Cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis in a patient with X‐linked recessive Mendelian susceptibility to mycobacterial diseases with a nuclear factor‐κB essential modifier mutation. Issue 8 (24th May 2018)

• Record Type: Journal Article
• Authors: Inoue, Yuta; Shimizu, Akira; Suto, Mariko; Kishi, Chikako; Takahashi, Ayumi; Yasuda, Masahito; Iijima, Mayuko; Arakawa, Hirokazu; Ishikawa, Osamu
• Is Part Of: Journal of dermatology. Volume 45:Issue 8(2018)
• Page Start: 1017
• Page End: 1019
• Publication Date: 2018-05-24
• Subjects: mutation -- NEMO gene -- nuclear factor‐κB -- squamous cell carcinoma -- X‐linked recessive Mendelian susceptibility to mycobacterial diseases; Dermatology -- Periodicals; Dermatology -- Japan -- Periodicals; Skin -- Diseases -- Periodicals; 616.5005
• DOI: 10.1111/1346-8138.14482
• Languages: English
• ISSNs: 0385-2407

Abstract

Abstract: Nuclear factor (NF)‐κB essential modifier ( NEMO ), also known as IκB kinase subunit‐γ (IKKγ), is a pivotal molecule in the NF‐κB signaling pathway. Mutations of NEMO cause incontinentia pigmenti and X‐linked ectodermal dysplasia with immunodeficiency. Mendelian susceptibility to mycobacterial diseases (MSMD), which confers an almost selective predisposition to mycobacterial infection, is also caused by NEMO mutations. We herein report the first case of a patient with X‐linked recessive (XR) MSMD who developed cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis. The relationship between NEMO mutation and oncogenesis is discussed.