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Congenital pili torti - Hair and Scalp
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Congenital pili torti - Hair and Scalp

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Contributors: Mary Gail Mercurio MD, Jeffrey D. Bernhard MD, Lowell A. Goldsmith MD, MPH
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Synopsis

Pili torti (PT) refers to a hair shaft that is flattened and twisted on its own axis with a range of 90 to 360 degrees (usually 180 degrees) at irregular intervals, giving the hair a spangled appearance. The affected hairs are brittle and break easily; thus, they do not attain a normal length. PT may occur as an isolated phenomenon or with other abnormalities. It has been described in association with many other defects (deafness, intellectual disability, ichthyosis, skeletal deformities) as well as recognizable syndromes (Bazex-Dupré-Christol, Menkes, hypohidrotic ectodermal dysplasia, Bjornstad, and Crandall). For a complete list of syndromes, search Pili Torti in the Online Mendelian Inheritance in Man (OMIM) database: https://www.ncbi.nlm.nih.gov/omim.

PT is usually congenital but may occur in the first and second years of life. The classic type of PT is a diffuse abnormality usually found in association with thin blond hair, occurring alone or as part of an ectodermal dysplasia syndrome. A rare late-onset variant of PT is inherited in an autosomal dominant fashion, mostly in patients with jet-black hair, and is characterized by alopecia of the scalp, face, and body hair that develops after puberty.

Codes

ICD10CM:
Q84.1 – Congenital morphological disturbances of hair, not elsewhere classified

SNOMEDCT:
17170005 – Pili torti

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

PT must be differentiated from other disorders that produce brittle hair. The following can be differentiated by light microscopic visualization of the hair shaft:

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated: 10/10/2018
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Congenital pili torti - Hair and Scalp
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Congenital pili torti : Brittle hair, Unruly hair, Short broken hairs, Entire scalp
Clinical image of Congenital pili torti
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