Acrolocated papular dermatitis in a child with tyrosinemia I.

Abstract

When aged 1 year, a boy, because of growth retardation, carried out laboratory examinations, that put in evidence raised transaminases. Due to this finding, the patient underwent numerous examinations leading to the final diagnosis of tyrosinemia I. The genetic analysis performed in the Utrecht University put in evidence heterozygosity for the mutation c.497T>G (p.VaL168Gly) in the exon 6 and the mutation c.554-1G>T in the exon 7 of the FAAH (fumaryl-acetoacetate hydrolase). The boy started a treatment with nitisinone and a diet with low content of tyrosine and phenylalanine. At the age of 21/2 years he presented asymptomatic inflammatory lesions on the knees, hands (Fig. 1), armpits and Achilles' tendon. On the hands the partially confluent papules affected the metacarpus-phalanx join and the join between the first and second phalanx. The muscular enzymes were within normal limits. The lesions did not respond to topical corticosteroids.