By Gary M. White, MD
Richner-Hanhart syndrome, also known as tyrosinemia type II, is caused by a defect in hepatic tyrosine aminotransferase and elevated levels of tyrosine are found in the urine, blood, and feces.
- Bilateral keratitis occurs and may lead to corneal ulceration or opacities (onset of ocular symptoms 2 weeks to 8 years).
- Children may present with intermittent red eyes, tearing, and photophobia.
- Mental retardation may occur.
- Inheritance is AR.
- Mutations in the tyrosine aminotransferase (TAT) gene are causative.
Initially, the young child develops bulla and erosions of the soles which progress to sharply demarcated, yellowish plaques limited to pressure points. Intense pain is an important diagnostic clue. It may be significant enough to necessitate crawling or walking with crutches. Rarely, cutaneous changes may occur without ocular changes and thus, any patient with painful callosities should have tyrosine levels measured.
A diet low in tyrosine and phenylalanine can induce clearing. Such a diet must be low in foods such as meat, fish, and eggs. Oral retinoids have also been used with some success.
An 11-year-old girl, born to a consanguineous marriage, presented with painful plantar hyperkeratosis that made it difficult to walk from 2 years of age. Indian J Dermatol Venereol Leprol 2015;81:303-5
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