Nothing Special   »   [go: up one dir, main page]
Jump to content

Pili torti

From Wikipedia, the free encyclopedia
Pili torti
Menkes disease
SpecialtyMedical genetics Edit this on Wikidata

Pili torti (singular pilus tortus; also known as "twisted hairs") is characterized by short and brittle hairs that appear flattened and twisted when viewed through a microscope.[1]: 638 [2]: 764 [3]

Pili torti can be acquired or inherited. Many different genetic syndromes such as Björnstad syndrome and Menkes disease can cause pili torti. Different ectodermal dysplasias like Rapp-Hodgkin syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome can also cause pili torti. Acquired pili torti can be associated with different dermatological conditions or medications. Pili torti is often associated with cicatricial alopecia including lichen planopilaris, frontal fibrosing alopecia, and discoid lupus erythematosus. Epidermal growth factor receptor inhibitors, oral retinoids, sodium valproate, and carbamide perhydrate have been known to induce pili torti.

The diagnosis of pili torti is made via trichoscopic and microscopic inspection. Pili torti does not have any specific treatment.

Signs and symptoms

[edit]

Clinically, the hair of individuals with pili torti is dry, coarse, brittle, and fragile. It could lead to patchy alopecia.[4] 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.[5] Typically, pili torti just impact a portion of the hair and do not alter the entire length of the hair.[6] Occasionally, isolated pili torti might be discovered in a typical scalp. But it could be connected to a lot of regional and systemic issues.[7]

Causes

[edit]

Pili torti can be aqquired or inherited.[4] 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.[8]

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.[8][9]

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.[8][9]

Pili torti can also be associated with other genetic conditions such as abnormal hair, joint laxity, and developmental delay,[10][11] acrofacial dysostosis, Palagonia type,[12] argininosuccinic aciduria,[13] autosomal recessive ichthyosis with hypotrichosis,[14] Bazex-Dupre-Christol syndrome,[15] Björnstad syndrome,[16][17] citrullinemia,[18] congenital disorder of glycosylation, type Ia,[19] congenital erythropoietic porphyria,[20] congenital hypotrichosis with juvenile macular dystrophy,[21] Conradi-Hünermann syndrome,[22] Crandall syndrome,[23] giant axonal neuropathy,[24] hypotrichosis 6,[25][26] Laron syndrome,[27] Marie Unna hypotrichosis,[28] McCune–Albright syndrome,[29] Menkes disease,[30] mitochondrial diseases,[31] Netherton syndrome,[32][33] occipital horn syndrome,[34] Olmsted syndrome,[35] peeling skin syndrome,[36] Salti-Salem syndrome,[37] steatocystoma multiplex,[38] tricho-hepato-enteric syndrome,[39] and trichothiodystrophy, photosensitive.[40][41]

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.[42] There have been reports of pili torti in several ectodermal dysplasias, including ectodermal dysplasia with syndactyly,[21] ankyloblepharon-ectodermal defects-cleft lip and palate syndrome,[43] Basan syndrome,[4] cleft lip/palate-ectodermal dysplasia syndrome,[21] ectodermal dysplasia 4, hair/nail type,[44] ectodermal dysplasia with corkscrew hairs,[45] ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3,[46] Goltz syndrome,[47] hidrotic ectodermal dysplasia,[48][49] hypohidrotic ectodermal dysplasia,[7] hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,[21] oculo-dento-digital syndrome,[50] pachyonychia congenita-2,[51][52] Rapp-Hodgkin syndrome,[53] Reeds syndrome,[54] Salamon syndrome,[4] Schöpf-Schulz-Passarge syndrome,[55] and trichodysplasia-xeroderma.[56]

Conditions associated with acquired pili torti include lichen planopilaris, frontal fibrosing alopecia,[57] alopecia areata,[58] central centrifugal cicatricial alopecia,[59] discoid lupus erythematosus,[60] dissecting cellulitis, folliculitis decalvans, pseudopelade of Brocq,[57] traction alopecia,[61] linear scleroderma en coup de sabre,[62][63] repetitive trauma,[5] scalp metastasis of breast cancer,[4] cutaneous T-cell lymphoma,[64] acne conglobate,[65] anorexia nervosa,[66] graft-vs.-host disease,[67] hair transplantation,[5] malnutrition,[68] systemic sclerosis,[20] and cataracts.[65]

