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Keratodermia palmaris et plantaris (palmoplantar keratodermia; keratosis palmoplantaris)


Keratodermia Palmaris Et Plantaris (Palmotar Keratodermia; Keratosis Palmotaris)

General: Autosomal recessive; hereditary disorder; diffuse or 555h74f focal thickening of the palms and soles.

Ocular: Hyperkeratosis of lid and cornea; ectropion; leukoma; corneal ulceration; pronounced photophobia; hereditary optic atrophy; epiphora; conjunctivitis.

Clinical: Localized or disseminated hyperkeratotic changes of the palms and soles with a tendency toward fissure and secondary infection.

Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.

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/.

Schopf E, et al. Syndrome of cystic eyelids, palmo-tar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects 1971; 7:219-221.




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