Tags

Type your tag names separated by a space and hit enter

Morphological analyses in fragility of pili torti with Björnstad syndrome.
J Dermatol. 2017 Apr; 44(4):455-458.JD

Abstract

Pili torti is an extremely rare hair phenotype characterized by short length of hairs with hair shafts being easily broken. However, the mechanism of fragility in pili torti is unclear. In this study, we examined the underlying morphological features responsible for pili torti formation using transmission electron microscopy (TEM). We used pili torti samples from a patient with Björnstad syndrome and normal hairs from a healthy subject as a comparison. The macroscopic morphological features of the samples agreed with the results of a previous study showing that pili torti is twisted, flattened, thin and with partial trichorrhexis. Young's modulus of the samples was lower than that of normal hairs. Because the cross-sectional area of the pili torti samples was also smaller than that of normal hairs, it was clarified that the tensile strength of pili torti is 2.1-times lower than that of normal hair. Assessment of morphological features by TEM showed that the cuticle layers of the samples had wavy shapes with different thicknesses. Additionally, the cortex in the samples showed loose keratin intermediate filaments (IF). Our results suggested that these abnormalities in pili torti had already occurred below the infundibulum. Thus, the weakness of pili torti in tensile strength is thought to result from loose IF because of dysformation of disulfide bonds.

Authors+Show Affiliations

Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Japan. General Research and Development Institute, Hoyu, Nagakute, Japan.Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Japan.Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Japan.Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Japan. General Research and Development Institute, Hoyu, Nagakute, Japan.Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, Kasugai, Japan.Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Japan.

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

eng

PubMed ID

27882597

Citation

Marubashi, Yuki, et al. "Morphological Analyses in Fragility of Pili Torti With Björnstad Syndrome." The Journal of Dermatology, vol. 44, no. 4, 2017, pp. 455-458.
Marubashi Y, Yanagishita T, Muto J, et al. Morphological analyses in fragility of pili torti with Björnstad syndrome. J Dermatol. 2017;44(4):455-458.
Marubashi, Y., Yanagishita, T., Muto, J., Taguchi, N., Sugiura, K., Kawamoto, Y., Akiyama, M., & Watanabe, D. (2017). Morphological analyses in fragility of pili torti with Björnstad syndrome. The Journal of Dermatology, 44(4), 455-458. https://doi.org/10.1111/1346-8138.13700
Marubashi Y, et al. Morphological Analyses in Fragility of Pili Torti With Björnstad Syndrome. J Dermatol. 2017;44(4):455-458. PubMed PMID: 27882597.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Morphological analyses in fragility of pili torti with Björnstad syndrome. AU - Marubashi,Yuki, AU - Yanagishita,Takeshi, AU - Muto,Jun, AU - Taguchi,Nobuhiko, AU - Sugiura,Kazumitsu, AU - Kawamoto,Yoshiyuki, AU - Akiyama,Masashi, AU - Watanabe,Daisuke, Y1 - 2016/11/24/ PY - 2016/03/21/received PY - 2016/10/14/accepted PY - 2016/11/25/pubmed PY - 2017/9/15/medline PY - 2016/11/25/entrez KW - Björnstad syndrome KW - Young's modulus KW - fragility KW - keratin intermediate filaments KW - pili torti SP - 455 EP - 458 JF - The Journal of dermatology JO - J Dermatol VL - 44 IS - 4 N2 - Pili torti is an extremely rare hair phenotype characterized by short length of hairs with hair shafts being easily broken. However, the mechanism of fragility in pili torti is unclear. In this study, we examined the underlying morphological features responsible for pili torti formation using transmission electron microscopy (TEM). We used pili torti samples from a patient with Björnstad syndrome and normal hairs from a healthy subject as a comparison. The macroscopic morphological features of the samples agreed with the results of a previous study showing that pili torti is twisted, flattened, thin and with partial trichorrhexis. Young's modulus of the samples was lower than that of normal hairs. Because the cross-sectional area of the pili torti samples was also smaller than that of normal hairs, it was clarified that the tensile strength of pili torti is 2.1-times lower than that of normal hair. Assessment of morphological features by TEM showed that the cuticle layers of the samples had wavy shapes with different thicknesses. Additionally, the cortex in the samples showed loose keratin intermediate filaments (IF). Our results suggested that these abnormalities in pili torti had already occurred below the infundibulum. Thus, the weakness of pili torti in tensile strength is thought to result from loose IF because of dysformation of disulfide bonds. SN - 1346-8138 UR - https://wwww.unboundmedicine.com/medline/citation/27882597/Morphological_analyses_in_fragility_of_pili_torti_with_Björnstad_syndrome_ DB - PRIME DP - Unbound Medicine ER -