Pili torti

Signs and symptoms

Clinically, the hair of individuals with pili torti is dry, coarse, brittle, and fragile. It could lead to patchy alopecia. The most common area affected is the scalp, particularly the occipital and temporal regions. But the eyelashes, pubic hair, axilla, and eyebrows could also be affected. Typically, pili torti just impact a portion of the hair and do not alter the entire length of the hair. Occasionally, isolated pili torti might be discovered in a typical scalp. But it could be connected to a lot of regional and systemic issues.

Causes

Pili torti can be aqquired or inherited. There are three types of inherited pili torti: classic early onset (Ronchese type), late onset (Beare type), and pili torti linked to hereditary illnesses or disorders.

Starting in early life, the classic (Ronchese) type is an autosomal dominant or recessive disease. The third month to the third year of life is when the sickness first manifests. Blond girls are more frequently impacted. Hair twist clusters are typically seen in early-onset pili torti. With age, the disease frequently gets better, especially after puberty.

Usually manifesting after puberty, late onset type is an autosomal dominant condition. People with dark hair seem to experience it more frequently. The hair twists in the late onset form are typically solitary, in contrast to the early onset kind.

Pili torti can also be associated with other genetic conditions such as abnormal hair, joint laxity, and developmental delay, acrofacial dysostosis, Palagonia type, argininosuccinic aciduria, autosomal recessive ichthyosis with hypotrichosis, Bazex-Dupre-Christol syndrome, Björnstad syndrome, citrullinemia, congenital disorder of glycosylation, type Ia, congenital erythropoietic porphyria, congenital hypotrichosis with juvenile macular dystrophy, Conradi-Hünermann syndrome, Crandall syndrome, giant axonal neuropathy, hypotrichosis 6, Laron syndrome, Marie Unna hypotrichosis, McCune–Albright syndrome, Menkes disease, mitochondrial diseases, Netherton syndrome, occipital horn syndrome, Olmsted syndrome, peeling skin syndrome, Salti-Salem syndrome, steatocystoma multiplex, tricho-hepato-enteric syndrome, and trichothiodystrophy, photosensitive.

A diverse range of hereditary diseases known as ectodermal dysplasias are defined by birth abnormalities in one or more ectodermal structures and associated appendages, such as the hair, teeth, nails, and sweat glands. There have been reports of pili torti in several ectodermal dysplasias, including ectodermal dysplasia with syndactyly, ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, Basan syndrome, cleft lip/palate-ectodermal dysplasia syndrome, ectodermal dysplasia 4, hair/nail type, ectodermal dysplasia with corkscrew hairs, ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, Goltz syndrome, hidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia, hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome, oculo-dento-digital syndrome, pachyonychia congenita-2, Rapp-Hodgkin syndrome, Reeds syndrome, Salamon syndrome, Schöpf-Schulz-Passarge syndrome, and trichodysplasia-xeroderma.

Conditions associated with acquired pili torti include lichen planopilaris, frontal fibrosing alopecia, alopecia areata, central centrifugal cicatricial alopecia, discoid lupus erythematosus, dissecting cellulitis, folliculitis decalvans, pseudopelade of Brocq, traction alopecia, linear scleroderma en coup de sabre, repetitive trauma, scalp metastasis of breast cancer, cutaneous T-cell lymphoma, acne conglobate, anorexia nervosa, graft-vs.-host disease, hair transplantation, malnutrition, systemic sclerosis, and cataracts.

Drugs related to pili torti include epidermal growth factor receptor inhibitors, oral retinoids, sodium valproate, and carbamide perhydrate.

Mechanism

Uneven growth of the outer root sheath cells is the source of hair twisting in hereditary forms. The hair shaft and inner root sheath are unevenly molded as a result of cell vacuolation and unequal outer root sheath thickness at the suprabulbar region. In acquired forms, the hair follicle is deformed and rotational forces are generated by a perifollicular inflammation followed by fibrosis.

Diagnosis

Examination under a microscope and trichoscope is used to diagnose pili torti. Low magnification trichoscopy in pili torti reveals the hair shafts bent at random intervals and at varied angles. At high magnification, the hair shaft's regular twists along its long axis are visible. Upon microscopic inspection, the shaft exhibits irregularly spaced clusters of three or four twists at random intervals.

