Current and Emerging Imaging Techniques for Neurofibromatosis Type 1-Associated Cutaneous Neurofibromas

Yingjoy Li; Jaishri O Blakeley; Ina Ly; Yemima Berman; Jonathan Lau; Pierre Wolkenstein; Christina Bergqvist; Wangcun Jia; Thomas E Milner; Nitesh Katta; Anthony J Durkin; Gordon T Kennedy; Rebecca Rowland; Carlos G Romo; Jane Fleming; Kristen M Kelly

doi:10.1016/j.jid.2023.03.1681

Current and Emerging Imaging Techniques for Neurofibromatosis Type 1-Associated Cutaneous Neurofibromas

J Invest Dermatol. 2023 Aug;143(8):1397-1405. doi: 10.1016/j.jid.2023.03.1681. Epub 2023 Jun 17.

Authors

Affiliations

¹ Department of Dermatology, School of Medicine, University of California, Irvine, California, USA.
² Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
³ Stephen E. and Catherine Pappas Center for Neuro-Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA.
⁴ Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, Australia.
⁵ Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, Australia; Sydney Medical School, The University of Sydney, Camperdown, Australia.
⁶ Faculty of Medicine and Health, Université Paris-Est Créteil Val de Marne, Créteil, France; Department of Dermatology, National Referral Center for Neurofibromatoses, Henri-Mondor Hospital, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.
⁷ Department of Dermatology, National Referral Center for Neurofibromatoses, Henri-Mondor Hospital, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.
⁸ Beckman Laser Institute & Medical Clinic, University of California, Irvine, California, USA.
⁹ Beckman Laser Institute & Medical Clinic, University of California, Irvine, California, USA; Department of Biomedical Engineering, University of California, Irvine, California, USA.
¹⁰ Department of Dermatology, School of Medicine, University of California, Irvine, California, USA; Beckman Laser Institute & Medical Clinic, University of California, Irvine, California, USA. Electronic address: kmkelly@hs.uci.edu.

PMID: 37330718
DOI: 10.1016/j.jid.2023.03.1681

Abstract

A consistent set of measurement techniques must be applied to reliably and reproducibly evaluate the efficacy of treatments for cutaneous neurofibromas (cNFs) in people with neurofibromatosis type 1 (NF1). cNFs are neurocutaneous tumors that are the most common tumor in people with NF1 and represent an area of unmet clinical need. This review presents the available data regarding approaches in use or development to identify, measure, and track cNFs, including calipers, digital imaging, and high-frequency ultrasound sonography. We also describe emerging technologies such as spatial frequency domain imaging and the application of imaging modalities such as optical coherence tomography that may enable the detection of early cNFs and prevention of tumor-associated morbidity.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Humans
Neurofibroma* / diagnostic imaging
Neurofibroma* / pathology
Neurofibromatosis 1* / diagnostic imaging
Skin Neoplasms* / diagnostic imaging
Skin Neoplasms* / pathology
Ultrasonography