The Richner-Hanhart syndrome: report of a case with associated tyrosinemia.
The Richner-Hanhart syndrome with tyrosinemia was recognized in a mentally retarded adolescent boy. The clinical manifestations, including hyperkeratosis of the volar aspects of the hands and feet, thickening of the conjunctival epithelium, and corneal opacities, as well as biochemical aberrations of tyrosine metabolism, responded to specific treatment with a diet low in phenylalanine and tyrosine. Light and electron microscopical studies illustrate the underlying conjunctival pathologic changes.
D000293:Adolescent; D003228:Conjunctiva / Q000473:pathology; D003315:Cornea / Q000473:pathology; D003318:Corneal Opacity / Q000097:blood* / Q000178:diet therapy / Q000473:pathology; D004727:Endothelium / Q000473:pathology; D004848:Epithelium / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008607:Intellectual Disability / Q000097:blood* / Q000178:diet therapy; D007645:Keratoderma, Palmoplantar / Q000097:blood*; D008297:Male; D010241:Parakeratosis / Q000473:pathology; D010649:Phenylalanine / Q000097:blood; D013577:Syndrome; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine; D010649:Phenylalanine