Richner-Hanhart Syndrome (tyrosinaemia type II, oculocutaneous tyrosinaemia)
Are You Confident of the Diagnosis? What you should be alert for in the history Usually a triad of photophobia (with excessive lacrimation and conjunctival suffusion), painful keratoderma associated with hyperhidrosis, and abnormal behavioral patterns in a neonate or infant. Not all patients present the classic features of the triad. Characteristic findings on physical examination…