Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Classic lamellar ichthyosis is a rare, autosomal recessive, genetically heterogeneous skin disease caused by mutations in the transglutaminase 1 gene. Pseudoainhum is characterized by the appearance of a constricting band around a digit which may lead to spontaneous amputation. We describe a 41-year-old man with classic lamellar ichthyosis with unusual eye changes and pseudoainhum of both the fifth and the third right toes. Eye abnormalities included bilateral ectropion of the lower eyelids, chronic blepharitis, and nuclear cataract. A radiometric assay revealed greatly reduced skin transglutaminase activity. To the best of our knowledge, this report is unique as classic lamellar ichthyosis with deficient transglutaminase activity has never been associated with pseudoainhum of the toes and the early development of nuclear cataract.
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PMID:Lamellar ichthyosis associated with pseudoainhum of the toes and eye changes. 1295 Mar 35