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[Oculocutaneous type II tyrosinosis]
O Podglajen-Wecxsteen1, E Delaporte, F Piette
1Service de Dermatologie A, Hôpital Huriez, Lille.
Annales De Dermatologie Et De Venereologie
|January 1, 1993
Summary
Richner-Hanhart syndrome, a genetic disorder of tyrosine metabolism, typically presents with skin, eye, and intellectual issues. A new atypical case highlights late-onset skin symptoms, emphasizing the importance of metabolic testing for diagnosis and dietary management.
Area of Science:
- Genetics
- Metabolic Disorders
- Dermatology
Background:
- Richner-Hanhart syndrome (oculo-cutaneous tyrosinosis type II) is an autosomal recessive disorder affecting tyrosine metabolism.
- It is characterized by a variable combination of palmo-plantar keratosis, bilateral keratitis, and mental retardation.
Observation:
- A novel case presented atypically with a late onset of palmoplantar keratosis.
- Diagnosis was confirmed through biochemical findings: hypertyrosinemia, hypertyrosinuria, and urinary phenolic acid excretion.
- Hepato-renal lesions were notably absent, and liver biopsy was not required for diagnosis.
Findings:
- Biochemical analysis confirmed the diagnosis of Richner-Hanhart syndrome.
- Dietary management involving controlled phenylalanine and tyrosine intake normalized tyrosinemia levels.
- This dietary intervention led to favorable and sustained improvement in oculo-cutaneous manifestations.
Implications:
- Early diagnosis and metabolic management are crucial for treating Richner-Hanhart syndrome.
- Dietary therapy is effective in managing the oculo-cutaneous symptoms.
- Retinoids offer an alternative or supplementary treatment for isolated skin lesions.