Netherton syndrome (NS) is a rare autosomal recessive skin disease with severe skin inflammation and scaling, a specific hair shaft defect (trichorrhexis invaginata or bamboo hair), and severe atopic manifestations including atopic dermatitis and hay fever with high serum immunoglobulin E levels and hypereosinophilia.
NS is caused by loss-of-function mutations in serine protease inhibitor of Kazal-type 5 (SPINK5) encoding lympho-epithelial Kazal-type-related inhibitor (LEKTI) expressed in the stratified epithelia. We report the first case of penile squamous cell carcinoma in a patient with NS.
Written by:
Isharwal S, Manivel JC, Konety B. Are you the author?
Department of Urology, University of Minnesota, Minneapolis, MN; Department of Pathology and Laboratory Medicine, Minneapolis Veterans Affairs Medical Center, Minneapolis, MN.
Reference: Urology. 2015 Apr;85(4):e21-2.
doi: 10.1016/j.urology.2014.12.042
PubMed Abstract
PMID: 25817126