Ichthyosis hystrix, Curth Macklin type

Common Name(s)

Ichthyosis hystrix, Curth Macklin type

{1:Anton-Lamprecht (1978)} stated that 4 genetic disorders of keratinization were known to have a structural defect of tonofibrils. (1) In the harlequin fetus ({242500}), an abnormal x-ray diffraction pattern of the horn material points to a cross-beta-protein structure instead of the normal alpha-protein structure of keratin. (2) Bullous ichthyosiform erythroderma (EHK; {113800}) is characterized by an early formation of clumps and perinuclear shells due to an abnormal arrangement of tonofibrils. (3) In the Curth-Macklin form of ichthyosis hystrix, concentric unbroken shells of abnormal tonofilaments form around the nucleus. (4) In ichthyosis hystrix gravior ({146600}), only rudimentary tonofilaments are found with compensatory production of mucous granules.
 

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Following organizations serve the condition "Ichthyosis hystrix, Curth Macklin type" for support, advocacy or research.

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