Classification

Pili torti can be aqquired or inherited. There are three types of inherited pili torti: classic early onset (Ronchese type), late onset (Beare type), and pili torti linked to hereditary illnesses or disorders. Acquired pili torti may result from medication side effects or be linked to a variety of systemic and dermatological disorders.

Treatment

Pili torti does not have a specific treatment. It is advised to keep the hair from suffering damage. Additional techniques of care include dyeing, braiding, heat treatments, avoiding over-grooming, and sleeping on a satin pillowcase. Shampoos that are gentle might be helpful.

After puberty, congenital pili torti may heal on their own. Drug-induced instances usually go away as the offending substance is stopped. The most crucial aspect of treating acquired pili torti is treating the underlying ailment.

The use of pharmaceuticals to treat pili torti has minimal efficacy. Topical minoxidil has been proposed as a good therapeutic alternative for individuals with higher fragility in their hair shaft abnormalities. Nevertheless, it does not cause a causative treatment; rather, it solely affects hair density.

History

In 1932, Ronchese and Galewsky separately published the first descriptions of pili torti, also referred to as "twisted hair."

References

References

1. Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN. 0-07-138076-0.
2. James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN. 0-7216-2921-0.
3. Rapini, Ronald P.. (2007). "Dermatology: 2-Volume Set". Mosby.
4. (2021-08-30). "Pili Torti: A Feature of Numerous Congenital and Acquired Conditions". MDPI AG.
5. (2018). "Trichoscopy in Hair Shaft Disorders". Elsevier BV.
6. (2008-07-07). "Trichoscopy in genetic hair shaft abnormalities". Specjalisci Dermatolodzy.
7. (2004-07-01). "Hair and Sweat Glands in Families With Hypohidrotic Ectodermal Dysplasia". American Medical Association (AMA).
8. Rogers, Maureen. (1995). "Hair shaft abnormalities: Part I". Wiley.
9. (2024-03-14). "Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.". BMJ Publishing Group.
10. (2019-05-24). "Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype". Public Library of Science (PLoS).
11. (1997). "Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family". Am J Med Genet.
12. (1981). "Arginosuccinic Aciduria with Pili Torti". SAGE Publications.
13. (2007). "Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase". Elsevier BV.
14. (2005-08-05). "A case of Bazex-Dupré-Christol syndrome associated with multiple genital trichoepitheliomas". Oxford University Press (OUP).
15. (2002). "Three members of a family with pili torti and sensorineural hearing loss: The Bjornstad syndrome". Elsevier BV.
16. (1993). "Pili torti with congenital deafness (Bjornstad's syndrome)- report of three cases in one family, suggesting autosomal dominant transmission". Oxford University Press (OUP).
17. (1985). "Pili torti in association with citrullinemia". Elsevier BV.
18. (2003). "Hair changes in congenital disorders of glycosylation (CDG type 1)". Springer Science and Business Media LLC.
19. (1973). "Pili torti-congenital and acquired". Acta Dermato-venereologica.
20. (2019). "Harper's Textbook of Pediatric Dermatology". Wiley.
21. (2018). "Hair and Scalp Disorders: Medical, Surgical, and Cosmetic Treatments, Second Edition". CRC Press.
22. (1973). "A familial syndrome of deafness, alopecia, and hypogonadism". Elsevier BV.
23. (December 1998). "Pilar dysplasia: an early marker of giant axonal neuropathy". Annales de dermatologie et de venereologie.
24. (2006). "Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions". Elsevier BV.
25. (2006). "An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis". Elsevier BV.
26. (2004). "Laron Syndrome (Primary Growth Hormone Insensitivity): A Unique Model to Explore the Effect of Insulin-Like Growth Factor 1 Deficiency on Human Hair". S. Karger AG.
27. (November 1979). "Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)". Fortschritte der Medizin.
28. (1981). "Cutaneous manifestations of McCune–Albright syndrome: report of a case". Annales de dermatologie et de venereologie.
29. (2015). "Clinical presentation of pili torti — Case report". FapUNIFESP (SciELO).
30. (1999-02-01). "Hair and Skin Disorders as Signs of Mitochondrial Disease". American Academy of Pediatrics (AAP).
