Pili Torti: A Feature of Numerous Congenital and Acquired Conditions

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.

A 7‐month‐old boy with global developmental delay, hypotonia, and abnormal hair

“…The association of neoplastic disease (e.g., cutaneous T-cell lymphoma), systemic diseases (e.g., malnutrition, chronic graft-vs-host disease), and drugs (e.g., sodium valproate, epidermal growth factor receptor inhibitors, oral retinoids) with acquired pili torti has been reported. 9 Trichoscopic or microscopic examination is required for the diagnosis of pili torti, trichorrhexis nodosa, and monilethrix. 9 Diseases associated with trichorrhexis nodosa include argininosuccinic aciduria, biotinidase deficiency, congenital disorder of glycosylation, Venkatesh Chandrasekaran shall act as guarantor of the paper.…”

“…9 Trichoscopic or microscopic examination is required for the diagnosis of pili torti, trichorrhexis nodosa, and monilethrix. 9 Diseases associated with trichorrhexis nodosa include argininosuccinic aciduria, biotinidase deficiency, congenital disorder of glycosylation, Venkatesh Chandrasekaran shall act as guarantor of the paper.…”

“…Acquired pili torti is observed in alopecia caused by discoid lupus erythematosus, lichen planopilaris, alopecia areata, folliculitis decalvans, and dissecting cellulitis. The association of neoplastic disease (e.g., cutaneous T‐cell lymphoma), systemic diseases (e.g., malnutrition, chronic graft‐vs‐host disease), and drugs (e.g., sodium valproate, epidermal growth factor receptor inhibitors, oral retinoids) with acquired pili torti has been reported 9 . Trichoscopic or microscopic examination is required for the diagnosis of pili torti, trichorrhexis nodosa, and monilethrix 9 …”

Use of FACIAL ARTERY MUSCULOMUCOSAL and Turbinate Flaps for Rapp Hodgkin Syndrome

“…These disorders are generally inherited in an autosomally dominant fashion but sporadic mutations do occur. Rapp Hodgkin syndrome consists of lack of hair and eyelashes, eyebrows, lacrimal ducts obstruction, midfacial hypoplasia, cleft lip and palate, narrow nose and upper lip, oligodontia, anodontia, microsomia, hearing loss, and inability to sweat [8][9][10][11] . Our case did not have lacrimal ducts abnormalities and sweating disability.…”

EGFR inhibitor-induced folliculitis decalvans: a case series and management guidelines

“…Trichoscopy is a diagnostic examination of the scalp surface, visualized at magnification and usually in polarised light. Characteristic signs of folliculitis decalvans in trichoscopy consist of hair tufts, yellow purulent discharge, perifollicular erythema, follicular hyperkeratosis, extravasations, pili torti, dystrophic hair, broken hair, and atrichous areas [4,[17][18][19][20]. The term hair tufts concerns polytrichia, when 5-20 hairs become grouped into doll's hair-like follicular bundles, as a result of grouping the destructed outer root sheaths of follicles by the neutrophil-rich inflammatory infiltrate to non-inflammatory areas [4,21,22].…”