[Oculocutaneous type II tyrosinosis].
Richner-Hanhart syndrome, also called oculo-cutaneous tyrosinosis type II, is a recessive autosomal genodermatosis consecutive to a disorder of tyrosine metabolism. It presents as a varying association of palmo-plantar keratosis, bilateral keratitis and mental retardation. The authors report a new case which is atypical in that palmoplantar keratosis made a late appearance. The diagnosis was confirmed by the presence of hypertyrosinaemia, hypertyrosinuria and urinary excretion of phenolic acids, and the absence of hepato-renal lesion. Needle biopsy of the liver, which demonstrates the deficiency of soluble cytosolic tyrosine aminotransferase, is not indispensable to the diagnosis and was not performed in our patient. Treatment consisted of a dietary measure: a controlled phenylalanine and tyrosine intake to obtain a tyrosinaemia below 10 mg/100 ml. This resulted in a favourable and durable course of the oculo-cutaneous lesions. In case of isolated skin lesion, retinoids can be prescribed either alone of combined with a diet, making it less strict.
Podglajen-Wecxsteen
O
O
Service de Dermatologie A, Hôpital Huriez, Lille.
Delaporte
E
E
Piette
F
F
le Flohic
X
X
Bergoend
H
H
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007634:Keratitis / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine
Tyrosinose oculo-cutanée de type II.