31. (2016). "Comèl–Netherton's syndrome in siblings". Indian Journal of Paediatric Dermatology.
32. (2013). "Netherton syndrome with pili torti". Medknow.
33. (1997). "A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family". Elsevier BV.
34. (2005). "Olmsted syndrome". Elsevier BV.
35. (1998). "Peeling Skin Syndrome with Hair Changes". S. Karger AG.
36. (2013). "Dermatoscopy of hair shaft disorders". Elsevier BV.
37. (2015-03-21). "Steatocystoma multiplex with hair shaft abnormalities". Wiley.
38. (2008-02-28). "Syndromic (phenotypic) diarrhea in early infancy". Springer Science and Business Media LLC.
39. Tay, Chong Hai. (1971-07-01). "Ichthyosiform Erythroderma, Hair Shaft Abnormalities, and Mental and Growth Retardation: A New Recessive Disorder". Archives of Dermatology.
40. (1998). "Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinical Severity". Elsevier BV.
41. Itin, Peter H.. (2014-04-08). "Etiology and pathogenesis of ectodermal dysplasias". Wiley.
42. (2009-08-20). "Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome". Wiley.
43. (1991). "Pili torti and Onychodysplasia". Dermatology.
44. (1992). "Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs". Elsevier BV.
45. (2019). "Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation". Termedia Sp. z.o.o..
46. (2016-02-09). "Dermatologic findings of focal dermal hypoplasia (Goltz syndrome)". Wiley.
47. (2020-03-27). "Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma". Wiley.
48. (2011-11-16). "Light Microscopic Hair Shaft Analysis in Ectodermal Dysplasia Syndromes". Wiley.
49. (1977). "OCULODENTODIGITAL DYSPLASIA SYNDROME Report of Four Cases". Wiley.
50. (2005). "Clinical and Pathological Features of Pachyonychia Congenita". Elsevier BV.
51. Munro, C.S.. (2001). "Pachyonychia congenita: mutations and clinical presentations". Oxford University Press (OUP).
52. (1982). "Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome". Wiley.
53. (1974). "The REEDS syndrome". Birth Defects Original Article Series.
54. (2009). "Schöpf-Schulz-Passarge syndrome with pili torti: a new association?". John Libbey Eurotext.
55. (1987). "Trichodysplasia-xeroderma: an autosomal dominant condition". Wiley.
56. (2019-06-12). "Evaluation of a Handheld Dermatoscope in Clinical Diagnosis of Primary Cicatricial Alopecias". Springer Science and Business Media LLC.
57. (2015). "Trichoscopic Findings of Hair Loss in Koreans". Korean Dermatological Association and The Korean Society for Investigative Dermatology.
58. (2019). "Central centrifugal cicatricial alopecia in Asian scalp: Beyond boundaries and race". Journal of the American Academy of Dermatology.
59. (2021). "Trichoscopic findings of discoid lupus erythematosus alopecia: A cross-sectional study". Elsevier BV.
60. (2019). "Evaluation of Trichoscopic Findings of Tractional Alopecia". Turkiye Klinikleri Journal of Dermatology.
61. (2024-03-14). "Linear Morphea Alopecia: New Trichoscopy Findings". Wolters Kluwer -- Medknow Publications.
62. (2017-07-12). "Trichoscopic Features of Linear Morphea on the Scalp". S. Karger AG.
63. (2021-01-11). "Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy". Springer Science and Business Media LLC.
64. (1974). "(11) Familial acne conglobata, hidradenitis suppurativa, pili torti and cataracts*". British Journal of Dermatology.
65. (2005). "Low prevalence of twisted hair in anorexia nervosa". Oxford University Press (OUP).
66. (2018). "Long-standing pili torti in 2 patients with chronic graft-vs-host disease". Elsevier BV.
67. (2019-04-01). "Acquired Pili Torti". American Medical Association (AMA).
68. (2021). "The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series". Elsevier BV.
69. (2016). "Loose anchoring of anagen hairs and pili torti due to erlotinib". Medknow.
70. (May 1985). "Acquired pili torti in two patients treated with synthetic retinoids". Cutis.
71. (2018). "Valproate: It's effects on hair". Medknow.
72. (1977). "Bleaching of hair by carbamide per hydrate". Wiley.
73. (1994). "Pathogenesis in pili torti: morphological study". Elsevier BV.
74. (2003). "Disorders of Hair Growth". McGraw-Hill.
75. Gelles, Lisa N.. (1999-06-01). "Picture of the Month". American Medical Association (AMA).
76. Ronchese, F.. (1932-07-01). "Twisted Hairs (Pili Torti)". Archives of Dermatology.
77. (2012). "Atlas of Trichoscopy: Dermoscopy in Hair and Scalp Disease". Springer London.