Abstract
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).
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Akkurt, Z. M., Tuncel, T., Ayhan, E., et al. (2014). Rapid and easy diagnosis of Netherton syndrome with dermoscopy. Journal of Cutaneous Medicine and Surgery, 18, 280–282.
Ansai, S., Itsuhashi, U., & Sasaki, K. (1999). Netherton's syndrome in siblings. British Journal of Dermatology, 141, 1097–1100.
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.
Bingol, B., Tasdemir, S., Gunnenc, Z., et al. (2011). Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article. Journal of Assisted Reproduction and Genetics, 28, 615–620.
Bitoun, E., Bodemer, C., Amiel, J., et al. (2002a). Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis. Prenatal Diagnosis, 22, 121–126.
Bitoun, E., Chavanas, S., Irvine, A. D., et al. (2002b). Netherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 families. Journal of Investigative Dermatology, 118, 352–361.
Bitoun, E., Micheloni, A., Lamant, L., et al. (2003). LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Human Molecular Genetics, 12, 2417–2430.
Bittencourt, M. J., Moure, E. R., Pies, O. T., et al. (2015). Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome. Anais Brasileiros de Dermatologia, 90, 114–116.
Burk, C., Hu, S., Lee, C., et al. (2008). Netherton syndrome and trichorrhexis invaginata-a novel diagnostic approach. Pediatric Dermatology, 25, 287–288.
Capezzera, R., Venturini, M., Bianchi, D., et al. (2004). UVA1 phototherapy of Netherton syndrome. Acta Dermato-Venereologica, 84, 69–70.
Chao, S. C., Tsai, Y. M., & Lee, J. Y. (2003). A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome. Journal of the Formosan Medical Association, 102, 418–423.
Chao, S. C., Richard, G., & Lee, J. Y. Y. (2005). Netherton syndrome: Report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5. British Journal of Dermatology, 152, 159–165.
Chavanas, S., Bodemer, C., Rochat, A., et al. (2000a). Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nature Genetics, 25, 141–142.
Chavanas, S., Garner, C., Bodemer, C., et al. (2000b). Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. American Journal of Human Genetics, 66, 914–921.
Comèl, M. (1949). Ichthyosis linearis circumflexa. Dermatologica, 98, 133–136.
Craiglow, B. G. (2013). Ichthyosis in the newborn. Seminars in Perinatology, 37, 26–31.
De Felipe, I., Vazquez-Doval, F. J., & Vicente, J. (1997). Comel-Netherton syndrome: A diagnostic challenge. British Journal of Dermatology, 137, 468–469.
Diociaiuti, A., Castiglia, D., Fortugno, P., et al. (2013). Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5. Pediatric Dermatology, 30, e65–e67.
Goujon, E., Beer, F., Fraitag, S., et al. (2010). ‘Matchstick’ eyebrow hairs: A dermoscopic clue to the diagnosis of Netherton syndrome. Journal of European Academy of Dermatology and Venereology, 24, 740–741.
Guerra, L., Fortugno, P., Sinistro, A., et al. (2015). Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review. Journal of Dermatology, 42, 786–794.
Hannula-Jouppi, K., Laasanen, S.-L., Ilander, M., et al. (2016). Intrafamily and interfamilial phenotype variation and immature immunity in patients with Netherton syndrome and Finnish SPINK5 founder mutation. JAMA Dermatology, 152, 435–442.
Hausser, I., & Anton-Lamprecht, I. (1996). Severe congenital generalized exfoliative erythroderma in newborns and infants: A possible sign of Netherton syndrome. Pediatric Dermatology, 13, 183–199.
Ito, M., Ito, K., & Hashimoto, K. (1984). Pathogenesis in trichorrhexis invaginata (bamboo hair). Journal of Investigative Dermatology, 83, 1–6.
Itoh, K., Kako, T., Suzuki, N., et al. (2015). Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT. Journal of Dermatology, 42, 1212–1214.
Jones, S. K., Thomasson, L. M., Surbrugg, S. K., et al. (1986). Neonatal hypernatraemia in two siblings with Netherton’s syndrome. British Journal of Dermatology, 114, 741–743.
