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'''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.<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}.</ref>{{rp|638}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|764}}<ref name="Bolognia">{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |isbn=1-4160-2999-0 }}</ref>
'''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.<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}.</ref>{{rp|638}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|764}}<ref name="Bolognia">{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |isbn=1-4160-2999-0 }}</ref>


== Signs and symptoms ==
This phenotype is noted in [[Menkes disease]] and [[Lichen planopilaris]]. Pili torti can also occur after use of [[retinoid]]s, such as [[isotretinoin]].
Clinically, the hair of individuals with pili torti is dry, coarse, brittle, and fragile. It could lead to patchy alopecia.<ref name="Feature of Numerous">{{cite journal | last=Hoffmann | first=Aleksandra | last2=Waśkiel-Burnat | first2=Anna | last3=Żółkiewicz | first3=Jakub | last4=Blicharz | first4=Leszek | last5=Rakowska | first5=Adriana | last6=Goldust | first6=Mohamad | last7=Olszewska | first7=Małgorzata | last8=Rudnicka | first8=Lidia | title=Pili Torti: A Feature of Numerous Congenital and Acquired Conditions | journal=Journal of Clinical Medicine | publisher=MDPI AG | volume=10 | issue=17 | date=2021-08-30 | issn=2077-0383 | doi=10.3390/jcm10173901 | doi-access=free | page=3901}}</ref> 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.<ref name="Trichoscopy">{{cite journal | last=Rudnicka | first=Lidia | last2=Olszewska | first2=Małgorzata | last3=Waśkiel | first3=Anna | last4=Rakowska | first4=Adriana | title=Trichoscopy in Hair Shaft Disorders | journal=Dermatologic Clinics | publisher=Elsevier BV | volume=36 | issue=4 | year=2018 | issn=0733-8635 | doi=10.1016/j.det.2018.05.009 | pages=421–430}}</ref> Typically, pili torti just impact a portion of the hair and do not alter the entire length of the hair.<ref name="genetic hair shaft">{{cite journal | last=Rakowska | first=Adriana | last2=Slowinska | first2=Monika | last3=Kowalska-Oledzka | first3=Elzbieta | last4=Rudnicka | first4=Lidia | title=Trichoscopy in genetic hair shaft abnormalities | journal=Journal of Dermatological Case Reports | publisher=Specjalisci Dermatolodzy | volume=2 | issue=2 | date=2008-07-07 | issn=1898-7249 | doi=10.3315/jdcr.2008.1009 | page=}}</ref> Occasionally, isolated pili torti might be discovered in a typical scalp. But it could be connected to a lot of regional and systemic issues.<ref name="Hypohidrotic Ectodermal Dysplasia">{{cite journal | last=Rouse | first=Christopher | last2=Siegfried | first2=Elaine | last3=Breer | first3=Wayne | last4=Nahass | first4=George | title=Hair and Sweat Glands in Families With Hypohidrotic Ectodermal Dysplasia | journal=Archives of Dermatology | publisher=American Medical Association (AMA) | volume=140 | issue=7 | date=2004-07-01 | issn=0003-987X | doi=10.1001/archderm.140.7.850 | page=}}</ref>


==See also==
== Causes ==
Uneven growth of the outer root sheath cells is the source of hair twisting in hereditary forms.<ref name="Feature of Numerous"/> 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.<ref name="morphological study">{{cite journal | last=Maruyama | first=Tomohiro | last2=Toyoda | first2=Masahiko | last3=Kanei | first3=Akihiro | last4=Morohashi | first4=Masaaki | title=Pathogenesis in pili torti: morphological study | journal=Journal of Dermatological Science | publisher=Elsevier BV | volume=7 | year=1994 | issn=0923-1811 | doi=10.1016/0923-1811(94)90029-9 | pages=S5–S12}}</ref> In acquired forms, the hair follicle is deformed and rotational forces are generated by a perifollicular inflammation followed by fibrosis.<ref name="Disorders of Hair Growth">{{cite book |last1=Olsen |first1=Elise A. |title=Disorders of Hair Growth |date=2003 |publisher=McGraw-Hill |location=New York, NY, USA |isbn=978-0-07-136494-2 |pages=123–175 |edition=2 |url=https://books.google.ca/books/about/Disorders_of_Hair_Growth.html?id=u_VsAAAAMAAJ&redir_esc=y |access-date=24 March 2024}}</ref>

