, including confocal imaging, phototrichogram analysis, and pilocarp ineiontophoresis, a complete absence of eccrine ducts, reduction in hair follicle units & hair follicle density and decreased growth rate of terminal hairs has been demonstrated in patients with XL-HED. In present case we have found classical features of X-linked hypohidrotic Ectodermal dysplasia also known as Christ-Seimmens-Touraine Syndrome.