Abstract
Pili torti is a rare condition characterized by the presence of the hair shaft, which is flattened at irregular intervals and twisted 180° along its long axis. It is a form of hair shaft disorder with increased fragility. The condition is classified into inherited and acquired. Inherited forms may be either isolated or associated with numerous genetic diseases or syndromes (e.g., Menkes disease, Björnstad syndrome, Netherton syndrome, and Bazex-Dupré-Christol syndrome). Moreover, pili torti may be a feature of various ectodermal dysplasias (such as Rapp-Hodgkin syndrome and Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome). Acquired pili torti was described in numerous forms of alopecia (e.g., lichen planopilaris, discoid lupus erythematosus, dissecting cellulitis, folliculitis decalvans, alopecia areata) as well as neoplastic and systemic diseases (such as cutaneous T-cell lymphoma, scalp metastasis of breast cancer, anorexia nervosa, malnutrition, cataracts, and chronic graft-vs.-host disease). The condition may also be induced by several drugs (epidermal growth factor receptor inhibitors, oral retinoids, sodium valproate, and carbamide perhydrate). The diagnosis of pili torti is based on trichoscopic or microscopic examination. As pili torti is a marker of numerous congenital and acquired disorders, in every case, the search for the signs of underlying conditions is recommended.
Highlights
Pili torti, known as “twisted hair”, was first described by Galewsky, and, independently, by Ronchese in 1932 [1,2]
It is caused by a mutation in the serine protease inhibitor Kazal type 5 (SPINK5) gene, which encodes lymphoepithelial Kazal-type-related inhibitor (LEKTI) [48,49]
Rapp-Hodgkin syndrome is a form of ectodermal dysplasia inherited as an autosomal dominant trait and characterized by anhidrotic ectodermal dysplasia, cleft lip, and cleft palate [80]
Summary
Known as “twisted hair”, was first described by Galewsky, and, independently, by Ronchese in 1932 [1,2] It is characterized by the presence of the hair shaft, flattened at irregular intervals and twisted 180◦ along its long axis, with each twist being. Pili torti is a form of hair shaft disorder with increased fragility [4]. It is classified into inherited or acquired. Isolated pili torti may be occasionally found in the normal scalp. It may be associated with numerous local and systemic conditions [11,12]. Available data on the management of pili torti are presented
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