== Diagnosis ==
=== Classifiction ===
Pili torti can be aqquired or inherited.<ref name="Feature of Numerous"/> 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.<ref name="Atlas of Trichoscopy"/>

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.<ref name="Atlas of Trichoscopy"/><ref name="Hair shaft abnormalities">{{cite journal | last=Rogers | first=Maureen | title=Hair shaft abnormalities: Part I | journal=Australasian Journal of Dermatology | publisher=Wiley | volume=36 | issue=4 | year=1995 | issn=0004-8380 | doi=10.1111/j.1440-0960.1995.tb00969.x | pages=179–184}}</ref>

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.<ref name="Atlas of Trichoscopy"/><ref name="Hair shaft abnormalities"/>

Pili torti can also be associated with other genetic conditions such as abnormal hair, joint laxity, and developmental delay,<ref name="Shapira Neish Pober 2024 p. ">{{cite journal | last=Shapira | first=S K | last2=Neish | first2=A S | last3=Pober | first3=B R | title=Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. | journal=Journal of Medical Genetics | publisher=BMJ Publishing Group | volume=29 | issue=7 | date=2024-03-14 | pmid=1379303 | url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016033/ | access-date=2024-03-24 | page=}}</ref><ref name="Sharma Reichert Lu Markello 2019 p. e1008143">{{cite journal | last=Sharma | first=Prashant | last2=Reichert | first2=Marie | last3=Lu | first3=Yan | last4=Markello | first4=Thomas C. | last5=Adams | first5=David R. | last6=Steinbach | first6=Peter J. | last7=Fuqua | first7=Brie K. | last8=Parisi | first8=Xenia | last9=Kaler | first9=Stephen G. | last10=Vulpe | first10=Christopher D. | last11=Anderson | first11=Gregory J. | last12=Gahl | first12=William A. | last13=Malicdan | first13=May Christine V. | title=Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype | journal=PLOS Genetics | publisher=Public Library of Science (PLoS) | volume=15 | issue=5 | date=2019-05-24 | issn=1553-7404 | doi=10.1371/journal.pgen.1008143 | doi-access=free | page=e1008143}}</ref> acrofacial dysostosis, Palagonia type,<ref name="G L A L p. ">{{cite journal | last=G | first=Sorge | last2=L | first2=Pavone | last3=A | first3=Polizzi | last4=L | first4=Mauceri | last5=RM | first5=Leonardi | last6=T | first6=Tripi | last7=JM | first7=Opitz | title=Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family | journal=American journal of medical genetics | publisher=Am J Med Genet | volume=69 | issue=4 | issn=0148-7299 | pmid=9098488 | doi=10.1002/(sici)1096-8628(19970414)69:4&lt;388::aid-ajmg10&gt;3.0.co;2-j | url=https://pubmed.ncbi.nlm.nih.gov/9098488/ | access-date=2024-03-24 | page=}}</ref> arginosuccinic aciduria,<ref name="Phillips Barrie Cream 1981 pp. 221–222">{{cite journal | last=Phillips | first=M E | last2=Barrie | first2=H | last3=Cream | first3=J J | title=Arginosuccinic Aciduria with Pili Torti | journal=Journal of the Royal Society of Medicine | publisher=SAGE Publications | volume=74 | issue=3 | year=1981 | issn=0141-0768 | doi=10.1177/014107688107400314 | pages=221–222}}</ref> autosomal recessive ichthyosis with hypotrichosis,<ref name="Basel-Vanagaite Attia Ishida-Yamamoto Rainshtein 2007 pp. 467–477">{{cite journal | last=Basel-Vanagaite | first=Lina | last2=Attia | first2=Revital | last3=Ishida-Yamamoto | first3=Akemi | last4=Rainshtein | first4=Limor | last5=Ben Amitai | first5=Dan | last6=Lurie | first6=Raziel | last7=Pasmanik-Chor | first7=Metsada | last8=Indelman | first8=Margarita | last9=Zvulunov | first9=Alex | last10=Saban | first10=Shirley | last11=Magal | first11=Nurit | last12=Sprecher | first12=Eli | last13=Shohat | first13=Mordechai | title=Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase | journal=The American Journal of Human Genetics | publisher=Elsevier BV | volume=80 | issue=3 | year=2007 | issn=0002-9297 | doi=10.1086/512487 | pages=467–477}}</ref> Bazex-Dupre-Christol syndrome,<ref name="Yung Newton-Bishop 2005 pp. 682–684">{{cite journal | last=Yung | first=A. | last2=Newton-Bishop | first2=J.A. | title=A case of Bazex-Dupré-Christol syndrome associated with multiple genital trichoepitheliomas | journal=British Journal of Dermatology | publisher=Oxford University Press (OUP) | volume=153 | issue=3 | date=2005-08-05 | issn=0007-0963 | doi=10.1111/j.1365-2133.2005.06819.x | pages=682–684}}</ref> Björnstad syndrome,<ref name="Richards Mancini 2002 pp. 301–303">{{cite journal | last=Richards | first=Kristen A. | last2=Mancini | first2=Anthony J. | title=Three members of a family with pili torti and sensorineural hearing loss: The Bjornstad syndrome | journal=Journal of the American Academy of Dermatology | publisher=Elsevier BV | volume=46 | issue=2 | year=2002 | issn=0190-9622 | doi=10.1067/mjd.2002.107969 | pages=301–303}}</ref><ref name="PETIT DONTENWILLE BLANCHET BARDON CIVATTE 1993 pp. 94–95">{{cite journal | last=PETIT | first=A. | last2=DONTENWILLE | first2=M.M. | last3=BLANCHET BARDON | first3=C. | last4=CIVATTE | first4=J. | title=Pili torti with congenital deafness (Bjornstad's syndrome)- report of three cases in one family, suggesting autosomal dominant transmission | journal=Clinical and Experimental Dermatology | publisher=Oxford University Press (OUP) | volume=18 | issue=1 | year=1993 | issn=0307-6938 | doi=10.1111/j.1365-2230.1993.tb00983.x | pages=94–95}}</ref> citrullinemia,<ref name="Patel Unis 1985 pp. 203–206">{{cite journal | last=Patel | first=Harish P. | last2=Unis | first2=Mark E. | title=Pili torti in association with citrullinemia | journal=Journal of the American Academy of Dermatology | publisher=Elsevier BV | volume=12 | issue=1 | year=1985 | issn=0190-9622 | doi=10.1016/s0190-9622(85)80018-9 | pages=203–206}}</ref> congenital disorder of glycosylation, type Ia,<ref name="Silengo Valenzise Pagliardini Spada 2003 pp. 114–115">{{cite journal | last=Silengo | first=Margherita | last2=Valenzise | first2=Mariella | last3=Pagliardini | first3=Severo | last4=Spada | first4=Marco | title=Hair changes in congenital disorders of glycosylation (CDG type 1) | journal=European Journal of Pediatrics | publisher=Springer Science and Business Media LLC | volume=162 | issue=2 | year=2003 | issn=0340-6199 | doi=10.1007/s00431-002-1054-1 | pages=114–115}}</ref> congenital erythropoietic porphyria,<ref name="congenital and acquired">{{cite journal |last1=Kurwa |first1=A R |last2=Abdel-Aziz |first2=A H |title=Pili torti-congenital and acquired |journal=Acta dermato-venereologica |date=1973 |volume=53 |issue=5 |pages=385–392 |pmid=4127474}}</ref> congenital hypotrichosis with juvenile macular dystrophy,<ref name="Hoeger Kinsler Yan Harper 2019 p. 2">{{cite book | last=Hoeger | first=P.H. | last2=Kinsler | first2=V. | last3=Yan | first3=A.C. | last4=Harper | first4=J. | last5=Oranje | first5=A.P. | last6=Bodemer | first6=C. | last7=Larralde | first7=M. | last8=Luk | first8=D. | last9=Mendiratta | first9=V. | last10=Purvis | first10=D. | title=Harper's Textbook of Pediatric Dermatology | publisher=Wiley | year=2019 | isbn=978-1-119-14280-5 | url=https://books.google.ca/books?id=-tbBDwAAQBAJ&pg=PP2 | access-date=2024-03-24 | page=2}}</ref> Conradi-Hünermann syndrome,<ref name="McMichael Hordinsky 2018 p. 8">{{cite book | last=McMichael | first=A.J. | last2=Hordinsky | first2=M.K. | title=Hair and Scalp Disorders: Medical, Surgical, and Cosmetic Treatments, Second Edition | publisher=CRC Press | year=2018 | isbn=978-1-351-16982-0 | url=https://books.google.ca/books?id=fdtdDwAAQBAJ&pg=PT8 | access-date=2024-03-24 | page=325}}</ref> Crandall syndrome,<ref name="Crandall Samec Sparkes Wright 1973 pp. 461–465">{{cite journal | last=Crandall | first=Barbara F. | last2=Samec | first2=Lawrence | last3=Sparkes | first3=Robert S. | last4=Wright | first4=Stanley W. | title=A familial syndrome of deafness, alopecia, and hypogonadism | journal=The Journal of Pediatrics | publisher=Elsevier BV | volume=82 | issue=3 | year=1973 | issn=0022-3476 | doi=10.1016/s0022-3476(73)80121-0 | pages=461–465}}</ref> giant axonal neuropathy,<ref name="Pilar dysplasia">{{cite journal |last1=Rybojad |first1=M |last2=Moraillon |first2=I |last3=Bonafé |first3=J L |last4=Cambon |first4=L |last5=Evrard |first5=P |title=Pilar dysplasia: an early marker of giant axonal neuropathy |journal=Annales de dermatologie et de venereologie |date=December 1998 |volume=125 |issue=12 |pages=892–893 |pmid=9922862 |language=French}}</ref> hypotrichosis 6,<ref name="Schaffer Bazzi Vitebsky Witkiewicz 2006 pp. 