Netherton Syndrome

Living reference work entry

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).

Keywords

Polysaccharide Brittle Disulfide Cardiomyopathy Psoriasis 

References

  1. 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.CrossRefGoogle Scholar
  2. Ansai, S., Itsuhashi, U., & Sasaki, K. (1999). Netherton's syndrome in siblings. British Journal of Dermatology, 141, 1097–1100.CrossRefPubMedGoogle Scholar
  3. 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
  4. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 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.CrossRefPubMedGoogle Scholar
  6. 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.CrossRefPubMedGoogle Scholar
  7. 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.CrossRefPubMedGoogle Scholar
  8. 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.CrossRefPubMedCentralGoogle Scholar
  9. Burk, C., Hu, S., Lee, C., et al. (2008). Netherton syndrome and trichorrhexis invaginata-a novel diagnostic approach. Pediatric Dermatology, 25, 287–288.CrossRefPubMedGoogle Scholar
  10. Capezzera, R., Venturini, M., Bianchi, D., et al. (2004). UVA1 phototherapy of Netherton syndrome. Acta Dermato-Venereologica, 84, 69–70.CrossRefPubMedGoogle Scholar
  11. 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.PubMedGoogle Scholar
  12. 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.CrossRefPubMedGoogle Scholar
  13. 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.CrossRefPubMedGoogle Scholar
  14. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  15. Comèl, M. (1949). Ichthyosis linearis circumflexa. Dermatologica, 98, 133–136.CrossRefPubMedGoogle Scholar
  16. Craiglow, B. G. (2013). Ichthyosis in the newborn. Seminars in Perinatology, 37, 26–31.CrossRefPubMedPubMedCentralGoogle Scholar
  17. De Felipe, I., Vazquez-Doval, F. J., & Vicente, J. (1997). Comel-Netherton syndrome: A diagnostic challenge. British Journal of Dermatology, 137, 468–469.CrossRefPubMedGoogle Scholar
  18. 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.CrossRefPubMedGoogle Scholar
  19. 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.CrossRefGoogle Scholar
  20. 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.CrossRefPubMedGoogle Scholar
  21. 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.CrossRefPubMedGoogle Scholar
  22. 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.CrossRefPubMedGoogle Scholar
  23. Ito, M., Ito, K., & Hashimoto, K. (1984). Pathogenesis in trichorrhexis invaginata (bamboo hair). Journal of Investigative Dermatology, 83, 1–6.CrossRefPubMedGoogle Scholar
  24. 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.CrossRefPubMedGoogle Scholar
  25. 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.CrossRefPubMedGoogle Scholar
  26. 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.CrossRefPubMedGoogle Scholar
  27. Kotzot, D., & Utermann, G. (2005). Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated. American Journal of Medical Genetics A, 136, 287–305.CrossRefGoogle Scholar
  28. Krasagakis, K., Ioannidou, D. J., Stephanidou, M., et al. (2003). Early development of multiple epithelial neoplasms in Netherton syndrome. Dermatology, 207, 182–184.CrossRefPubMedGoogle Scholar
  29. 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.CrossRefGoogle Scholar
  30. Lurie, R., & Garty, B. Z. (1995). Helical hairs: A new hair anomaly in a patient with Netherton’s syndrome. Cutis, 55, 349–352.PubMedGoogle Scholar
  31. 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.CrossRefPubMedGoogle Scholar
  32. Netherton, E. W. (1958). A unique case of trichorrhexis invaginata ‘bamboo hair’. Archives of Dermatology, 78, 483–487.CrossRefPubMedGoogle Scholar
  33. 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.CrossRefPubMedGoogle Scholar
  34. 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.CrossRefGoogle Scholar
  35. Powell, J. (2000). Increasing the likelihood of early diagnosis of Netherton syndrome by simple examination of eyebrow hairs. Archives of Dermatology, 136, 423–424.CrossRefPubMedGoogle Scholar
  36. Rakowska, A., Kowalska-Oledzka, E., Slowinska, M., et al. (2009). Hair shaft videodermoscopy in Netherton syndrome. Pediatric Dermatology, 26, 320–322.CrossRefPubMedGoogle Scholar
  37. 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.CrossRefPubMedGoogle Scholar
  38. 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.CrossRefGoogle Scholar
  39. 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.CrossRefGoogle Scholar
  40. 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.CrossRefPubMedGoogle Scholar
  41. Small, A. M., & Cordoro, K. M. (2016). Netherton syndrome mimicking pustular psoriasis: Clinical implications and response to intravenous immunoglobulin. Pediatric Dermatology, 33, e222–e223.CrossRefPubMedGoogle Scholar
  42. 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.CrossRefPubMedGoogle Scholar
  43. 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
  44. Stevanovic, D. V. (1969). Multiple defects of the hair shaft in Netherton’s disease. British Journal of Dermatology, 81, 851–857.CrossRefPubMedGoogle Scholar
  45. Stoll, C., Alembik, Y., Tchomakov, D., et al. (2001). Severe hypernatremic dehydration in an infant with Netherton syndrome. Genetic Counseling, 12, 237–243.PubMedGoogle Scholar
  46. 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.CrossRefPubMedGoogle Scholar
  47. Sun, J. D., & Linden, K. G. (2005). Netherton syndrome: A case report and review of the literature. International Journal of Dermatology, 45, 693–697.CrossRefGoogle Scholar
  48. Yoneda, K. (2016). Inherited ichthyosis: Syndromic forms. Journal of Dermatology, 43, 252–263.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

Personalised recommendations