Pili torti: Clinical findings, associated disorders, and new insights into mechanisms of hair twisting

Cutis

Volumn 84, Issue 3, 2009, Pages 143-147

  Mirmirani, Paradi ^a,b,c   Samimi, Sara S ^d   Mostow, Eliot ^e  

^a KAISER PERMANENTE MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e NORTHEAST OHIO MEDICAL UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CONGENITAL MALFORMATION; HAIR; HAIR DISEASE; HUMAN; INFANT; MALE; METHODOLOGY; MICROSCOPY; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY;

ABNORMALITIES, MULTIPLE; HAIR; HAIR DISEASES; HUMANS; INFANT; MALE; MICROSCOPY;

EID: 70350708340     PISSN: 00114162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Price V. Structural anomalies of the hair shaft: pili torti. In: Orfanos CE, Happle R, eds. Hair and Hair Diseases. Heidelberg, Berlin: Springer-Verlag; 1990: 384-390.
2. Whiting DA, Dy LC. Office diagnosis of hair shaft defects. Semin Cutan Med Surg. 2006;25:24-34.
3. Maruyama T, Toyoda M, Kanei A, et al. Pathogenesis in pili torti: morphological study. J Dermatol Sci. 1994; (suppl 7):S5-S12.
4. Whiting DA. Hair shaft defects. In: Olsen EA, ed. Disorders of Hair Growth: Diagnosis and Treatment. 2nd ed. New York, NY: McGraw Hill; 2003:123-175.
5. Ronchese F. Twisted hairs (pili torti). Arch Derm Syphilol. 1932;26:98-109.
6. Beare JM. Congenital pilar defect showing features of pili tori. Br J Dermatol. 1952;64:366-372.
7. Selvaag E. Pili torti and sensorineural hearing loss. a follow-up of Björnstad's original patients and a review of the literature. Eur J Dermatol. 2000;10:91-97.
8. Menkes JH. Kinky hair disease. Pediatrics. 1972;50: 181-183.
9. Menkes JH, Alter M, Steigleder GK, et al. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics. 1962;29:764-779.
10. Rapp RS, Hodgkin WE. Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies. J Med Genet. 1968;5:269-272.
11. Pinheiro M, Freire-Maia N. Trichodysplasia-xeroderma: an autosomal dominant condition. Clin Genet. 1987;31: 337-342.
12. Price VH, Odom RB, Ward WH, et al. Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol. 1980;116:1375-1384.
13. Hays SB, Camisa C. Acquired pili torti in two patients treated with synthetic retinoids. Cutis. 1985;35:466-468.
14. Sakamoto F, Ito M, Saito R. Ultrastructural study of acquired pili torti-like hair defects accompanying pseudopelade. J Dermatol. 2002;29:197-201.
15. Björnstad R. Pili torti and sensory-neural loss of hearing. Proc Fenno-Scand Ass Derm. 1965:3-12. Cited by: Selvaag E. Pili torti and sensorineural hearing loss. a follow-up of Björnstad's original patients and a review of the literature. Eur J Dermatol. 2000;10:91-97.
16. Hinson JT, Fantin VR, Schönberger J, et al. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. N Engl J Med. 2007;356:809-819.
17. De Meirleir L, Seneca S, Damis E, et al. Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. Am J Med Genet. 2003;121:126-131.
18. Visapää I, Fellman V, Vesa J, et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet. 2002;71: 863-876.
19. Vulpe C, Levinson B, Whitney S, et al. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet. 1993;3:7-13.
20. Rossi L, Lombardo MF, Ciriolo MR, et al. Mitochondrial dysfunction in neurodegenerative diseases associated with copper imbalance. Neurochem Res. 2004;29:493-504.