Hereditary ectodermal dysplasia syndrome (siemens syndrome; keratosis follicularis spinulosa syndrome; hypohidrotic ectodermal dysplasia; christ-siemens-touraine syndrome; weech syndrome; anhidrotic ectodermal dysplasia; ichthyosis follicularis) 5

General: Autosomal recessive inheritance; strong male preponderance (about 95%); linked to X-chromosome.

Ocular: Complete loss of eyebrows (madarosis); follicular keratosis; blepharitis; entropion or ectropion; reduced tear formation or epiphora; myopia; keratoconjunctivitis; corneal erosions and ulcers (recurrent); corneal dystrophy; cataract; increased periorbital pigmentation; mongoloid lid slant; photophobia; absence of iris; luxation of lens; papillary abnormalities; cataracts.

Clinical: Mental retardation; dry skin and anhidrosis (reduced number of sweat glands); hypotrichosis; follicular hyperkeratosis (neck, palms, soles); hypohidrosis.

Ekins MB, Waring GO III. Absent meibomian glands and reduced corneal sensation in hypohidrotic ectodermal dysplasia. J Pediatr Ophthalmol Strabismus 1981; 18:44-47.

Freire MN, et al. A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs. J Med Genet 1975; 12:308-310.

Hazen PG, et al. Premature cataracts in a family with anhidrotic ectodermal dysplasia. Arch Dermatol 1980; 116: 1385-l387.

Liakos GM. Anhidrotic ectodermal dysplasia with lacrimal anomalies. Br J Ophthalmol 1979; 63:520-522.

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/.

Oosterwijk JC, et al. Linkage analysis and regional assignment of keratosis follicularis spinulosa decalvans to Xp22.2-p21.2. Cytogenet Cell Genet 1991; 58:2078(abstr).