1286–1291">{{cite journal | last=Schaffer | first=Julie V. | last2=Bazzi | first2=Hisham | last3=Vitebsky | first3=Anna | last4=Witkiewicz | first4=Agnieszka | last5=Kovich | first5=Olympia I. | last6=Kamino | first6=Hideko | last7=Shapiro | first7=Lawrence S. | last8=Amin | first8=Snehal P. | last9=Orlow | first9=Seth J. | last10=Christiano | first10=Angela M. | title=Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions | journal=Journal of Investigative Dermatology | publisher=Elsevier BV | volume=126 | issue=6 | year=2006 | issn=0022-202X | doi=10.1038/sj.jid.5700237 | pages=1286–1291}}</ref><ref name="Zlotogorski Marek Horev Abu 2006 pp. 1292–1296">{{cite journal | last=Zlotogorski | first=Abraham | last2=Marek | first2=Dina | last3=Horev | first3=Liran | last4=Abu | first4=Almogit | last5=Ben-Amitai | first5=Dan | last6=Gerad | first6=Liora | last7=Ingber | first7=Arieh | last8=Frydman | first8=Moshe | last9=Reznik-Wolf | first9=Haike | last10=Vardy | first10=Daniel A. | last11=Pras | first11=Elon | title=An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis | journal=Journal of Investigative Dermatology | publisher=Elsevier BV | volume=126 | issue=6 | year=2006 | issn=0022-202X | doi=10.1038/sj.jid.5700251 | pages=1292–1296}}</ref> Laron syndrome,<ref name="Lurie Ben-Amitai Laron 2004 pp. 314–318">{{cite journal | last=Lurie | first=R. | last2=Ben-Amitai | first2=D. | last3=Laron | first3=Z. | title=Laron Syndrome (Primary Growth Hormone Insensitivity): A Unique Model to Explore the Effect of Insulin-Like Growth Factor 1 Deficiency on Human Hair | journal=Dermatology | publisher=S. Karger AG | volume=208 | issue=4 | year=2004 | issn=1018-8665 | doi=10.1159/000077839 | pages=314–318}}</ref> Marie Unna hypotrichosis,<ref name="Marie Unna">{{cite journal |last1=Spiegl |first1=B |last2=Hundeiker |first2=M |title=Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna) |journal=Fortschritte der Medizin |date=November 1979 |volume=97 |issue=44 |pages=2018–2022 |pmid=511082 |language=German}}</ref> McCune-Albright syndrome,<ref name="McCune-Albright syndrome">{{cite journal |last1=Pierini |first1=A M |last2=Ortonne |first2=J P |last3=Floret |first3=D |title=Cutaneous manifestations of McCune-Albright syndrome: report of a case |journal=Annales de dermatologie et de venereologie |date=1981 |volume=108 |issue=12 |pages=969–976. |pmid=7337370 |language=French}}</ref> Menkes disease,<ref name="Yang Cade Rezende Pereira 2015 pp. 29–31">{{cite journal | last=Yang | first=Jeane Jeong Hoon | last2=Cade | first2=Karine Valentim | last3=Rezende | first3=Flavia Cury | last4=Pereira | first4=José Marcos | last5=Pegas | first5=José Roberto Pereira | title=Clinical presentation of pili torti - Case report | journal=Anais Brasileiros de Dermatologia | publisher=FapUNIFESP (SciELO) | volume=90 | issue=3 suppl 1 | year=2015 | issn=0365-0596 | doi=10.1590/abd1806-4841.20153540 | pages=29–31}}</ref> mitochondrial diseases,<ref name="Bodemer Rötig Rustin Cormier 1999 pp. 428–433">{{cite journal | last=Bodemer | first=Christine | last2=Rötig | first2=Agnès | last3=Rustin | first3=Pierre | last4=Cormier | first4=Valerie | last5=Niaudet | first5=Patrick | last6=Saudubray | first6=Jean-Marie | last7=Rabier | first7=Denis | last8=Munnich | first8=Arnold | last9=de Prost | first9=Yves | title=Hair and Skin Disorders as Signs of Mitochondrial Disease | journal=Pediatrics | publisher=American Academy of Pediatrics (AAP) | volume=103 | issue=2 | date=1999-02-01 | issn=1098-4275 | doi=10.1542/peds.103.2.428 | pages=428–433}}</ref> Netherton syndrome,<ref name="Shanmukhappa Kharge Shivaram Budamakuntala 2016 p. 294">{{cite journal | last=Shanmukhappa | first=AshaGowrappala | last2=Kharge | first2=Priyadarshini | last3=Shivaram | first3=Bhumika | last4=Budamakuntala | first4=Leelavathy | title=Comèl–Netherton's syndrome in siblings | journal=Indian Journal of Paediatric Dermatology | volume=17 | issue=4 | date=2016 | issn=2319-7250 | doi=10.4103/2319-7250.184332 | doi-access=free | page=294}}</ref><ref name="Srinivas Hiremagalore Suryanarayan Budamakuntala 2013 p. 225">{{cite journal | last=Srinivas | first=SahanaM | last2=Hiremagalore | first2=Ravi | last3=Suryanarayan | first3=Swetha | last4=Budamakuntala | first4=Leelavathy | title=Netherton syndrome with pili torti | journal=International Journal of Trichology | publisher=Medknow | volume=5 | issue=4 | year=2013 | issn=0974-7753 | doi=10.4103/0974-7753.130424 | doi-access=free | page=225}}</ref> occipital horn syndrome,<ref name="Ronce Moizard Robb Toutain 1997 pp. 233–238">{{cite journal | last=Ronce | first=Nathalie | last2=Moizard | first2=Marie-Pierre | last3=Robb | first3=Laura | last4=Toutain | first4=Annick | last5=Villard | first5=Laurent | last6=Moraine | first6=Claude | title=A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family | journal=The American Journal of Human Genetics | publisher=Elsevier BV | volume=61 | issue=1 | year=1997 | issn=0002-9297 | doi=10.1016/s0002-9297(07)64297-9 | pages=233–238}}</ref> Olmsted syndrome,<ref name="Mevorah Goldberg Sprecher Bergman 2005 pp. S266–S272">{{cite journal | last=Mevorah | first=Baruch | last2=Goldberg | first2=Ilan | last3=Sprecher | first3=Eli | last4=Bergman | first4=Reuven | last5=Metzker | first5=Arieh | last6=Luria | first6=Raziel | last7=Gat | first7=Andrea | last8=Brenner | first8=Sarah | title=Olmsted syndrome | journal=Journal of the American Academy of Dermatology | publisher=Elsevier BV | volume=53 | issue=5 | year=2005 | issn=0190-9622 | doi=10.1016/j.jaad.2005.03.036 | pages=S266–S272}}</ref> peeling skin syndrome,<ref name="Mevorah Orion de Viragh Bergman 1998 pp. 373–376">{{cite journal | last=Mevorah | first=B. | last2=Orion | first2=E. | last3=de Viragh | first3=P. | last4=Bergman | first4=R. | last5=Gat | first5=A. | last6=Legume | first6=C. | last7=van Neste | first7=D.J.J. | last8=Brenner | first8=S. | title=Peeling Skin Syndrome with Hair Changes | journal=Dermatology | publisher=S. Karger AG | volume=197 | issue=4 | year=1998 | issn=1018-8665 | doi=10.1159/000018034 | pages=373–376}}</ref> Salti-Salem syndrome,<ref name="Miteva Tosti 2013 pp. 473–481">{{cite journal | last=Miteva | first=Mariya | last2=Tosti | first2=Antonella | title=Dermatoscopy of hair shaft disorders | journal=Journal of the American Academy of Dermatology | publisher=Elsevier BV | volume=68 | issue=3 | year=2013 | issn=0190-9622 | doi=10.1016/j.jaad.2012.06.041 | pages=473–481}}</ref> steatocystoma multiplex,<ref name="Pietrzak Bartosinska Filip Rakowska 2015 pp. 521–523">{{cite journal | last=Pietrzak | first=Aldona | last2=Bartosinska | first2=Joanna | last3=Filip | first3=Agata A. | last4=Rakowska | first4=Adriana | last5=Adamczyk | first5=Michal | last6=Szumilo | first6=Justyna | last7=Kanitakis | first7=Jean | title=Steatocystoma multiplex with hair shaft abnormalities | journal=The Journal of Dermatology | publisher=Wiley | volume=42 | issue=5 | date=2015-03-21 | issn=0385-2407 | doi=10.1111/1346-8138.12837 | pages=521–523}}</ref> tricho-hepato-enteric syndrome,<ref name="Goulet Vinson Roquelaure Brousse 2008 p. ">{{cite journal | last=Goulet | first=Olivier | last2=Vinson | first2=Christine | last3=Roquelaure | first3=Bertrand | last4=Brousse | first4=Nicole | last5=Bodemer | first5=Christine | last6=Cézard | first6=Jean-Pierre | title=Syndromic (phenotypic) diarrhea in early infancy | journal=Orphanet Journal of Rare Diseases | publisher=Springer Science and Business Media LLC | volume=3 | issue=1 | date=2008-02-28 | issn=1750-1172 | doi=10.1186/1750-1172-3-6 | doi-access=free | page=}}</ref> and trichothiodystrophy, photosensitive.<ref name="Tay 1971 p. 4">{{cite journal | last=Tay | first=Chong Hai | title=Ichthyosiform Erythroderma, Hair Shaft Abnormalities, and Mental and Growth Retardation: A New Recessive Disorder | journal=Archives of Dermatology | volume=104 | issue=1 | date=1971-07-01 | issn=0003-987X | doi=10.1001/archderm.1971.04000190006002 | page=4}}</ref><ref name="Botta Nardo Broughton Marinoni 1998 pp. 1036–1048">{{cite journal | last=Botta | first=Elena | last2=Nardo | first2=Tiziana | last3=Broughton | first3=Bernard C. | last4=Marinoni | first4=Stefano | last5=Lehmann | first5=Alan R. | last6=Stefanini | first6=Miria | title=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 | journal=The American Journal of Human Genetics | publisher=Elsevier BV | volume=63 | issue=4 | year=1998 | issn=0002-9297 | doi=10.1086/302063 | pages=1036–1048}}</ref>

