Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a male patient suffering from a congenital ichthyosiform dermatosis, whose family history offered no clue to the diagnosis. The skin lesions were mainly localized on the trunk, hands, elbows, and knees. During the last few years, the cutaneous lesions had slowly changed for the worse and the following additional symptoms had developed: keratitis, deafness, diffuse alopecia, dysarthria, and ataxic abasia. According to the clinical features, we established the diagnosis of KID syndrome (keratitis, ichthyosis, deafness). Although the skin lesions of our patient clinically and histologically belong to the group of atypical erythrokeratodermias, the term "KID syndrome" recently described by Skinner represents an useful, unifying clinical term.
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PMID:[Atypical erythrokeratodermia with deafness, keratitis and double mycotic infection]. 323 40