1952
DOI: 10.1111/j.1365-2133.1952.tb15799.x
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Congenital Pilar Defect Showing Features of Pili Torti

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Cited by 49 publications
(5 citation statements)
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References 11 publications
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“…The possibility that our patients are affected by the mild phenotype of other previously described disorders [Clouston, 1929;Beare, 1952;Christianson and Fourie, 1996] may easily be ruled out on clinical grounds. In conclusion, our patients do not seem to fulfill the criteria of any previously reported disorder and could therefore represent a new type of pure ED involving hair and nails.…”
Section: Discussionmentioning
confidence: 81%
“…The possibility that our patients are affected by the mild phenotype of other previously described disorders [Clouston, 1929;Beare, 1952;Christianson and Fourie, 1996] may easily be ruled out on clinical grounds. In conclusion, our patients do not seem to fulfill the criteria of any previously reported disorder and could therefore represent a new type of pure ED involving hair and nails.…”
Section: Discussionmentioning
confidence: 81%
“…Pili torti (Beare type) syndrome [5] shows pili torti and onychodysplasia but typically these anomalies appear only after puberty and it is autosomal dominant. On the basis of the complete absence of sweating and dental anom alies weean ruleoutall other forms of ectodermal dysplasia.…”
Section: Resultsmentioning
confidence: 99%
“…Classic pili torti may form part of a clinical syndrome with ectodermal abnormalities, such as keratosis pilaris, widely spaced teeth, nail dystrophy, corneal opacities, and occasionally ichthyosis. In some pedigrees with late‐onset type [13], mental retardation and in a number of patients sensorineural hearing loss (cochlear type) has been reported. The latter emphasizes the importance of early auditory testing in children with this hair structure defect.…”
Section: Isolated Hair Shaft Anomalies With Associated Defects Simulamentioning
confidence: 99%
“…Hair loss in children [13], mental retardation and in a number of patients sensorineural hearing loss (cochlear type) has been reported. The latter emphasizes the importance of early auditory testing in children with this hair structure defect.…”
Section: Pili Tortimentioning
confidence: 99%