Pili torti

Pili torti (also known as twisted hair) is a rare hair shaft disorder characterized by flattened hair shafts that are twisted at irregular intervals along their long axis, typically through 180 degrees. The condition results in brittle, fragile hair that breaks easily, often giving the appearance of sparse, short, and lusterless hair. Pili torti can occur as an isolated finding or as a feature of several syndromic conditions, including Björnstad syndrome (pili torti with sensorineural hearing loss), Menkes disease (a severe X-linked copper metabolism disorder), Bazex-Dupré-Christol syndrome, and Crandall syndrome. The hair abnormality primarily affects the scalp hair, though eyebrows, eyelashes, and body hair may also be involved. Under light microscopy, the characteristic twisting of the hair shaft is readily visible. Hair tends to be dry, coarse, and spangled in appearance, often with a silvery sheen when light reflects off the twisted surfaces. In isolated pili torti, the condition may improve spontaneously after puberty, though this is not universal. When pili torti occurs in isolation, it is generally a cosmetic concern without systemic complications. However, when it presents as part of a syndrome, additional features such as hearing loss, neurological deterioration, intellectual disability, or skin abnormalities may be present and require targeted evaluation. There is no specific curative treatment for pili torti itself. Management focuses on gentle hair care to minimize breakage, avoidance of chemical treatments and excessive heat styling, and the use of protective hairstyles. When pili torti is associated with an underlying syndrome, treatment is directed at the specific associated condition (for example, copper histidine injections in Menkes disease). Genetic counseling is recommended for affected families.

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