Non-invasive Imaging of Netherton Syndrome with Reflectance Confocal Microscopy and Line-field Confocal Optical Coherence Tomography

Monika Jarowicz; Hubert Borzuta; Agnieszka Michalczyk; Joanna Czuwara; Anna Waśkiel-Burnat; Lidia Rudnicka

doi:10.5114/dr.2025.152651

eISSN: 2084-9893
ISSN: 0033-2526

Dermatology Review/Przegląd Dermatologiczny

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2/2025
vol. 112

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abstract:

Case report

Non-invasive Imaging of Netherton Syndrome with Reflectance Confocal Microscopy and Line-field Confocal Optical Coherence Tomography

Monika Jarowicz

¹

,

Hubert Borzuta

²

,

Agnieszka Michalczyk

¹

,

Joanna Czuwara

¹

,

Anna Waśkiel-Burnat

¹

,

Lidia Rudnicka

¹

Department of Dermatology, Medical University of Warsaw, Poland
Department of Experimental and Clinical Physiology, Preclinical Research Center, Medical University of Warsaw, Poland

Dermatol Rev/Przegl Dermatol 2025, 112, 112-119

DOI: https://doi.org/10.5114/dr.2025.152651

Online publish date: 2025/06/30

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AMA

Jarowicz M, Borzuta H, Michalczyk A, Czuwara J, Waśkiel-Burnat A, Rudnicka L. Non-invasive Imaging of Netherton Syndrome with Reflectance Confocal Microscopy and Line-field Confocal Optical Coherence Tomography. Dermatology Review/Przegląd Dermatologiczny. 2025;112(2):112-119. doi:10.5114/dr.2025.152651.

APA

Jarowicz, M., Borzuta, H., Michalczyk, A., Czuwara, J., Waśkiel-Burnat, A.,  & Rudnicka, L. (2025). Non-invasive Imaging of Netherton Syndrome with Reflectance Confocal Microscopy and Line-field Confocal Optical Coherence Tomography. Dermatology Review/Przegląd Dermatologiczny, 112(2), 112-119. https://doi.org/10.5114/dr.2025.152651

Chicago

Jarowicz, Monika, Hubert Borzuta, Agnieszka Michalczyk, Joanna Czuwara, Anna Waśkiel-Burnat,  and Lidia Rudnicka. 2025. "Non-invasive Imaging of Netherton Syndrome with Reflectance Confocal Microscopy and Line-field Confocal Optical Coherence Tomography". Dermatology Review/Przegląd Dermatologiczny 112 (2): 112-119. doi:10.5114/dr.2025.152651.

Harvard

Jarowicz, M., Borzuta, H., Michalczyk, A., Czuwara, J., Waśkiel-Burnat, A.,  and Rudnicka, L. (2025). Non-invasive Imaging of Netherton Syndrome with Reflectance Confocal Microscopy and Line-field Confocal Optical Coherence Tomography. Dermatology Review/Przegląd Dermatologiczny, 112(2), pp.112-119. https://doi.org/10.5114/dr.2025.152651

MLA

Jarowicz, Monika et al. "Non-invasive Imaging of Netherton Syndrome with Reflectance Confocal Microscopy and Line-field Confocal Optical Coherence Tomography." Dermatology Review/Przegląd Dermatologiczny, vol. 112, no. 2, 2025, pp. 112-119. doi:10.5114/dr.2025.152651.

Vancouver

Jarowicz M, Borzuta H, Michalczyk A, Czuwara J, Waśkiel-Burnat A, Rudnicka L. Non-invasive Imaging of Netherton Syndrome with Reflectance Confocal Microscopy and Line-field Confocal Optical Coherence Tomography. Dermatology Review/Przegląd Dermatologiczny. 2025;112(2):112-119. doi:10.5114/dr.2025.152651.

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Introduction:
Netherton syndrome is a genodermatosis caused by a mutation in the SPINK5 gene, which encodes serine protease inhibitor LEKTI. LEKTI deficiency overactivates kallikrein-related peptidases, causing epidermal and hair shaft keratinization abnormalities. The characteristic clinical triad includes congenital ichthyosiform erythroderma or ichthyosis linearis circumflexa, atopic diathesis and trichorrhexis invaginata.

Objective:
To demonstrate how reflectance confocal microscopy and line-field confocal optical coherence tomography support the diagnosis of Netherton syndrome.

Case report:
A 3-year-old girl presented with erythematous, polycyclic plaques with peripheral scaling located on the face, trunk, upper and lower extremities. Trichoscopy showed bamboo hairs and golf tee-like endings. Reflectance confocal microscopy and line-field confocal optical coherence tomography revealed scale, parakeratosis, acanthosis, spongiosis and perivascular inflammatory infiltrates, which were confirmed by histopathological examination.

Conclusions:
Trichoscopy, reflectance confocal microscopy and linefield confocal optical coherence tomography can facilitate the diagnosis of patients presenting with eczema-like lesions and brittle hair to identify Netherton syndrome. To our knowledge, this is the first line-field confocal optical coherence tomography documentation of Netherton syndrome.

keywords:

bamboo hair, trichoscopy, reflectance confocal microscopy, Netherton syndrome, line-field confocal optical coherence tomography

Indeks osobowy

Non-invasive Imaging of Netherton Syndrome with Reflectance Confocal Microscopy and Line-field Confocal Optical Coherence Tomography

Monika Jarowicz 1 , Hubert Borzuta 2 , Agnieszka Michalczyk 1 , Joanna Czuwara 1 , Anna Waśkiel-Burnat 1 , Lidia Rudnicka 1

bamboo hair, trichoscopy, reflectance confocal microscopy, Netherton syndrome, line-field confocal optical coherence tomography

Monika Jarowicz

¹

,

Hubert Borzuta

²

,

Agnieszka Michalczyk

¹

,

Joanna Czuwara

¹

,

Anna Waśkiel-Burnat

¹

,

Lidia Rudnicka

¹