Drugs related to pili torti include epidermal growth factor receptor inhibitors,[69][70] oral retinoids,[71] sodium valproate,[72] and carbamide perhydrate.[73]

Mechanism

[edit]

Uneven growth of the outer root sheath cells is the source of hair twisting in hereditary forms.[4] 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.[74] In acquired forms, the hair follicle is deformed and rotational forces are generated by a perifollicular inflammation followed by fibrosis.[75]

Diagnosis

[edit]

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.[4] Upon microscopic inspection, the shaft exhibits irregularly spaced clusters of three or four twists at random intervals.[6]

Classification

[edit]

Pili torti can be aqquired or inherited.[4] 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.[8] Acquired pili torti may result from medication side effects or be linked to a variety of systemic and dermatological disorders.[4]

Treatment

[edit]

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.[4] Shampoos that are gentle might be helpful.[76][69]

After puberty, congenital pili torti may heal on their own.[4] Drug-induced instances usually go away as the offending substance is stopped.[70][71] The most crucial aspect of treating acquired pili torti is treating the underlying ailment.[4]

The use of pharmaceuticals to treat pili torti has minimal efficacy.[22] 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.[4]

History

[edit]

In 1932, Ronchese and Galewsky separately published the first descriptions of pili torti, also referred to as "twisted hair."[77][8]

See also

[edit]