Judge, M. R., Morgan, G., & Harper, J. I. (1994). A clinical and immunological study of Netherton’s syndrome. British Journal of Dermatology, 131, 615–621.
Kotzot, D., & Utermann, G. (2005). Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated. American Journal of Medical Genetics A, 136, 287–305.
Krasagakis, K., Ioannidou, D. J., Stephanidou, M., et al. (2003). Early development of multiple epithelial neoplasms in Netherton syndrome. Dermatology, 207, 182–184.
Lin, S. P., Huang, S. Y., Tu, M. E., et al. (2007). Netherton syndrome: mutation analysis of two Taiwanese families. Archives of Dermatology Research, 299, 145–150.
Lurie, R., & Garty, B. Z. (1995). Helical hairs: A new hair anomaly in a patient with Netherton’s syndrome. Cutis, 55, 349–352.
Müller, F. B., Hausser, I., Berg, D., et al. (2002). Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing. British Journal of Dermatology, 146, 495–499.
Netherton, E. W. (1958). A unique case of trichorrhexis invaginata ‘bamboo hair’. Archives of Dermatology, 78, 483–487.
Numata, S., Hamada, T., Teye, K., et al. (2014). Complete maternal isodisomy of chromosome 5 in a Japanese patient with Netherton syndrome. Journal of Investigative Dermatology, 134, 849–852.
Numata, S., Teye, K., Krol, R. P., et al. (2016). A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome. Experimental Dermatology, 25, 555–576.
Powell, J. (2000). Increasing the likelihood of early diagnosis of Netherton syndrome by simple examination of eyebrow hairs. Archives of Dermatology, 136, 423–424.
Rakowska, A., Kowalska-Oledzka, E., Slowinska, M., et al. (2009). Hair shaft videodermoscopy in Netherton syndrome. Pediatric Dermatology, 26, 320–322.
Rothnagel, J. A., Dominey, A. M., Dempsey, L. D., et al. (1992). Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science, 257, 1128–1130.
Sahari, S., Wollery-Lloyd, H., & Nouri, K. (2002). Squamous cell carcinoma in a patient with Netherton’s syndrome. British Journal of Dermatology, 144, 415–416.
Saif, G. B., & Al-Khenaizan, S. (2007). Netherton syndrome: Successful use of topical tacrolimus and pimecrolimus in four siblings. International Journal of Dermatology, 46, 290–294.
Shimomura, Y., Sata, N., Kariya, N., et al. (2005). Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: Immunohistochemical studies of LEKTI and other epidermal molecules. British Journal of Dermatology, 153, 1026–1030.
Small, A. M., & Cordoro, K. M. (2016). Netherton syndrome mimicking pustular psoriasis: Clinical implications and response to intravenous immunoglobulin. Pediatric Dermatology, 33, e222–e223.
Smith, D. L., Smith, J. G., Womg, S. W., et al. (1995). Netherton’s syndrome: A syndrome of elevated IgE and characteristic skin and hair findings. The Journal of Allergy and Clinical Immunology, 95, 116–123.
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.
Stevanovic, D. V. (1969). Multiple defects of the hair shaft in Netherton’s disease. British Journal of Dermatology, 81, 851–857.
Stoll, C., Alembik, Y., Tchomakov, D., et al. (2001). Severe hypernatremic dehydration in an infant with Netherton syndrome. Genetic Counseling, 12, 237–243.
Stryk, S., Siegfried, E. C., & Knutsen, A. P. (1999). Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome. Pediatric Dermatology, 16, 19–22.
Sun, J. D., & Linden, K. G. (2005). Netherton syndrome: A case report and review of the literature. International Journal of Dermatology, 45, 693–697.
Yoneda, K. (2016). Inherited ichthyosis: Syndromic forms. Journal of Dermatology, 43, 252–263.
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Chen, H. (2017). Netherton Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_175
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DOI: https://doi.org/10.1007/978-1-4939-2401-1_175
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