== History ==
In 1932, Ronchese and Galewsky separately published the first descriptions of pili torti, also referred to as "twisted hair."<ref name="Ronchese 1932">{{cite journal | last=Ronchese | first=F. | title=TWISTED HAIRS (PILI TORTI) | journal=Archives of Dermatology | volume=26 | issue=1 | date=1932-07-01 | issn=0003-987X | doi=10.1001/archderm.1932.01450030101015 | page=98}}</ref><ref name="Atlas of Trichoscopy">{{cite book | last=Rudnicka | first=L. | last2=Olszewska | first2=M. | last3=Rakowska | first3=A. | title=Atlas of Trichoscopy: Dermoscopy in Hair and Scalp Disease | publisher=Springer London | year=2012 | isbn=978-1-4471-4486-1 |url=https://books.google.ca/books?id=oNdm2o19jG0C&pg=PR3 | access-date=2024-03-24 | page=167}}</ref>

== See also ==
* [[List of cutaneous conditions]]
* [[List of cutaneous conditions]]
* [[Crandall syndrome]]
* [[Crandall syndrome]]


==References==
== References ==
{{reflist}}
{{reflist}}
== External links ==
== External links ==
{{Medical resources
{{Medical resources
| DiseasesDB = 29682
| DiseasesDB = 29682
| ICD10 = {{ICD10|Q|84|1|q|80}} ([[ILDS]] Q84.120)
| ICD10 = {{ICD10|Q|84|1|q|80}} ([[ILDS]] Q84.120)
| ICD9 =
| ICD9 =
| ICDO =
| ICDO =

