Richner-Hanhart syndrome and tyrosinemia type II.
A patient already published a case of Richner-Hanhart syndrome (RHS) (stabilized corneal lesions and hyperkeratotic lesions on the palms and soles) proved to be associated with tyrosinemia type II. 2 other cases (sister and brother) with only typical dermatologic features of RHS and tyrosinemia type II are described. The treatment with a low phenylalanine and tyrosine diet improves the cutaneous lesions in our 3 cases.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007634:Keratitis / Q000150:complications / Q000378:metabolism; D007645:Keratoderma, Palmoplantar / Q000150:complications* / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014443:Tyrosine / Q000097:blood* / Q000378:metabolism
D014443:Tyrosine