References

[edit]
  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.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  4. ^ a b c d e f g h i j k l m Hoffmann, Aleksandra; Waśkiel-Burnat, Anna; Żółkiewicz, Jakub; Blicharz, Leszek; Rakowska, Adriana; Goldust, Mohamad; Olszewska, Małgorzata; Rudnicka, Lidia (2021-08-30). "Pili Torti: A Feature of Numerous Congenital and Acquired Conditions". Journal of Clinical Medicine. 10 (17). MDPI AG: 3901. doi:10.3390/jcm10173901. ISSN 2077-0383. PMC 8432236. PMID 34501349.
  5. ^ a b c Rudnicka, Lidia; Olszewska, Małgorzata; Waśkiel, Anna; Rakowska, Adriana (2018). "Trichoscopy in Hair Shaft Disorders". Dermatologic Clinics. 36 (4). Elsevier BV: 421–430. doi:10.1016/j.det.2018.05.009. ISSN 0733-8635. PMID 30201151.
  6. ^ a b Rakowska, Adriana; Slowinska, Monika; Kowalska-Oledzka, Elzbieta; Rudnicka, Lidia (2008-07-07). "Trichoscopy in genetic hair shaft abnormalities". Journal of Dermatological Case Reports. 2 (2). Specjalisci Dermatolodzy: 14–20. doi:10.3315/jdcr.2008.1009. ISSN 1898-7249. PMC 3157768. PMID 21886705.
  7. ^ a b Rouse, Christopher; Siegfried, Elaine; Breer, Wayne; Nahass, George (2004-07-01). "Hair and Sweat Glands in Families With Hypohidrotic Ectodermal Dysplasia". Archives of Dermatology. 140 (7). American Medical Association (AMA): 850–855. doi:10.1001/archderm.140.7.850. ISSN 0003-987X. PMID 15262696.
  8. ^ a b c d e Rudnicka, L.; Olszewska, M.; Rakowska, A. (2012). Atlas of Trichoscopy: Dermoscopy in Hair and Scalp Disease. Springer London. p. 167. ISBN 978-1-4471-4486-1. Retrieved 2024-03-24.
  9. ^ a b Rogers, Maureen (1995). "Hair shaft abnormalities: Part I". Australasian Journal of Dermatology. 36 (4). Wiley: 179–184. doi:10.1111/j.1440-0960.1995.tb00969.x. ISSN 0004-8380. PMID 8593104.
  10. ^ Shapira, S K; Neish, A S; Pober, B R (2024-03-14). "Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities". Journal of Medical Genetics. 29 (7). BMJ Publishing Group: 509–510. PMC 1016033. PMID 1379303.
  11. ^ Sharma, Prashant; Reichert, Marie; Lu, Yan; Markello, Thomas C.; Adams, David R.; Steinbach, Peter J.; Fuqua, Brie K.; Parisi, Xenia; Kaler, Stephen G.; Vulpe, Christopher D.; Anderson, Gregory J.; Gahl, William A.; Malicdan, May Christine V. (2019-05-24). "Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype". PLOS Genetics. 15 (5). Public Library of Science (PLoS): e1008143. doi:10.1371/journal.pgen.1008143. ISSN 1553-7404. PMC 6534290. PMID 31125343.
  12. ^ G, Sorge; L, Pavone; A, Polizzi; L, Mauceri; RM, Leonardi; T, Tripi; JM, Opitz (1997). "Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family". American Journal of Medical Genetics. 69 (4). Am J Med Genet: 388–394. doi:10.1002/(sici)1096-8628(19970414)69:4<388::aid-ajmg10>3.0.co;2-j. ISSN 0148-7299. PMID 9098488. Retrieved 2024-03-24.
  13. ^ Phillips, M E; Barrie, H; Cream, J J (1981). "Arginosuccinic Aciduria with Pili Torti". Journal of the Royal Society of Medicine. 74 (3). SAGE Publications: 221–222. doi:10.1177/014107688107400314. ISSN 0141-0768. PMC 1438288. PMID 7205861.
  14. ^ Basel-Vanagaite, Lina; Attia, Revital; Ishida-Yamamoto, Akemi; Rainshtein, Limor; Ben Amitai, Dan; Lurie, Raziel; Pasmanik-Chor, Metsada; Indelman, Margarita; Zvulunov, Alex; Saban, Shirley; Magal, Nurit; Sprecher, Eli; Shohat, Mordechai (2007). "Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase". The American Journal of Human Genetics. 80 (3). Elsevier BV: 467–477. doi:10.1086/512487. ISSN 0002-9297. PMC 1821100. PMID 17273967.
