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A new splice-site mutation of SPINK5 gene in the Netherton syndrome with different clinical features: A case report


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Netherton EW. A unique case of trichorrhexis nodosa; bamboo hairs. AMA Arch Derm. 1958; 78(4): 483-487.NethertonEWA unique case of trichorrhexis nodosa; bamboo hairsAMA Arch Derm195878448348710.1001/archderm.1958.0156010005900913582191Search in Google Scholar

Wilkinson RD, George HC, William AH. Netherton’s disease: Trichorrhexis invaginata (bamboo hair), congenital ichthyosiform erythroderma and the atopic diathesis. A histopathologic study. Arch Dermatol. 1964; 89(1): 46-54. doi: 10.1001/archderm. 1964.0159025005 2010.WilkinsonRDGeorgeHCWilliamAHNetherton’s disease: Trichorrhexis invaginata (bamboo hair), congenital ichthyosiform erythroderma and the atopic diathesis. A histopathologic studyArch Dermatol19648914654doi10.1001/archderm.1964.0159025005201014070837Open DOISearch in Google Scholar

Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, Zafiriou E, Patsatsi A, Stamatis C, et al. Netherton syndrome: A genotype-phenotype review. Mol Diag Ther. 2017; 21(2): 137-152.SarriCARoussaki-SchulzeAVasilopoulosYZafiriouEPatsatsiAStamatisCet alNetherton syndrome: A genotype-phenotype reviewMol Diag Ther201721213715210.1007/s40291-016-0243-y27905021Search in Google Scholar

Fortugno P, Grosso F, Zambruno G, Pastore S, Faletra F, Castiglia D. A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements. J Hum Genet. 2012; 57(5): 311-315.FortugnoPGrossoFZambrunoGPastoreSFaletraFCastigliaDA synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elementsJ Hum Genet201257531131510.1038/jhg.2012.2222377713Search in Google Scholar

Zhang X-B, Zhang S-Q, He Y-Q, Luo Y-W, Luo Q, Li C-X. Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI. Indian J Dermatol. 2012; 57(4): 265-268.ZhangX-BZhangS-QHeY-QLuoY-WLuoQLiC-XNetherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTIIndian J Dermatol201257426526810.4103/0019-5154.97660340183922837558Search in Google Scholar

Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, et al. Netherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol. 2002; 118(2): 352-361.BitounEChavanasSIrvineADLonieLBodemerCParadisiMet alNetherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 familiesJ Invest Dermatol2002118235236110.1046/j.1523-1747.2002.01603.x11841556Search in Google Scholar

Komatsu N, Saijoh K, Jayakumar A, dayman GL, Tohyama M, Suga Y, et al. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients. J Invest Dermatol. 2008; 128(5): 1148-1159.KomatsuNSaijohKJayakumarAdaymanGLTohyamaMSugaYet alCorrelation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patientsJ Invest Dermatol200812851148115910.1038/sj.jid.570115317989726Search in Google Scholar

Tüysüz B, Ojalvo D, Mat C, Zambruno G, Covaciu C, Castiglia D, et al. A new SPINK5 donor splice site mutation in siblings with Netherton syndrome. Acta Derm Venereol. 2010; 90(1): 95-96.TüysüzBOjalvoDMatCZambrunoGCovaciuCCastigliaDet alA new SPINK5 donor splice site mutation in siblings with Netherton syndromeActa Derm Venereol2010901959610.2340/00015555-076920107740Search in Google Scholar

Fong K, Akdeniz S, Isi H, Taskesen M, McGrath JA, Lai Cheong JE. New homozygous SPINK5 mutation, p. Gln333X, in a Turkish pedigree with Netherton syndrome. Clin Exp Dermatol. 2011; 36(4), 412-415.FongKAkdenizSIsiHTaskesenMMcGrathJALai CheongJENew homozygous SPINK5 mutation, p. Gln333X, in a Turkish pedigree with Netherton syndromeClin Exp Dermatol201136441241510.1111/j.1365-2230.2010.03976.x21564178Search in Google Scholar

Nevet MJ, Indelman M, Ben-Ari J, Bergman R. A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course. Int J Dermatol. 2017; 56(10): 1055-1057.NevetMJIndelmanMBen-AriJBergmanRA case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal courseInt J Dermatol201756101055105710.1111/ijd.1373028832989Search in Google Scholar

