Non-invasive Imaging of Netherton Syndrome with Reflectance Confocal Microscopy and Line-field Confocal Optical Coherence Tomography
Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Dermatology Review
Institution: Medical University of Warsaw
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4412584520