  15. ^ Yung, A.; Newton-Bishop, J.A. (2005-08-05). "A case of Bazex-Dupré-Christol syndrome associated with multiple genital trichoepitheliomas". British Journal of Dermatology. 153 (3). Oxford University Press (OUP): 682–684. doi:10.1111/j.1365-2133.2005.06819.x. ISSN 0007-0963. PMID 16120174.
  16. ^ Richards, Kristen A.; Mancini, Anthony J. (2002). "Three members of a family with pili torti and sensorineural hearing loss: The Bjornstad syndrome". Journal of the American Academy of Dermatology. 46 (2). Elsevier BV: 301–303. doi:10.1067/mjd.2002.107969. ISSN 0190-9622. PMID 11807445.
  17. ^ PETIT, A.; DONTENWILLE, M.M.; BLANCHET BARDON, C.; CIVATTE, J. (1993). "Pili torti with congenital deafness (Bjornstad's syndrome)- report of three cases in one family, suggesting autosomal dominant transmission". Clinical and Experimental Dermatology. 18 (1). Oxford University Press (OUP): 94–95. doi:10.1111/j.1365-2230.1993.tb00983.x. ISSN 0307-6938. PMID 8440069.
  18. ^ Patel, Harish P.; Unis, Mark E. (1985). "Pili torti in association with citrullinemia". Journal of the American Academy of Dermatology. 12 (1). Elsevier BV: 203–206. doi:10.1016/s0190-9622(85)80018-9. ISSN 0190-9622. PMID 3973120.
  19. ^ Silengo, Margherita; Valenzise, Mariella; Pagliardini, Severo; Spada, Marco (2003). "Hair changes in congenital disorders of glycosylation (CDG type 1)". European Journal of Pediatrics. 162 (2). Springer Science and Business Media LLC: 114–115. doi:10.1007/s00431-002-1054-1. ISSN 0340-6199. PMID 12607543.
  20. ^ a b Kurwa, A R; Abdel-Aziz, A H (1973). "Pili torti-congenital and acquired". Acta Dermato-venereologica. 53 (5): 385–392. doi:10.2340/0001555553385392. PMID 4127474.
  21. ^ a b c d Hoeger, P.H.; Kinsler, V.; Yan, A.C.; Harper, J.; Oranje, A.P.; Bodemer, C.; Larralde, M.; Luk, D.; Mendiratta, V.; Purvis, D. (2019). Harper's Textbook of Pediatric Dermatology. Wiley. p. 2. ISBN 978-1-119-14280-5. Retrieved 2024-03-24.
  22. ^ a b McMichael, A.J.; Hordinsky, M.K. (2018). Hair and Scalp Disorders: Medical, Surgical, and Cosmetic Treatments, Second Edition. CRC Press. p. 325. ISBN 978-1-351-16982-0. Retrieved 2024-03-24.
  23. ^ Crandall, Barbara F.; Samec, Lawrence; Sparkes, Robert S.; Wright, Stanley W. (1973). "A familial syndrome of deafness, alopecia, and hypogonadism". The Journal of Pediatrics. 82 (3). Elsevier BV: 461–465. doi:10.1016/s0022-3476(73)80121-0. ISSN 0022-3476. PMID 4698933.
  24. ^ Rybojad, M; Moraillon, I; Bonafé, J L; Cambon, L; Evrard, P (December 1998). "Pilar dysplasia: an early marker of giant axonal neuropathy". Annales de dermatologie et de venereologie (in French). 125 (12): 892–893. PMID 9922862.
  25. ^ Schaffer, Julie V.; Bazzi, Hisham; Vitebsky, Anna; Witkiewicz, Agnieszka; Kovich, Olympia I.; Kamino, Hideko; Shapiro, Lawrence S.; Amin, Snehal P.; Orlow, Seth J.; Christiano, Angela M. (2006). "Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions". Journal of Investigative Dermatology. 126 (6). Elsevier BV: 1286–1291. doi:10.1038/sj.jid.5700237. ISSN 0022-202X. PMID 16543896.
  26. ^ Zlotogorski, Abraham; Marek, Dina; Horev, Liran; Abu, Almogit; Ben-Amitai, Dan; Gerad, Liora; Ingber, Arieh; Frydman, Moshe; Reznik-Wolf, Haike; Vardy, Daniel A.; Pras, Elon (2006). "An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis". Journal of Investigative Dermatology. 126 (6). Elsevier BV: 1292–1296. doi:10.1038/sj.jid.5700251. ISSN 0022-202X. PMID 16575393.
  27. ^ Lurie, R.; Ben-Amitai, D.; Laron, Z. (2004). "Laron Syndrome (Primary Growth Hormone Insensitivity): A Unique Model to Explore the Effect of Insulin-Like Growth Factor 1 Deficiency on Human Hair". Dermatology. 208 (4). S. Karger AG: 314–318. doi:10.1159/000077839. ISSN 1018-8665. PMID 15178913.
