Netherton Syndrome

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Xu, R. Netherton Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4505 (accessed on 27 September 2026).

Xu R. Netherton Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4505. Accessed September 27, 2026.

Xu, Rita. "Netherton Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4505 (accessed September 27, 2026).

Xu, R. (2020, December 23). Netherton Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4505

Xu, Rita. "Netherton Syndrome." Encyclopedia. Web. 23 December, 2020.

Netherton Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/netherton-syndrome

Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane.

genetic conditions

References

Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-TeillacD, Ansai S, Mitsuhashi Y, Taïeb A, de Prost Y, Zambruno G, Harper JI, HovnanianA. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol. 2002 Feb;118(2):352-61.
D'Alessio M, Fortugno P, Zambruno G, Hovnanian A. Netherton syndrome and itsmultifaceted defective protein LEKTI. G Ital Dermatol Venereol. 2013Feb;148(1):37-51. Review.
Hovnanian A. Netherton syndrome: skin inflammation and allergy by loss ofprotease inhibition. Cell Tissue Res. 2013 Feb;351(2):289-300. doi:10.1007/s00441-013-1558-1.
Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van der Wier G, BodemerC, Bygum A, Bursztejn AC, Gaitanis G, Paradisi M, Stratigos A, Weibel L, DeraisonC, Hovnanian A. Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventionalintronic mutations. J Invest Dermatol. 2012 Mar;132(3 Pt 1):575-82. doi:10.1038/jid.2011.366.
Roelandt T, Thys B, Heughebaert C, De Vroede A, De Paepe K, Roseeuw D, RombautB, Hachem JP. LEKTI-1 in sickness and in health. Int J Cosmet Sci. 2009Aug;31(4):247-54. doi: 10.1111/j.1468-2494.2009.00516.x.Review.
Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS,Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, BuehlerB, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A,Richard G. The spectrum of pathogenic mutations in SPINK5 in 19 families withNetherton syndrome: implications for mutation detection and first case ofprenatal diagnosis. J Invest Dermatol. 2001 Aug;117(2):179-87.
Sun JD, Linden KG. Netherton syndrome: a case report and review of theliterature. Int J Dermatol. 2006 Jun;45(6):693-7. Review.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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