Ectodermal Dysplasias com...

Ectodermal Dysplasias comprise a rare , heterogeneous group of disorders involving the structures developing from primordial external germ layer such as hair , teeth , nail and sweat glands. X-linked Anhidrotic Ectodermal Dysplasia is the most common type among this group of disorders. Features of X-linked Anhidrotic Ectodermal Dysplasia : Hair - Hair is sparse , dry and lusterless with a light colour •Teeth - A wide range of dental abnormalities may be associated ranging from complete absence of teeth to sparse , abnormally shaped teeth •Nails - often nails are normal although onychodysplasia reported in 39 % cases •Sweat glands - sweating is severely diminished or absent due to paucity or absence of eccrine glands. •Skin - hypopigmented ,smooth ,shiny skin. •Full everted lower lips , conspicuous nostrils. Both AD and AR inheritance patterns can occur in Hypohidrotic / Anhidrotic Ectodermal , though these are much rarer than the X-L-R form. AR forms of the disorder is characterised by : 1. Complete clinical manifestations in both male and female patients. 2. Equally affected male and female children in single sibships. 3. Highly consanguineous families. 4. Multiple affected family members. Following are the images of rare variant AR Anhidrotic Ectodermal Dysplasia