  28. ^ Spiegl, B; Hundeiker, M (November 1979). "Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)". Fortschritte der Medizin (in German). 97 (44): 2018–2022. PMID 511082.
  29. ^ Pierini, A M; Ortonne, J P; Floret, D (1981). "Cutaneous manifestations of McCune–Albright syndrome: report of a case". Annales de dermatologie et de venereologie (in French). 108 (12): 969–976. PMID 7337370.
  30. ^ Yang, Jeane Jeong Hoon; Cade, Karine Valentim; Rezende, Flavia Cury; Pereira, José Marcos; Pegas, José Roberto Pereira (2015). "Clinical presentation of pili torti — Case report". Anais Brasileiros de Dermatologia. 90 (3 suppl 1). FapUNIFESP (SciELO): 29–31. doi:10.1590/abd1806-4841.20153540. ISSN 0365-0596. PMC 4540501. PMID 26312667.
  31. ^ Bodemer, Christine; Rötig, Agnès; Rustin, Pierre; Cormier, Valerie; Niaudet, Patrick; Saudubray, Jean-Marie; Rabier, Denis; Munnich, Arnold; de Prost, Yves (1999-02-01). "Hair and Skin Disorders as Signs of Mitochondrial Disease". Pediatrics. 103 (2). American Academy of Pediatrics (AAP): 428–433. doi:10.1542/peds.103.2.428. ISSN 1098-4275. PMID 9925836.
  32. ^ Shanmukhappa, AshaGowrappala; Kharge, Priyadarshini; Shivaram, Bhumika; Budamakuntala, Leelavathy (2016). "Comèl–Netherton's syndrome in siblings". Indian Journal of Paediatric Dermatology. 17 (4): 294. doi:10.4103/2319-7250.184332. ISSN 2319-7250.
  33. ^ Srinivas, SahanaM; Hiremagalore, Ravi; Suryanarayan, Swetha; Budamakuntala, Leelavathy (2013). "Netherton syndrome with pili torti". International Journal of Trichology. 5 (4). Medknow: 225–226. doi:10.4103/0974-7753.130424. ISSN 0974-7753. PMC 3999660. PMID 24778540.
  34. ^ Ronce, Nathalie; Moizard, Marie-Pierre; Robb, Laura; Toutain, Annick; Villard, Laurent; Moraine, Claude (1997). "A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family". The American Journal of Human Genetics. 61 (1). Elsevier BV: 233–238. doi:10.1016/s0002-9297(07)64297-9. ISSN 0002-9297. PMC 1715861. PMID 9246006.
  35. ^ Mevorah, Baruch; Goldberg, Ilan; Sprecher, Eli; Bergman, Reuven; Metzker, Arieh; Luria, Raziel; Gat, Andrea; Brenner, Sarah (2005). "Olmsted syndrome". Journal of the American Academy of Dermatology. 53 (5). Elsevier BV: S266–S272. doi:10.1016/j.jaad.2005.03.036. ISSN 0190-9622. PMID 16227106.
  36. ^ Mevorah, B.; Orion, E.; de Viragh, P.; Bergman, R.; Gat, A.; Legume, C.; van Neste, D.J.J.; Brenner, S. (1998). "Peeling Skin Syndrome with Hair Changes". Dermatology. 197 (4). S. Karger AG: 373–376. doi:10.1159/000018034. ISSN 1018-8665. PMID 9873177.
  37. ^ Miteva, Mariya; Tosti, Antonella (2013). "Dermatoscopy of hair shaft disorders". Journal of the American Academy of Dermatology. 68 (3). Elsevier BV: 473–481. doi:10.1016/j.jaad.2012.06.041. ISSN 0190-9622. PMID 22940404.
  38. ^ Pietrzak, Aldona; Bartosinska, Joanna; Filip, Agata A.; Rakowska, Adriana; Adamczyk, Michal; Szumilo, Justyna; Kanitakis, Jean (2015-03-21). "Steatocystoma multiplex with hair shaft abnormalities". The Journal of Dermatology. 42 (5). Wiley: 521–523. doi:10.1111/1346-8138.12837. ISSN 0385-2407. PMID 25808203.
  39. ^ Goulet, Olivier; Vinson, Christine; Roquelaure, Bertrand; Brousse, Nicole; Bodemer, Christine; Cézard, Jean-Pierre (2008-02-28). "Syndromic (phenotypic) diarrhea in early infancy". Orphanet Journal of Rare Diseases. 3 (1). Springer Science and Business Media LLC: 6. doi:10.1186/1750-1172-3-6. ISSN 1750-1172. PMC 2279108. PMID 18304370.
  40. ^ Tay, Chong Hai (1971-07-01). "Ichthyosiform Erythroderma, Hair Shaft Abnormalities, and Mental and Growth Retardation: A New Recessive Disorder". Archives of Dermatology. 104 (1): 4–13. doi:10.1001/archderm.1971.04000190006002. ISSN 0003-987X. PMID 5120162.