Revision as of 00:58, 24 March 2024

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]

Signs and symptoms

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

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.[8] In acquired forms, the hair follicle is deformed and rotational forces are generated by a perifollicular inflammation followed by fibrosis.[9]

Diagnosis

Classifiction

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.[10]

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.[10][11]

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.[10][11]

Pili torti can also be associated with other genetic conditions such as abnormal hair, joint laxity, and developmental delay,[12][13] acrofacial dysostosis, Palagonia type,[14] arginosuccinic aciduria,[15] autosomal recessive ichthyosis with hypotrichosis,[16] Bazex-Dupre-Christol syndrome,[17] Björnstad syndrome,[18][19] citrullinemia,[20] congenital disorder of glycosylation, type Ia,[21] congenital erythropoietic porphyria,[22] congenital hypotrichosis with juvenile macular dystrophy,[23] Conradi-Hünermann syndrome,[24] Crandall syndrome,[25] giant axonal neuropathy,[26] hypotrichosis 6,[27][28] Laron syndrome,[29] Marie Unna hypotrichosis,[30] McCune-Albright syndrome,[31] Menkes disease,[32] mitochondrial diseases,[33] Netherton syndrome,[34][35] occipital horn syndrome,[36] Olmsted syndrome,[37] peeling skin syndrome,[38] Salti-Salem syndrome,[39] steatocystoma multiplex,[40] tricho-hepato-enteric syndrome,[41] and trichothiodystrophy, photosensitive.[42][43]

History

In 1932, Ronchese and Galewsky separately published the first descriptions of pili torti, also referred to as "twisted hair."[44][10]

See also

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.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
  4. ^ a b c 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.
  5. ^ 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.
  6. ^ 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. doi:10.3315/jdcr.2008.1009. ISSN 1898-7249.
  7. ^ 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). doi:10.1001/archderm.140.7.850. ISSN 0003-987X.
  8. ^ 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.
  9. ^ 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.
  10. ^ a b c d 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.
  11. ^ 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.
  12. ^ 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. PMID 1379303. Retrieved 2024-03-24.
  13. ^ 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.
  14. ^ G, Sorge; L, Pavone; A, Polizzi; L, Mauceri; RM, Leonardi; T, Tripi; JM, Opitz. "Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family". American journal of medical genetics. 69 (4). Am J Med Genet. doi:10.1002/(sici)1096-8628(19970414)69:4&lt;388::aid-ajmg10&gt;3.0.co;2-j. ISSN 0148-7299. PMID 9098488. Retrieved 2024-03-24.
  15. ^ 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.
  16. ^ 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.
  17. ^ 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.
  18. ^ 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.
  19. ^ 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.
  20. ^ 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.
  21. ^ 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.
  22. ^ Kurwa, A R; Abdel-Aziz, A H (1973). "Pili torti-congenital and acquired". Acta dermato-venereologica. 53 (5): 385–392. PMID 4127474.
  23. ^ 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.
  24. ^ 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.
  25. ^ 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.
  26. ^ 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.
  27. ^ 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.
  28. ^ 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.
  29. ^ 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.
  30. ^ 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.
  31. ^ 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.
  32. ^ 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.
  33. ^ 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.
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  36. ^ 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.
  37. ^ 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.
  38. ^ 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.
  39. ^ 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.
  40. ^ 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.
  41. ^ 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. doi:10.1186/1750-1172-3-6. ISSN 1750-1172.
  42. ^ 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. doi:10.1001/archderm.1971.04000190006002. ISSN 0003-987X.
  43. ^ 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.
  44. ^ Ronchese, F. (1932-07-01). "TWISTED HAIRS (PILI TORTI)". Archives of Dermatology. 26 (1): 98. doi:10.1001/archderm.1932.01450030101015. ISSN 0003-987X.

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