Roda Â, Mendonça-Sanches M, Travassos AR, Soares-de-Almeida L, Metze D. Infliximab therapy for Netherton syndrome: A case report. JAAD Case Rep. 2017; 3(6): 550-552.RodaÂMendonça-SanchesMTravassosARSoares-de-AlmeidaLMetzeDInfliximab therapy for Netherton syndrome: A case reportJAAD Case Rep20173655055210.1016/j.jdcr.2017.07.019568133929159247Search in Google Scholar

Srinivas SM, Hiremagalore R, Suryanarayan S, Budamakuntala L. Netherton syndrome with pili torti. Int J Trichology. 2013; 5(4): 225-226.SrinivasSMHiremagaloreRSuryanarayanSBudamakuntalaLNetherton syndrome with pili tortiInt J Trichology20135422522610.4103/0974-7753.130424399966024778540Search in Google Scholar

Mirmirani Paradi, Huang KP, Price VH. A practical, algorithmic approach to diagnosing hair shaft disorders. Int J Dermatol. 2011; 50(1): 1-12.MirmiraniParadiHuangKPPriceVHA practical, algorithmic approach to diagnosing hair shaft disordersInt J Dermatol201150111210.1111/j.1365-4632.2010.04768.x21182495Search in Google Scholar

Śmigiel R, Królak-Olejnik B, Śniegórska D, Rozensztrauch A, Szafrańska A, Sasiadek MM, et al. Is c.1431-12G>A a common European mutation of SPINK5? Report of a patient with Netherton syndrome. Balkan J Med Genet. 2017; 19(2): 81-84.ŚmigielRKrólak-OlejnikBŚniegórskaDRozensztrauchASzafrańskaASasiadekMMet alIs c.1431-12G>A a common European mutation of SPINK5? Report of a patient with Netherton syndromeBalkan J Med Genet2017192818410.1515/bjmg-2016-0040534333528289593Search in Google Scholar

Hovnanian A. Netherton syndrome : Skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res. 2013; 351(2): 289-300.HovnanianANetherton syndrome : Skin inflammation and allergy by loss of protease inhibitionCell Tissue Res2013351228930010.1007/s00441-013-1558-123344365Search in Google Scholar

Alpigiani MG, Salvati P, Schiaffino MC, Occella C, Castiglia D, Covaciu C, et al. A new SPINK5 mutation in a patient with Netherton syndrome: A case report. Pediatr Dermatol. 2012; 29(4): 521-522.AlpigianiMGSalvatiPSchiaffinoMCOccellaCCastigliaDCovaciuCet alA new SPINK5 mutation in a patient with Netherton syndrome: A case reportPediatr Dermatol201229452152210.1111/j.1525-1470.2011.01525.x21692842Search in Google Scholar

Itoh K, Kako T, Suzuki N, Sakurai N, Sugiyama K, Yamanishi K. Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT. JDermatol. 2015; 42(12): 1212-1214.ItohKKakoTSuzukiNSakuraiNSugiyamaKYamanishiKSevere lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delATJDermatol201542121212121410.1111/1346-8138.1309026365906Search in Google Scholar

Diociaiuti A, Castiglia D, Fortugno P, Bartuli A, Pascucci M, Zambruno G, et al. Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5. Pediatr Dermatol. 2013; 30(4): e65-e67.DiociaiutiACastigliaDFortugnoPBartuliAPascucciMZambrunoGet alLethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5Pediatr Dermatol2013304e65e6710.1111/pde.1207623331056Search in Google Scholar

Emre S, Metin A, Demirseren DD, Yorulmaz A, Onursever A, Kaftan B. Two siblings with Netherton syndrome. Turkish J Med Sci. 2010; 40(5): 819-823.EmreSMetinADemirserenDDYorulmazAOnurseverAKaftanBTwo siblings with Netherton syndromeTurkish J Med Sci201040581982310.3906/sag-0904-12Search in Google Scholar

Jones SK, Thomason LM, Surbrugg SK, Weston WL. Neonatal hypernatraemia in two siblings with Netherton’s syndrome. Br JDermatol. 1986; 114(6): 741-743.JonesSKThomasonLMSurbruggSKWestonWLNeonatal hypernatraemia in two siblings with Netherton’s syndromeBr JDermatol1986114674174310.1111/j.1365-2133.1986.tb04885.x3718867Search in Google Scholar

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Medicine, Basic Medical Science, other