  41. ^ Botta, Elena; Nardo, Tiziana; Broughton, Bernard C.; Marinoni, Stefano; Lehmann, Alan R.; Stefanini, Miria (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". The American Journal of Human Genetics. 63 (4). Elsevier BV: 1036–1048. doi:10.1086/302063. ISSN 0002-9297. PMC 1377495. PMID 9758621.
  42. ^ Itin, Peter H. (2014-04-08). "Etiology and pathogenesis of ectodermal dysplasias". American Journal of Medical Genetics Part A. 164 (10). Wiley: 2472–2477. doi:10.1002/ajmg.a.36550. ISSN 1552-4825. PMID 24715647.
  43. ^ Dishop, Megan K.; Bree, Alanna F.; Hicks, M. John (2009-08-20). "Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome". American Journal of Medical Genetics Part A. 149A (9). Wiley: 1935–1941. doi:10.1002/ajmg.a.32826. ISSN 1552-4825. PMID 19697429.
  44. ^ Calzavara-Pinton, P.; Carlino, A.; Benetti, A.; de Panfilis, G. (1991). "Pili torti and Onychodysplasia". Dermatology. 182 (3): 184–187. doi:10.1159/000247779. ISSN 1018-8665.
  45. ^ Abramovits-Ackerman, William; Bustos, Tania; Simosa-Leon, Venancio; Fernandez, Luis; Ramella, Marcos (1992). "Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs". Journal of the American Academy of Dermatology. 27 (6). Elsevier BV: 917–921. doi:10.1016/0190-9622(92)70287-p. ISSN 0190-9622. PMID 1479096.
  46. ^ Wawrzycki, Bartłomiej; Pietrzak, Aldona; Chodorowska, Grażyna; Filip, Agata A.; Petit, Veronique; Rudnicka, Lidia; Dybiec, Ewa; Rakowska, Adriana; Sobczyńska-Tomaszewska, Agnieszka; Kanitakis, Jean (2019). "Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation". Advances in Dermatology and Allergology. 36 (3). Termedia Sp. z.o.o.: 358–364. doi:10.5114/ada.2018.73437. ISSN 1642-395X. PMC 6640015. PMID 31333354.
  47. ^ Bree, Alanna F.; Grange, Dorothy K.; Hicks, M. John; Goltz, Robert W. (2016-02-09). "Dermatologic findings of focal dermal hypoplasia (Goltz syndrome)". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172 (1). Wiley: 44–51. doi:10.1002/ajmg.c.31472. ISSN 1552-4868. PMID 26858134.
  48. ^ Kantaputra, Piranit; Intachai, Worrachet; Kawasaki, Katsushige; Ohazama, Atsushi; Carlson, Bruce; Quarto, Natalina; Pruksachatkun, Chulabhorn; Chuamanochan, Mati (2020-03-27). "Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma". The Journal of Dermatology. 47 (6). Wiley: e230–e232. doi:10.1111/1346-8138.15333. hdl:2027.42/155882. ISSN 0385-2407. PMID 32220018.
  49. ^ Hirano, Stefanie A.; Mason, Ashley R.; Salkey, Kimberly; Williams, Judith V.; Pariser, David M. (2011-11-16). "Light Microscopic Hair Shaft Analysis in Ectodermal Dysplasia Syndromes". Pediatric Dermatology. 29 (4). Wiley: 414–420. doi:10.1111/j.1525-1470.2011.01606.x. ISSN 0736-8046. PMID 22084904.
  50. ^ THODÉN, C.-J.; RYÖPPY, S.; KUITUNEN, P. (1977). "OCULODENTODIGITAL DYSPLASIA SYNDROME Report of Four Cases". Acta Paediatrica. 66 (5). Wiley: 635–638. doi:10.1111/j.1651-2227.1977.tb07960.x. ISSN 0803-5253. PMID 197779.
  51. ^ Leachman, Sancy A.; Kaspar, Roger L.; Fleckman, Philip; Florell, Scott R.; Smith, Frances J.D.; McLean, W.H. Irwin; Lunny, Declan P.; Milstone, Leonard M.; van Steensel, Maurice A.M.; Munro, Colin S.; O'Toole, Edel A.; Celebi, Julide T.; Kansky, Aleksej; Lane, EBirgitte (2005). "Clinical and Pathological Features of Pachyonychia Congenita". Journal of Investigative Dermatology Symposium Proceedings. 10 (1). Elsevier BV: 3–17. doi:10.1111/j.1087-0024.2005.10202.x. ISSN 1087-0024. PMID 16250204.
  52. ^ Munro, C.S. (2001). "Pachyonychia congenita: mutations and clinical presentations". British Journal of Dermatology. 144 (5). Oxford University Press (OUP): 929–930. doi:10.1046/j.1365-2133.2001.04216.x. ISSN 0007-0963. PMID 11359376.
