Abstract
Non-invasive Imaging of Netherton Syndrome with Reflectance Confocal Microscopy and Line-field Confocal Optical Coherence Tomography
- Department of Dermatology, Medical University of Warsaw, Poland
- Department of Experimental and Clinical Physiology, Preclinical Research Center, Medical University of Warsaw, Poland
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
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