Congenital Ichthyosis with Spastic Paraplegia of Adult Onset
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Two siblings had what we believe to be a unique disorder manifested by stationary congenital ichthyosiform erythroderma coupled with a slowly progressive spastic weakness of adult onset. The disorder was presumably inherited as an autosomal recessive trait. The mechanism by which a genetic mutation would mediate this multiple organ system disorder is unknown.
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PMID: 9733035 PMC: 1051429. DOI: 10.1136/jmg.35.9.759.
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PMID: 6357993 DOI: 10.1007/BF00285021.