Clinical presentation of pili torti - Case report*

  title={Clinical presentation of pili torti - Case report*},
  author={Jeane Jeong Hoon Yang and Karine Valentim Cade and Fl{\'a}via Cury Rezende and Jos{\'e} Marcos Pereira and Jos{\'e} Roberto Pereira Pegas},
  journal={Anais Brasileiros de Dermatologia},
  pages={29 - 31}
Pili torti also known as 'twisted hairs' (Latin: pili=hair; torti=twisted) is a rare, congenital or acquired clinical presentation, in which the hair shaft is flattened at irregular intervals and twisted 180º along its axis. [] Key Method The patient had no comorbidities.

Figures from this paper

Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
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
Pili torti, pale and elastic skin, and severe neurological impairment
  • L. C. Gironi, C. Peruzzi, E. Colombo
  • Medicine
    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
  • 2018
A 7-month-old male Caucasian infant was presented for evaluation of congenital hair dysplasia with light-brown, opaque, fragile, thick, kinky hair. He also showed pale and elastic skin with redundant
Localized hair loss in infancy: a review
The data presented here will provide clinicians with the latest understanding of different disorders leading to localized hair loss and will provide recommendations for further management of infants who present with alopecia.
Pili torti, bleiche und elastische Haut sowie eine schwere neurologische Beeinträchtigung
Ein 7 Monate altes, männliches hellhäutiges Baby wurde zur Untersuchung einer angeborenen Haardysplasie vorstellig anderswo eine schwere neurologische Beeinträchtigung Pili torti, pale and elastic skin, and severe neurological impairment diagnosis.
Kinky Hair after FUE Technique: Case Report
  • Igor Bottura
  • Medicine
    International Society of Hair Restoration Surgery
  • 2020
I share this case that was presented during the M&M Session at the 2019 27th World Congress of the ISHRS held in Bangkok. A patient had persistent growth of tortuous hair in the recipient area after
Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy
The characteristic trichoscopic findings of erythrodermic CTCL are numerous pili torti , eight-shaped hairs, thick white interfollicular bands, color heterogeneity of the background and perifollicular arrangement of vessels.
Alopecia and hearing loss in a boy
This paper presents a poster presented at the 2016th session of the American Academy of Dermatology Congress, entitled “Preparatorymatology: Foundations of DermatoVenereology and Otolaryngology,” in Baltimore, USA.


Pili torti: clinical findings, associated disorders, and new insights into mechanisms of hair twisting.
Although pili torti may be isolated, it is commonly associated with other congenital defects and therefore, if identified, further evaluation for possible neurologic deficits and ectodermal disorders is an important part of the clinical evaluation.
The anomalies of development of the hair are characterized by hairs of irregular shape, which are more or less short and thin; in general, dry and brittle, and break at the slightest provocation out of the follicle or along the shaft.
Pathogenesis in pili torti: morphological study.
Structural Anomalies of the Hair Shaft
Hairshaft alterations may simply indicate excessive, harsh grooming, or may signal serious metabolic disorders in which the hair is an important diagnostic clue.
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
BCS1L mutations cause disease phenotypes ranging from highly restricted pili torti and sensorineural hearing loss to profound multisystem organ failure (complex III deficiency and the GRACILE syndrome), particularly to the production of reactive oxygen species.
Mitochondrial Dysfunction in Neurodegenerative Diseases Associated with Copper Imbalance
It is demonstrated that in copper deficiency, mitochondrial function is impaired due to decreased activity of cytochrome c oxidase, leading to production of reactive oxygen species, which in turn triggers mitochondria-mediated apoptotic neurodegeneration.
Hair shaft defects
  • Olsen EA, editor. Disorders of Hair Growth: Diagnosis and Treatment. 2nd ed
  • 2003
Atlas of Trichoscopy Dermoscopy
  • Atlas of Trichoscopy Dermoscopy
  • 2012
RevistaABDSuple1-n3Vol90ingles.indd 31 RevistaABDSuple1-n3Vol90ingles
  • RevistaABDSuple1-n3Vol90ingles.indd 31 RevistaABDSuple1-n3Vol90ingles
Atlas of Trichoscopy Dermoscopy. London: Ed
  • 2012