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BMJ Case Rep. 2014 Feb 3;2014. pii: bcr2013201225. doi: 10.1136/bcr-2013-201225.

An unusual case of ectodermal dysplasia: combating senile features at an early age.

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  • 1Private Practice, Haridwar, Uttarakhand, India.


Ectodermal dysplasia (ED) refers to a group of inherited diseases that have developmental defects in at least two major structures derived from the ectoderm, that is, hair, teeth, nails and sweat glands. Although more than 192 distinct disorders have been described, the most common is X-linked recessive hypohidrotic ED (Christ-Siemens-Touraine syndrome). Since such patients usually presents with missing teeth, dentists are usually the first person to diagnose such cases. Diagnosis of such cases is important because absence of sweat glands can lead to hyperthermia which can be life-threatening if proper care is not taken. Through this manuscript, we report a case of anhidrotic ED affecting deciduous and permanent dentition, which is rare.

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