Hypohidrotic ectodermal dysplasia presenting as aural and nasal myiasis

Summary 

Hypohidrotic ectodermal dysplasia is a genetic disorder, which has significant manifestations in the ear, nose and throat but could escape detection or may be misdiagnosed due to the rarity of the condition. We present one such rare case of full-blown Christ–Siemens–Touraine syndrome in a female patient who presented to us for the first time with nasal and aural myiasis. When associated with myiasis, these patients are more vulnerable for the complications of both aural cholesteatoma and atrophic rhinitis. Hence the otolaryngologist needs to consider this disorder in the differential diagnosis of simultaneous aural and nasal myiasis.

Keywords: Christ–Siemens–Touraine syndrome, Ectodermal dysplasia, Saddle nose deformity, Atrophic rhinitis, Cholesteatoma