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European Journal of Dermatology

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Squamous cell carcinoma and keratoacanthoma on the neck in a patient with hypohidrotic ectodermal dysplasia Volume 31, numéro 5, September-October 2021

Illustrations


  • Figure 1
Auteurs
1 Division of Dermatology, Shizuoka Cancer Center Hospital, Shizuoka, Japan
2 Department of Dermatology, Dokkyo Medical University Saitama Medical Center, Saitama, Japan
3 Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
4 Department of Dermatology, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan
5 Division of Head and Neck Surgery, Shizuoka Cancer Center Hospital, Shizuoka, Japan

Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder [1]. Most cases exhibit an X-linked recessive inheritance trait (Mendelian Inheritance in Man no. 305100) and are caused by mutations in the ectodyplasin-A (EDA) gene [2]. We report a case of HED, which harboured a novel mutation in EDA and presented with cutaneous squamous cell carcinoma (SCC).The patient was a 37-year-old Japanese man with a four-month history of two scaly nodules on his neck. He has never sweated since birth. [...]