Ichthyosis hystrix gravior

Finally, ichthyosis hystrix gravior has been reported repeatedly in the literature. It is worth remembering the famous cases of porcupine men of the Lambert family and the Bafverstedt type . A new case of ichthyosis hystrix gravior will briefly be reported. Areas of particularly severe involvement included the face, the ears, and the extremities. Skin malformation is combined in this patient with deafness of the inner ear. This patient has been demonstrated at the Dermatologic Joint Meeting at Heidelberg, October 1976 He seems to us to represent a special syndrome not only from the clinical point of view but also because of his unusual ultrastructural features. 

Structural abnormalities are demonstrable in some dominant types, in keratohyalin (defective in autosomal dominant ichthyosis vulgaris), and tono-filaments (impaired or disturbed in their arrangement in hystrix-like ichthyoses clump formation in bullous ichthyosiform erythroderma or epidermolytic hyperkeratosis shell formation associated with high numbers of binucleate cells in ichthyosis hystrix type Curth-Macklin impairment in ichthyosis hystrix gravior type Rheydt). Keratohyalin and tonofilaments are both structural proteins of keratinizing tissues. 

Figure 10.8 Ichthyosis hystrix gravior with deafness (Type Rheydt). Blown-up cells of the granular layer with largely reduced amounts of tonofilaments (open arrow), normal or slightly rounded keratohyalin (KH) granules, and production of membrane-bound mucous granules (MG) that discharge their contents to the intercellular spaces ( ) A -nuclei x5500...

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