Netherton syndrome is a rare hereditary disorder of keratinization. It was described by Comèl (1949) in 1949 and Netherton (1958) in 1958. The syndrome is sometimes called Comèl-Netherton syndrome (De Felipe et al. 1997). The incidence is about 1 in 200,000 (Bitoun et al. 2002b).
KeywordsPolysaccharide Brittle Disulfide Cardiomyopathy Psoriasis
- Berthold, E., Metze, D., Kogut, M., et al. (2016). Diagnostic criteria of Netherton syndrome using noninvasive reflectance confocal microscopy. Journal of German Society of Dermatology, 14, 519–521.Google Scholar
- Sprecher, E., Chavanas, S., DiGiovanna, J. J., et al. (2001). The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis. Journal of Investigative Dermatology, 117, 179–187.CrossRefPubMedGoogle Scholar