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<p>Genodermatoses comprise a heterogeneous group of hereditary skin diseases, which are often characterized by fluctuating severity, incomplete penetrance, and age-related onset, and this makes them hard to identify and treat very early. Traditional dermatologic evaluation has still limited ability to evaluate subclinical disease or objective tracking treatment effects. High-frequency ultrasound has proved to be a non-invasive, reproducible imaging modality that can be used to visualize in detail the epidermis, the dermis and the hypodermis and detect some pathological changes that cannot be identified by clinical ex-amination. High-frequency ultrasound in combination with dermoscopy, reflectance confocal microscopy, and optical coherence tomography can improve disease diagnosis, and possibly objectively assess treatment result. This narrative review highlights the increasing role of ultrasound in genodermatoses.</p>

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High-frequency ultrasound in genodermatoses

  • 期刊论文

  • 发表日期：

    2026年3月9日

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  • Syed Muhammad Yousaf Farooq,
  • Corrado Tagliati,
  • Muhammad Moazzam,
  • Antonio Corvino,
  • Yasmeen Niazi,
  • Giulio Cocco,
  • Robert Krzysztof Mlosek,
  • Oriana Simonetti,
  • Muhammad Farrukh Asif,
  • Ximena Wortsman,
  • Saima Bilal

摘要

Genodermatoses comprise a heterogeneous group of hereditary skin diseases, which are often characterized by fluctuating severity, incomplete penetrance, and age-related onset, and this makes them hard to identify and treat very early. Traditional dermatologic evaluation has still limited ability to evaluate subclinical disease or objective tracking treatment effects. High-frequency ultrasound has proved to be a non-invasive, reproducible imaging modality that can be used to visualize in detail the epidermis, the dermis and the hypodermis and detect some pathological changes that cannot be identified by clinical ex-amination. High-frequency ultrasound in combination with dermoscopy, reflectance confocal microscopy, and optical coherence tomography can improve disease diagnosis, and possibly objectively assess treatment result. This narrative review highlights the increasing role of ultrasound in genodermatoses.