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Hanhart syndrome (richner syndrome; recessive keratosis palmoplantaris; pseudoherpetic keratitis; richner-hanhart syndrome; tyrosinemia ii; tyrosinosis; pseudodendritic keratitis) 5


Hanhart Syndrome (Richner Syndrome; Recessive Keratosis Palmotaris; Pseudoherpetic
Keratitis; Richner-Hanhart Syndrome; Tyrosinemia II; Tyrosinosis; Pseudodendritic Keratitis) 5

General: Autosomal recessive; consanguinity.

Ocular: Excess tearing; photophobia; dendritic lesions of the cornea with corneal sensitivity not affected; keratitis; papillary hypertrophy of conjunctiva; corneal haze; neovascularization of cornea; cataract; nystagmus.

Clinical: Dyskeratosis palmotaris; diffuse keratosis; dystrophy of nails; hypotrichosis; mental retardation (usually pronounced); sensorineural hearing loss.

Bardelli AM, et al. Familial tyrosinaemia with eye and skin lesions. Presentation of two cases. Ophthalmologica 1977; 175:5-9.

Bienfang DC, et al. The Richner-Hanhart syndrome: report of a case with associated tyrosinemia. Arch Ophthalmol 1976; 94: 1133-l137.

Burns RP, et al. Keratopathy in tyrosinemia. Birth Defects 1976; 12:169-l80.



Chandra Sekhar HK. Hanhart's syndrome with special reference to temporal bone findings. Ann Otol Rhinol Laryngol 1987; 96:309-314.

Charlton KH, et al. Keratitis and systemic tyrosinemia. Ophthalmology 1981; 88:355-360.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Goldsmith LA, Reed J. Tyrosine-induced eye and skin lesions: a treatable genetic disease. JAMA 1976; 236:382-384.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.




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