  53. ^ Silengo, M. Cirillo; Davi, G. F.; Bianco, R.; Costa, M.; DeMarco, A.; Ve, R.; Franceschini, P. (1982). "Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome". Clinical Genetics. 21 (5). Wiley: 297–300. doi:10.1111/j.1399-0004.1982.tb01375.x. ISSN 0009-9163. PMID 7116674.
  54. ^ Reed, W B; Brown, A C; Sugarman, G I; Schlesinger, L (1974). "The REEDS syndrome". Birth Defects Original Article Series. 10 (5): 61–73. PMID 4220009.
  55. ^ Szepetiuk, Grégory; Vanhooteghem, Olivier; Muller, Gebhard; Stene, Jean Jacques; Nikkels, Arjen F (2009). "Schöpf-Schulz-Passarge syndrome with pili torti: a new association?". European Journal of Dermatology. 19 (5). John Libbey Eurotext: 517–518. doi:10.1684/ejd.2009.0743. ISSN 1167-1122. PMID 19527991.
  56. ^ Pinheiro, M.; Freire-Maia, N. (1987). "Trichodysplasia-xeroderma: an autosomal dominant condition". Clinical Genetics. 31 (5). Wiley: 337–342. doi:10.1111/j.1399-0004.1987.tb02818.x. ISSN 0009-9163. PMID 3608221.
  57. ^ a b Karadag Köse, Özlem; Güleç, A. Tülin (2019-06-12). "Evaluation of a Handheld Dermatoscope in Clinical Diagnosis of Primary Cicatricial Alopecias". Dermatology and Therapy. 9 (3). Springer Science and Business Media LLC: 525–535. doi:10.1007/s13555-019-0304-3. ISSN 2193-8210. PMC 6704216. PMID 31190216.
  58. ^ Park, Jin; Kim, Joo-Ik; Kim, Han-Uk; Yun, Seok-Kweon; Kim, Seong-Jin (2015). "Trichoscopic Findings of Hair Loss in Koreans". Annals of Dermatology. 27 (5). Korean Dermatological Association and The Korean Society for Investigative Dermatology: 539–550. doi:10.5021/ad.2015.27.5.539. ISSN 1013-9087. PMC 4622888. PMID 26512168.
  59. ^ "Central centrifugal cicatricial alopecia in Asian scalp: Beyond boundaries and race". Journal of the American Academy of Dermatology. 81 (4): AB179. 2019. doi:10.1016/j.jaad.2019.06.668.
  60. ^ Gómez-Quispe, Heidy; Elena de las Heras-Alonso, María; Lobato-Berezo, Alejandro; Velasco-Tamariz, Virginia; Pindado-Ortega, Cristina; Moreno-Arrones, Oscar Muñoz; Vañó-Galván, Sergio; Saceda-Corralo, David (2021). "Trichoscopic findings of discoid lupus erythematosus alopecia: A cross-sectional study". Journal of the American Academy of Dermatology. 84 (3). Elsevier BV: 804–806. doi:10.1016/j.jaad.2020.05.144. ISSN 0190-9622. PMID 32502590.
  61. ^ Karadağ KöSe, Özlem; Borlu, Murat (2019). "Evaluation of Trichoscopic Findings of Tractional Alopecia". Turkiye Klinikleri Journal of Dermatology. 29 (1): 7–14. doi:10.5336/dermato.2019-64693. ISSN 1300-0330.
  62. ^ Montoya, Claudia Liliana; Calvache, Natalia (2024-03-14). "Linear Morphea Alopecia: New Trichoscopy Findings". International Journal of Trichology. 9 (2). Wolters Kluwer -- Medknow Publications: 92–93. doi:10.4103/ijt.ijt_34_17. PMC 5551318. PMID 28839399.
  63. ^ Saceda-Corralo, David; Tosti, Antonella (2017-07-12). "Trichoscopic Features of Linear Morphea on the Scalp". Skin Appendage Disorders. 4 (1). S. Karger AG: 31–33. doi:10.1159/000478022. ISSN 2296-9195. PMC 5806185. PMID 29457011.
  64. ^ Rakowska, Adriana; Jasińska, Magdalena; Sikora, Mariusz; Czuwara, Joanna; Gajda-Mróz, Patrycja; Warszawik-Hendzel, Olga; Kwiatkowska, Małgorzata; Waśkiel-Burnat, Anna; Olszewska, Małgorzata; Rudnicka, Lidia (2021-01-11). "Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy". Scientific Reports. 11 (1). Springer Science and Business Media LLC: 282. Bibcode:2021NatSR..11..282R. doi:10.1038/s41598-020-78233-1. ISSN 2045-2322. PMC 7801426. PMID 33431905.
  65. ^ a b Gold, S.C.; Delaney, T.J. (1974). "(11) Familial acne conglobata, hidradenitis suppurativa, pili torti and cataracts*". British Journal of Dermatology. 91 (s10): 54–57. doi:10.1111/j.1365-2133.1974.tb12514.x. ISSN 0007-0963.
