Familial Richner-Hanhart syndrome in Kuwait: Twelve-year clinical reassessment by a multidisciplinary approach
✍ Scribed by El-Badramany, Magda H. ;Fawzy, Abdel Rahman ;Farag, Talaat I.
- Book ID
- 101446631
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 320 KB
- Volume
- 60
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Hereditary tyrosinemia is rare. The frequency in most populations is less than 1 in 250,000 for both the hepatorenal and the rarest oculocutaneous type [Scott and Cederbaum, 19901. The first clear descriptions of the so-called Richner-Hanhart syndrome (RHS) are by Spanlang [1927] and Fuhs [1928]. They studied a family in which 6 of 8 sibs, their mother, and an aunt had painful palmoplantar keratosis. The index patient also had recurrent keratitis. The sibs and their mother showed crystal flakes in the cornea. Richner [1938] and Hanhart [ 19471 independently recognized the unique nature of this syndrome and confirmed that keratitis with palmoplantar keratosis and, more variably, mental retardation constituted a distinct entity. In 1973, Goldsmith et al. pointed out the similarity between tyrosinemia type 2 and RHS. This autosomal recessive inborn error of metabolism (MIM-276600) is caused by hepatic cytosolic tyrosine aminotransferase (TAT) enzyme deficiency, and the coding gene has been assigned to chromosome 16(q22.1-q22.3) in humans [