Rare diseases Patient with dry skin, low sweat, with characteristic facial features. Dental abnormality seen. Identify the condition.



hypohydrotic ectodermal dysplasia.name itself tells symptom poor or absent sweating.poor dentition saddle nose.patient gets hyperthermia during febrile episodes.intelgency usually normal nice case sir.

Thank you Dr vishwa

Anhidrotic ectodermal dysplasia

Anhydrosis ,asteatosis n hypotrichosis triad seen in ED ,Christ Siemens Touraine syndrome

Perfect Dr Sarita, a classical case.

hypohydrotic ectodermal dysplasia or Christ Siemens Touraine Syndrome

Correct again Dr Mayank it's one of the Orphan diseases in dermatology , keep it up. Please read about all the facial features, it all fits in this case. Very rare but read about the other systemic abnormality.

congenita ectodermal dysplasia

Anhydrotic ectodermal dysplasia.

ectodermal dysplasia.

Yes madam, it's hypohidrotic or anhidrotic type also called CST syndrome. There is another ectodermal dysplasia with normal sweating called Clouston syndrome

celtic fibrosis

cystic fibrosis

This is orphan disease...The flat nose bridge gives the impression of DS...Experts pls correct me if I am wrong....

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