Abstract

Keratins are one of the main fluorophores of the skin. Keratinization disorders can lead to alterations in the optical properties of the skin. We set out to investigate a rare form of keratinopathic ichthyosis caused by KRT1 mutation with two different optical imaging methods. We used a newly developed light emitting diode (LED) based device to analyze autofluorescence signal at 405 nm excitation and diffuse reflectance at 526 nm in vivo. Mean autofluorescence intensity of the hyperkeratotic palmar skin was markedly higher in comparison to the healthy control (162.35 vs. 51.14). To further assess the skin status, we examined samples from affected skin areas ex vivo by nonlinear optical microscopy. Two-photon excited fluorescence and second-harmonic generation can visualize epidermal keratin and dermal collagen, respectively. We were able to visualize the structure of the epidermis and other skin changes caused by abnormal keratin formation. Taken together, we were able to show that such imaging modalities are useful for the diagnosis and follow-up of keratinopathic diseases.

Highlights

  • IntroductionKeratin 1 and 10 form heterodimers in the suprabasal post-mitotic keratinocytes

  • Keratins function as the main structural proteins of the keratinocyte cytoskeleton.Keratin 1 and 10 form heterodimers in the suprabasal post-mitotic keratinocytes

  • Autofluorescence imaging under narrow band light emitting diode (LED) excitation uses narrow spectral light of different wavelengths to determine the distribution of the endogenous fluorophores of the skin

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Summary

Introduction

Keratin 1 and 10 form heterodimers in the suprabasal post-mitotic keratinocytes. For these reasons, mutations of keratin genes lead to skin keratinization disorders. Keratins are one of the several endogenous fluorophores in the skin in addition to collagen, elastin, and tryptophan [3,4,5,6,7]. Autofluorescence imaging under narrow band light emitting diode (LED) excitation uses narrow spectral light of different wavelengths to determine the distribution of the endogenous fluorophores of the skin. NLM techniques including two-photon absorption fluorescence (TPF) and second-harmonic generation (SHG) can be utilized for the assessment of the skin with high tissue resolution. TPF allows the visualization of keratins, elastin, and melanin, whereas

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