ABSTRACT
Malformations of the inner ear are an important cause of congenital deaf-mutism. Arrest in embryologic development of inner ear during various stages gives rise to the variety of malformations encountered. Current treatment options include hearing aids, cochlear implants, and auditory brainstem implants (ABI). With the advent of cochlear implant surgery and ABI, decent functional outcomes can be obtained provided such cases are diagnosed correctly and timely. To that end, high-resolution computed tomography (HRCT) has a fundamental role in the assessment of these conditions, ably supplemented by magnetic resonance imaging (MRI). The purpose of this pictorial essay is to illustrate the imaging features of inner ear anomalies in children with congenital deaf-mutism as per the latest terminology and classification and provide an algorithmic approach for their diagnosis.
ABSTRACT
Erythrokeratodermia variabilis is a rare genodermatosis characterized by the coexistence of randomly occurring, transient, erythematous patches and hyperkeratosis of the skin. A 25-year-old Uzbekistanian female with congenital deaf-mutism presented with well demarcated geographic hyperkeratotic patches and bizarre erythema on the whole body surface except the face, hands and feet from birth. The histopathological examination revealed marked hyperkeratosis, moderate acanthosis in the epidermis and vascular dilatation with a perivascular infiltration of inflammatory cells in the upper dermis. Herein we report on a rare case of erythrokeratodermia variabilis with congenital deaf-mutism which was rapidly improved by administering acitretin.
