Hypohiderotic ectodermal dysplasia.
We report a case of a six years age girl who presented to our out patients department with the history and findings suggestive of recurrent respiratory tract infections. She was also noticed to have: non homogeneous hyperpigmented patches on the face since three months of age, sparse hair on the scalp and eyebrows, conical peg like teeth and delayed dentition, prominent and low set ears, perpetually flexed third toe bilaterally. Axillary skin biopsy showed adenexal structures and eccrine glands in subcutaneous fat which were reduced in number. The diagnosis made was: Anhydrotic/Hypohidrotic type of ectodermal dysplasia.
Neopane
A
A
Shree Birendra Hospital, Chhauni. arunneopane@hotmail.com
Singh
S K
SK
Manandhar
B
B
D002648:Child; D003937:Diagnosis, Differential; D053360:Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / Q000175:diagnosis*; D005260:Female; D006801:Humans; D012141:Respiratory Tract Infections / Q000175:diagnosis