| Literature DB >> 25817126 |
Sumit Isharwal1, Juan Carlos Manivel2, Badrinath Konety3.
Abstract
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.Entities:
Mesh:
Year: 2015 PMID: 25817126 DOI: 10.1016/j.urology.2014.12.042
Source DB: PubMed Journal: Urology ISSN: 0090-4295 Impact factor: 2.649