Detection of Epidermal Thickening in<i>GJB2</i>Carriers with Epidermal US

Guastalla, Pierpaolo; Guerci, Veronica Ileana; Fabretto, Antonella; Faletra, Flavio; Grasso, Domenico Leonardo; Zocconi, Elisabetta; Stefanidou, Despina; D’Adamo, Pio; Ronfani, Luca; Montico, Marcella; Morgutti, Marcello; Gasparini, Paolo

doi:10.1148/radiol.2511080912

Cited by 20 publications

(19 citation statements)

References 16 publications

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“…This might indicate some redundancy between the connexins for their normal function in the skin, which is supported by the association of loss-of-function mutations of GJB2 and GJB6 (encoding Cx26 and Cx30, respectively) with non-syndromic autosomal recessive sensorineural hearing loss without a dermatological condition (Scott and Kelsell, 2011). However, carriers of the common recessive deafness-associated GJB2 mutations 35delG and R143W have been reported to exhibit a normal but slightly thicker epidermis Guastalla et al, 2009). In vitro studies, using three-dimensional (3D) skin culture models, support these histological and ultrasound observations, and suggest that loss of functional Cx26 might confer improved barrier function in the skin (and also in the gut), with increased protection from bacterial infection (Man et al, 2007;Simpson et al, 2013).…”

Section: The Importance Of Gap Junctionsmentioning

confidence: 94%

Defective channels lead to an impaired skin barrier

Blaydon¹,

Kelsell²

2014

Journal of Cell Science

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Channels are integral membrane proteins that form a pore, allowing the passive movement of ions or molecules across a membrane (along a gradient), either between compartments within a cell, between intracellular and extracellular environments or between adjacent cells. The ability of cells to communicate with one another and with their environment is a crucial part of the normal physiology of a tissue that allows it to carry out its function. Cell communication is particularly important during keratinocyte differentiation and formation of the skin barrier. Keratinocytes in the skin epidermis undergo a programme of apoptosis-driven terminal differentiation, whereby proliferating keratinocytes in the basal (deepest) layer of the epidermis stop proliferating, exit the basal layer and move up through the spinous and granular layers of the epidermis to form the stratum corneum, the external barrier. Genes encoding different families of channel proteins have been found to harbour mutations linked to a variety of rare inherited monogenic skin diseases. In this Commentary, we discuss how human genetic findings in aquaporin (AQP) and transient receptor potential (TRP) channels reveal different mechanisms by which these channel proteins function to ensure the proper formation and maintenance of the skin barrier.

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Section: The Importance Of Gap Junctionsmentioning

confidence: 94%

Defective channels lead to an impaired skin barrier

Blaydon¹,

Kelsell²

2014

Journal of Cell Science

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“…However, this invasive and destructive technique can be painful. Alternatively, non-invasive measurements of epidermal thickness can be made with techniques such as optical coherent tomography or ultrasound [41,42]. However, these techniques are primarily sensitive to scattering of light and sound, respectively, by the tissue's macrostructures and therefore cannot be used to determine the tissue's chromophore concentration(s) easily [43,44].…”

Section: Reflectance Spectroscopy Of Human Skinmentioning

confidence: 99%

Retrieving skin properties from in vivo spectral reflectance measurements

Yudovsky

Pilon

2011

Journal of Biophotonics

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A previously developed inverse method was applied to in vivo normal-hemispherical spectral reflectance measurements taken on the inner and outer forearm as well as the forehead of healthy white Caucasian and black African subjects. The inverse method was used to determine the thickness and melanin concentration in the epidermis, dermal blood volume fraction and oxygen saturation, and skin's spectral scattering coefficient. It was established that changes in melanin concentration due to racial difference and tanning, and differences in epidermal thickness and blood volume with anatomical location were detectable. The retrieved values were also consistent with independent measurements reported in the literature. The same method could be used for optical diagnosis of pathologies affecting the structure and pigmentation of human skin.

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“…This invasive technique can be painful and destroys the sample. Alternatively, non-invasive measurements of epidermal thickness can be made with techniques such as optical coherent tomograph or ultrasound [58,59]. However, these techniques are primarily sensitive to the tissue's scattering coefficient therefore simultaneous determination of chromophore concentration is difficult [60,61].…”

Section: Skin Properties Measurementmentioning

confidence: 99%

Rapid and accurate estimation of blood saturation, melanin content, and epidermis thickness from spectral diffuse reflectance

Yudovsky

Pilon

2010

Appl. Opt.

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This paper presents a method to determine chromophore concentrations, blood saturation, and epidermal thickness of human skin from diffuse reflectance spectra. Human skin was approximated as a plane-parallel slab of variable thickness supported by a semi-infinite layer corresponding to the epidermis and dermis, respectively. The absorption coefficient was modeled as a function of melanin content for the epidermis and blood content and oxygen saturation for the dermis. The scattering coefficient and refractive index of each layer were found in the literature. Diffuse reflectance spectra between 490 and 620 nm were generated using Monte Carlo simulations for a wide range of melanosome volume fraction, epidermal thickness, blood volume, and oxygen saturation. Then, an inverse method was developed to retrieve these physiologically meaningful parameters from the simulated diffuse reflectance spectra of skin. A previously developed accurate and efficient semi-empirical model for diffuse reflectance of two layered media was used instead of time-consuming Monte Carlo simulations. All parameters could be estimated with relative root mean squared error less than 5% for (i) melanosome volume fraction ranging from 1 to 8%, (ii) epidermal thickness from 20 to 150 µm, (iii) oxygen saturation from 25 to 100%, (iv) blood volume from 1.2 to 10%, and (v) tissue scattering coefficient typical of human skin in the visible part of the 1 spectrum. Similar approach could be extended to other two-layer absorbing and scattering system.

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Detection of Epidermal Thickening inGJB2Carriers with Epidermal US

Abstract: Epidermal thickening in the white population owing to GJB2 carrier status can be detected by using US. This measurement could provide a simple, noninvasive, rapid, and sensitive test for carrier screening.

Cited by 20 publications

References 16 publications

Defective channels lead to an impaired skin barrier

Defective channels lead to an impaired skin barrier

Retrieving skin properties from in vivo spectral reflectance measurements

Rapid and accurate estimation of blood saturation, melanin content, and epidermis thickness from spectral diffuse reflectance

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