Ichthyosis hystrix is a very rare, autosomal, dominantly Inherited disorder of keratinization clinically characterised by hyperkeratosis of somewhat variable extent and ultrastructurally by unbroken perinuclear shells of tonofilaments and binucleated keratinocytes within the upper spinous and granular layers. We report the case of a 2-year-old female child who at birth presented generalised hyperkeratosis. On examination, hyperkeratotic adherent papillomatous scales covered most of the body surface including palms and soles. Histology showed a massive hyperkeradtosis, acanthosis and papillomatosis. Focal vacuolisation of the keratinocytes in the upper spinous and granular layers was also observed. Electron microscopic examination revealed thick perinuclear shells of tonofilaments delimiting a perinuclear compartment with numerous vacuoles. Several binucleated keratinocytes were also present in the upper spinous and granular layers. Characteristic electron microscopic findings allow differentiation of ichthyosis hystrix from generalised epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) which can display a similar clinical and histological picture.
|Translated title of the contribution||A case of ichthyosis hystrix|
|Publication status||Published - 1998|
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