  66. ^ Strumia, R.; Borghi, A.; Colombo, E.; Manzato, E.; Gualandi, M. (2005). "Low prevalence of twisted hair in anorexia nervosa". Clinical and Experimental Dermatology. 30 (4). Oxford University Press (OUP): 349–350. doi:10.1111/j.1365-2230.2005.01745.x. ISSN 0307-6938. PMID 15953065.
  67. ^ Penzi, Lauren R.; Saavedra, Arturo; Senna, Maryanne M. (2018). "Long-standing pili torti in 2 patients with chronic graft-vs-host disease". JAAD Case Reports. 4 (1). Elsevier BV: 44–46. doi:10.1016/j.jdcr.2017.10.020. ISSN 2352-5126. PMC 5738549. PMID 29296651.
  68. ^ Evans, J. Brady; Hastings, Justin G.; Kaffenberger, Benjamin H. (2019-04-01). "Acquired Pili Torti". JAMA Dermatology. 155 (4). American Medical Association (AMA): 488. doi:10.1001/jamadermatol.2018.4677. ISSN 2168-6068. PMID 30810707.
  69. ^ a b Kremer, Noa; Martinez, Helena; Leshem, Yael Anne; Hodak, Emmilia; Zer, Alona; Brenner, Baruch; Amitay-Laish, Iris (2021). "The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series". Journal of the American Academy of Dermatology. 85 (5). Elsevier BV: 1178–1184. doi:10.1016/j.jaad.2020.03.055. ISSN 0190-9622. PMID 32244022.
  70. ^ a b Pirmez, Rodrigo; Piñeiro-Maceira, Juan; Gonzalez, CarmenGloria; Miteva, Mariya (2016). "Loose anchoring of anagen hairs and pili torti due to erlotinib". International Journal of Trichology. 8 (4). Medknow: 186–187. doi:10.4103/ijt.ijt_16_16. ISSN 0974-7753. PMC 5387882. PMID 28442878.
  71. ^ a b Hays, S B; Camisa, C (May 1985). "Acquired pili torti in two patients treated with synthetic retinoids". Cutis. 35 (5): 466–468. PMID 3859397.
  72. ^ Kakunje, Anil; Prabhu, Ashwini; Sindhu Priya, ES; Karkal, Ravichandra; Kumar, Parmod; Gupta, Nitin; Rahyanath, PK (2018). "Valproate: It's effects on hair". International Journal of Trichology. 10 (4). Medknow: 150–153. doi:10.4103/ijt.ijt_10_18. ISSN 0974-7753. PMC 6192236. PMID 30386073.
  73. ^ Bolck, F.; Ziegler, V.; Sieler, H. (1977). "Bleaching of hair by carbamide per hydrate". Contact Dermatitis. 3 (4). Wiley: 214–215. doi:10.1111/j.1600-0536.1977.tb03655.x. ISSN 0105-1873. PMID 597388.
  74. ^ Maruyama, Tomohiro; Toyoda, Masahiko; Kanei, Akihiro; Morohashi, Masaaki (1994). "Pathogenesis in pili torti: morphological study". Journal of Dermatological Science. 7. Elsevier BV: S5–S12. doi:10.1016/0923-1811(94)90029-9. ISSN 0923-1811. PMID 7528051.
  75. ^ Olsen, Elise A. (2003). Disorders of Hair Growth (2 ed.). New York, NY, USA: McGraw-Hill. pp. 123–175. ISBN 978-0-07-136494-2. Retrieved 24 March 2024.
  76. ^ Gelles, Lisa N. (1999-06-01). "Picture of the Month". Archives of Pediatrics & Adolescent Medicine. 153 (6). American Medical Association (AMA): 647–648. doi:10.1001/archpedi.153.6.647. ISSN 1072-4710. PMID 10357309.
  77. ^ Ronchese, F. (1932-07-01). "Twisted Hairs (Pili Torti)". Archives of Dermatology. 26 (1): 98. doi:10.1001/archderm.1932.01450030101015. ISSN 0003-987X.

Further reading

[edit]
  • Sakamoto, Fumiko; Ito, Masaaki; Saito, Ryuzo (2002). "Ultrastructural Study of Acquired Pili Torti-like Hair Defects Accompanying Pseudopelade". The Journal of Dermatology. 29 (4): 197–201. doi:10.1111/j.1346-8138.2002.tb00249.x. ISSN 0385-2407. PMID 12027083.
  • Marubashi, Yuki; Yanagishita, Takeshi; Muto, Jun; Taguchi, Nobuhiko; Sugiura, Kazumitsu; Kawamoto, Yoshiyuki; Akiyama, Masashi; Watanabe, Daisuke (2016-11-24). "Morphological analyses in fragility of pili torti with Björnstad syndrome". The Journal of Dermatology. 44 (4). Wiley: 455–458. doi:10.1111/1346-8138.13700. ISSN 0385-2407. PMID 27882597.
[edit]
Retrieved from "https://en.wikipedia.org/w/index.php?title=Pili_torti&oldid=1248977751"