Hunziker N
Dermatologica. 1980;160(3):180-9. doi: 10.1159/000250493.
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.
一名患者已发表了一例Richner-Hanhart综合征(RHS)(角膜病变稳定,手掌和脚底有角化过度病变),经证实与II型酪氨酸血症有关。本文描述了另外2例(姐弟)仅有RHS典型皮肤特征及II型酪氨酸血症的病例。采用低苯丙氨酸和酪氨酸饮食治疗改善了我们这3例患者的皮肤病变。