Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042109 (urticaria)
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A new type of corneal dystrophy with various oculocutaneous symptoms and other signs is described. Snowflake dystrophy is characterized by hundreds of small, round, oval or cork-screw-like white opacities in the endothelium and Descemet's membrane. The length of the opacities is 5-20 mu and they form an even layer throughout the posterior membrane. 44% of the patients above the age of 70 years had also pseudoexfoliation of the lens capsule. Corneal endothelial pigmentation advance with the age but are not even in elderly patients necessarily present. A wide range of cutaneous disturbances of melanin metabolism was noted in 4/5 of the cases: intradermal nevi, lentigines, nevus spilus, melasma, vitiligo, early alopecia and early graying of the hair. Photosensitivity reactions like solar urticaria were noted in 5 cases. The skin was often wrinkled, dry and inelastic. Conjunctival wrinkling and Bitot's spots, ovarial cysts, frequently recurrent tonsillitis and several cholecystectomies suggest a generalized involvement of mucous membranes in this syndrome. Degenerative joint disease was constated in 2/5 of cases. The genetic analysis of 59 persons revealed an autosomal dominant mode of inheritance. The prevalence of the gene was high in the province of Satakunta in western Finland.
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PMID:Inherited corneal snowflake dystrophy with oculocutaneous pigmentation disturbances and other symptoms. 387 58