Pili torti

Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).

Syndactyly

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\".


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PMID (PMCID)
29265343
 FEMALE
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.
Florian R, Gruber R, Volc-Platzer B.
Int J Dermatol. 2018;57(2):223-226.
We here report a consanguineous family with a 2-year-old girl featuring EDSS1, including slowly progressive alopecia on the head, pili torti-like twisted hairs in trichoscopy, widely spaced, peg-shaped and conical teeth, proximal syndactyly with fusion of the 2nd to 4th toes, and generalized dry skin.
29265343
 FEMALE
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.
Florian R, Gruber R, Volc-Platzer B.
Int J Dermatol. 2018;57(2):223-226.
We here report a consanguineous family with a 2-year-old girl featuring EDSS1, including slowly progressive alopecia on the head, pili torti-like twisted hairs in trichoscopy, widely spaced, peg-shaped and conical teeth, proximal syndactyly with fusion of the 2nd to 4th toes, and generalized dry skin.
8071068
 FEMALE Infant
[Pili torti et canaliculi in ectodermal dysplasia].
Trueb RM, Spycher MA, Schumacher F, Burg G.
Hautarzt. 1994;45(6):372-7.
In a case of ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome and in a patient with familial tricho-odonto-onychial ectodermal dysplasia with syndactyly, scanning electron microscopy demonstrated pili torti et canaliculi, helicotrichia and cuticular dystrophy.