Twisted Hairs (Pili Torti)

The genetics of hair shaft disorders

“…170,171 PT has been reported with different EDs. 153,154,[172][173][174][175][176][177][178][179][180][181][182][183][184] (Table III).…”

“…Ectodermal dysplasias/defects reported with pili tortiWidely spaced teeth and enamel hypoplasia153,172 Acrofacial dysostosis of the palagonia type173,174 …”

Ectodermal manifestations in Menkes disease

“…Pili torti has been found in four other diseases, but is not found in the general population. The four diseases include trichorrhexis nodosa syndrome (Pollitt et al 1968), ichthyosiform erthroderma (Tay 1970), pili torti and nerve deafness (Bj~rnstad 1965) and pili torti syndrome (Ronchese 1932). An inborn error of metabolism, argininosuccinicaciduria due to argininosuccinate lyase deficiency, may also produce brittle hair (Price 1978), but the abnormality most commonly seen in this disease is trichorrhexis nodosa.…”

Pili torti and Onychodysplasia

“…In particular, even if twisted hair is a rather unspecific find ing, we have distinguished those syndromes where they were often or always reported, i.e. ectodermal dysplasia with syndactyly [2], trichoodontoonychodysplasia with pili torti [2], arthrogryphosis and ectodermal dysplasia [2], twis ted hair and enamel hypoplasia syndrome [6], Salamon's syndrome [7], and Rapp-Hodgkin's syndrome [8]. Later, we evaluated possible relationships with other complex genetic syndromes, beside ectodermal dysplasia, often fea turing pili torti like Bjornstad's syndrome [9].…”