Congenital Pilar Defect Showing Features of Pili Torti

Jm, Beare

doi:10.1111/j.1365-2133.1952.tb15799.x

Cited by 49 publications

(5 citation statements)

References 11 publications

(1 reference statement)

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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%

Family with “pure” hair-nail ectodermal dysplasia

et al. 1997

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"Pure" ectodermal dysplasias are developmental disorders affecting only tissues of ectodermal origin. Two different pure ectodermal dysplasias involving only hair and nails have been described to date. Here we describe congenital nail dystrophy and hypotrichosis associated with folliculitis decalvans in a family suggesting autosomal-dominant transmission. This report documents peculiar clinical and ultrastructural hair findings that fit poorly into previously described conditions. Thus the reported patients could represent a new type of pure ectodermal dysplasia.

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Section: Discussionmentioning

confidence: 81%

Family with “pure” hair-nail ectodermal dysplasia

et al. 1997

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“…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%

Pili torti and Onychodysplasia

Calzavara‐Pinton

Carlino²,

Benetti³

et al. 1991

Dermatology

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Ectodermal dysplasias are a large and heterogeneous groups of clinically and genetically distinct syndromes. We studied a family suffering from dystrophies of the distal part of the nails and trichodysplasia. Scalp, beard, pubic and axillary hair were broken off leaving a stubble 1-10 mm in length. Eyebrows, eyelashes and body hair were completely absent. Serum levels of copper and plasma levels of amino acids were within the normal range. Inheritance was autosomal recessive. Previous reports of ectodermal dysplasias and other complex syndromes with pili torti are reviewed.

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“…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%

Differential diagnosis of hair loss in children

Mandt

Vogt

Blume‐Peytavi

2004

J Deutsche Derma Gesell

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Hair loss in childhood covers a broad differential diagnosis and often presents the involved dermatologist and pediatrician with a diagnostic and therapeutic challenge. Correct classification of the hair disease, especially in the case of underlying genetic syndromes, metabolic defects or endocrine disorders, is often an important prerequisite for continued normal physical and mental development of the young patients. Dealing with hair loss in childhood, one should differentiate between congenital and acquired diseases. The clinical manifestation profile, the age of the patient when the initial manifestation occurred, and the presence of associated symptoms are important for the classification of the hair disease. In the present paper, a classification of hair loss in childhood based on clinical appearance, age of onset and associated symptoms is proposed as a guide for the evaluation of hair loss and alopecia in childhood.

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Congenital Pilar Defect Showing Features of Pili Torti

Cited by 49 publications

References 11 publications

Family with “pure” hair-nail ectodermal dysplasia

Family with “pure” hair-nail ectodermal dysplasia

Pili torti and Onychodysplasia

Differential diagnosis of hair loss in children

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