Schafer syndrome (tyrosine transaminase deficiency; richer-hanhart syndrome; keratosis palmoplantaris syndrome) 1

General: Etiology unknown; dominant form manifested as an ectodermal dysplasia with disseminated follicular keratosis and leukokeratosis of the oral mucosa; recessive form also involves cornea; oculocutaneous syndrome; autosomal recessive phenotype associated with tyrosine transaminase deficiency.

Ocular: Dustlike, randomly distributed corneal lesions in the lower portion of the cornea; herpetoid corneal lesions; cataract; herpetiform corneal ulcers.

Clinical: Keratosis of palms and soles; pachyonychia; alopecia; microcephaly; dwarfism; oligophrenia; painful punctate keratoses of digits, palms and soles.

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

Grayson M. Corneal manifestations of keratosis taris and palmaris. Am J Ophthalmol 1965; 59:483.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th 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/.

Schafer E. Zur Lehre von den Congenitalen Dyskeratosen. Arch Dermatol Syphil (Germ) 1925; 148:425.