A syndrome characterized by keratosis palmaris et plantaris from infancy, with lacrimation, persistent dendritic lesions of the cornea with unaffected corneal sensitivity, photophobia, mental retardation, and self-mutilating behaviour.
It is an inborn error of amino acid metabolism, causing elevated tyrosine levels in the blood. It is transmitted as an autosomal recessive trait.
First described by Richner in 1938 and Hanhart in 1947 as an oculocutaneous syndrome characterized by herpetiform corneal ulcers and painful punctate keratoses of digits, palms, and soles. Richner described skin lesions in brother and sister. Only the brother had corneal lesions. Hanhart delineated the mode of inheritance, reporting that the parents of his patient were second cousins, and also described associated severe mental and somatic retardation. The pedigree he reported was reproduced by Petrus Johannes Waardenburg (1886-1979) et al in 1961, describing children of a first-cousin marriage, one with the full syndrome and one with only corneal changes.
- H. Richner:
Hornhautaffektion bei Keratoma palmare et plantare hereditarium.
Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1938, 100: 580-585.
- E. Hanhart:
Neue sonderformen von Keratosis palmo-plantaris, u.a. eine regelmässig-dominante mit systematisierten Lipomen, ferner 2 einfach-rezessive mit Schwachsinn und z. T. mit Hornhautveränderungen des Auges (Ektodermalsyndrom).
Dermatologica, Basel, 1947, 94: 286-308.
- P. J. Waardenburg, A. Franceschetti, D. Klein:
Genetics and Ophthalmology.
Springfield, Illinois: Charles C Thomas (publisher) 1 1961. Pp. 515-517.