Hair abnormality in Netherton syndrome observed under polarized light microscopy - 03/02/20

Doi : 10.1016/j.jaad.2019.08.024

Daisuke Utsumi, MD ^a, Masahito Yasuda, MD, PhD ^b, Hiroo Amano, MD, PhD ^b,^c, Yasushi Suga, MD, PhD ^d, Mariko Seishima, MD, PhD ^e, Kenzo Takahashi, MD, PhD ^a,^⁎
^a University of the Ryukyus, Graduate School of Medicine, Okinawa, Japan
^b Gunma University, Graduate School of Medicine, Okinawa, Gunma, Japan
^c Iwate Medical University, Okinawa, Iwate, Japan
^d Juntendo University, Urayasu Hospital, Okinawa, Chiba, Japan
^e Gifu University, Graduate School of Medicine, Gifu, Japan

^∗Reprint requests: Kenzo Takahashi, MD, PhD, Department of Dermatology, University of the Ryukyus, Graduate School of Medicine, 207 Uehara, Nishihara-cho, Nakagami-gun, Okinawa 903-0215, Japan.Department of DermatologyUniversity of the RyukyusGraduate School of Medicine207 Uehara, Nishihara-cho, Nakagami-gunOkinawa903-0215Japan

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Abstract

Background

Trichorrhexis invaginata, the main diagnostic feature of Netherton syndrome, is often difficult to detect, especially in adult patients.

Objective

We sought to describe a characteristic feature of hairs in Netherton syndrome using a polarized light microscope and the underlying histopathologic changes.

Methods

Hairs obtained from 8 patients with Netherton syndrome were observed under polarized light, and we evaluated the correlation between number of band-like patterns and disease severity.

Results

Under polarized microscopy, the hair shafts of 8 patients showed a characteristic band-like pattern under polarized light that was not observed in healthy control individuals or patients with atopic dermatitis. This discontinuity of polarized light shows a band-like pattern in which the bands mostly ranged from 0.1 to 1.0 mm in width. The observed ratio of this finding was significantly higher than that of trichorrhexis invaginata observed under light microscopy, and patients with severe dermatitis tended to have a higher ratio than those with less severe dermatitis.

Limitations

Comparative examination among other congenital ichthyoses was not performed.

Conclusions

A band-like pattern in hairs with polarized light microscopy can be seen in Netherton syndrome and may have potential utility as a diagnostic marker.

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Key words : diagnosis, Netherton syndrome, polarized light, polarized light microscopy, trichorrhexis invaginate

Abbreviations used : NS, TI

Plan

Materials and methods

Index case

Patients and hair samples

Light and polarized microscopy

Genetic analysis

Statistical analysis

Results

Observation by light and polarized microscopy

Comparison of polarized light discontinuity and TI

Histopathology

Discussion

	Funding sources: Supported by a Grant-in-Aid for Scientific Research to Dr Takahashi from the Ministry of Education, Culture, Sports, Science, and Technology of Japan.
	Conflicts of interest: None disclosed.