메뉴 건너뛰기




Volumn 2, Issue , 2011, Pages 1-10

Netherton Syndrome

Author keywords

Failure to thrive, major problem in first year of life; Gene therapy potential high efficiency gene transfer system; Immunological abnormalities and infections cutaneous, sinus and chest infections; Netherton syndrome; Netherton syndrome (OMIM 256500) or comel netherton syndrome; Netherton syndrome, affecting estimated 1 in 200,000 babies; Netherton syndrome, equal sex distribution female predominance; Netherton syndrome, first days of life congenital ichthyosiform erythroderma; Neurodevelopment normal in netherton syndrome; Staining for LEKTI protein netherton syndrome, polyclonal antibody

Indexed keywords


EID: 84886469749     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781444345384.ch124     Document Type: Chapter
Times cited : (2)

References (114)
  • 1
    • 78651200573 scopus 로고
    • Ichthyosis linearis circumflexia
    • Comel M. Ichthyosis linearis circumflexia. Dermatologica 1949;98: 133-6.
    • (1949) Dermatologica , vol.98 , pp. 133-136
    • Comel, M.1
  • 2
    • 70449210905 scopus 로고
    • A unique case of trichorrhexis nodosa; bamboo hairs
    • Netherton EW. A unique case of trichorrhexis nodosa; bamboo hairs. AMA Arch Derm 1958;78: 483-7.
    • (1958) AMA Arch Derm , vol.78 , pp. 483-487
    • Netherton, E.W.1
  • 3
    • 0007807454 scopus 로고
    • Black piedra in a child with pili torti, bamboo hair and congenital ichthyosiform erythroderma
    • Marshall J, Brede HD. Black piedra in a child with pili torti, bamboo hair and congenital ichthyosiform erythroderma. S Afr Med J 1961;35: 221-5.
    • (1961) S Afr Med J , vol.35 , pp. 221-225
    • Marshall, J.1    Brede, H.D.2
  • 4
    • 75549121008 scopus 로고
    • Netherton's disease; trichorrhexis invaginata (bamboo hair), congential ichthyosiform erythroderma and the atopic diathesis. A histopathologic study
    • Wilkinson RD, Curtis Ch, Hawk WA. Netherton's disease; trichorrhexis invaginata (bamboo hair), congential ichthyosiform erythroderma and the atopic diathesis. A histopathologic study. Arch Dermatol 1964;89: 46-54.
    • (1964) Arch Dermatol , vol.89 , pp. 46-54
    • Wilkinson, R.D.1    Ch, C.2    Hawk, W.A.3
  • 5
    • 0014595755 scopus 로고
    • Netherton's syndrome and ichthyosis linearis circumflexa
    • Altman J, Stroud J. Netherton's syndrome and ichthyosis linearis circumflexa. Arch Dermatol 1969;100: 550-8.
    • (1969) Arch Dermatol , vol.100 , pp. 550-558
    • Altman, J.1    Stroud, J.2
  • 6
    • 0016183587 scopus 로고
    • Ichthyosis linearis circumflexa comel. A clinico-statistical approach to its relationship with Netherton's syndrome
    • Mevorah B, Frenk E, Brooke EM. Ichthyosis linearis circumflexa comel. A clinico-statistical approach to its relationship with Netherton's syndrome. Dermatologica 1974;149: 201-9.
    • (1974) Dermatologica , vol.149 , pp. 201-209
    • Mevorah, B.1    Frenk, E.2    Brooke, E.M.3
  • 7
    • 0036174691 scopus 로고    scopus 로고
    • Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
    • Bitoun E, Chavanas S, Irvine AD et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002;118: 352-61.
    • (2002) J Invest Dermatol , vol.118 , pp. 352-361
    • Bitoun, E.1    Chavanas, S.2    Irvine, A.D.3
  • 10
    • 0003528977 scopus 로고
    • Guide to Clinical Diagnosis, Genetic Counselling, and Therapy
    • Berlin: Springer Verlag
    • Traupe H. Guide to Clinical Diagnosis, Genetic Counselling, and Therapy. Berlin: Springer Verlag, 1985; 168-78.
    • (1985) , pp. 168-178
    • Traupe, H.1
  • 11
    • 0017917502 scopus 로고
    • Comel's linear circumflex ichthyosis and Netherton's syndrome. General conceptions based on study of 4 cases (author's transl.)
    • Dupre A, Bonafe JL, Carrere S. [Comel's linear circumflex ichthyosis and Netherton's syndrome. General conceptions based on study of 4 cases (author's transl.)]. Ann Dermatol Venereol 1978;105: 49-54.
    • (1978) Ann Dermatol Venereol , vol.105 , pp. 49-54
    • Dupre, A.1    Bonafe, J.L.2    Carrere, S.3
  • 13
    • 0034120666 scopus 로고    scopus 로고
    • Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
    • Chavanas S, Bodemer C, Rochat A et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000;25: 141-2.
    • (2000) Nat Genet , vol.25 , pp. 141-142
    • Chavanas, S.1    Bodemer, C.2    Rochat, A.3
  • 14
    • 0035723116 scopus 로고    scopus 로고
    • The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis
    • Sprecher E, Chavanas S, DiGiovanna JJ et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol 2001;117: 179-87.
    • (2001) J Invest Dermatol , vol.117 , pp. 179-187
    • Sprecher, E.1    Chavanas, S.2    DiGiovanna, J.J.3
  • 15
    • 0142229975 scopus 로고    scopus 로고
    • A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome
    • Chao SC, Tsai YM, Lee JY. A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome. J Formos Med Assoc 2003;102: 418-23.
    • (2003) J Formos Med Assoc , vol.102 , pp. 418-423
    • Chao, S.C.1    Tsai, Y.M.2    Lee, J.Y.3
  • 16
    • 0036125197 scopus 로고    scopus 로고
    • Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides
    • Komatsu N, Takata M, Otsuki N et al. Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides. J Invest Dermatol 2002;118: 436-43.
    • (2002) J Invest Dermatol , vol.118 , pp. 436-443
    • Komatsu, N.1    Takata, M.2    Otsuki, N.3
  • 17
    • 4143130046 scopus 로고    scopus 로고
    • SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases
    • Raghunath M, Tontsidou L, Oji V et al. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J Invest Dermatol 2004;123: 474-83.
    • (2004) J Invest Dermatol , vol.123 , pp. 474-483
    • Raghunath, M.1    Tontsidou, L.2    Oji, V.3
  • 18
    • 27544483622 scopus 로고    scopus 로고
    • Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules
    • Shimomura Y, Sato N, Kariya N, Takatsuka S, Ito M. Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules. Br J Dermatol 2005;153: 1026-30.
    • (2005) Br J Dermatol , vol.153 , pp. 1026-1030
    • Shimomura, Y.1    Sato, N.2    Kariya, N.3    Takatsuka, S.4    Ito, M.5
  • 19
    • 33746548377 scopus 로고    scopus 로고
    • Netherton syndrome: report of identical twins presenting with severe atopic dermatitis
    • Kilic G, Guler N, Ones U, Tamay Z, Guzel P. Netherton syndrome: report of identical twins presenting with severe atopic dermatitis. Eur J Pediatr 2006;165: 594-7.
    • (2006) Eur J Pediatr , vol.165 , pp. 594-597
    • Kilic, G.1    Guler, N.2    Ones, U.3    Tamay, Z.4    Guzel, P.5
  • 20
    • 24344453905 scopus 로고    scopus 로고
    • A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene
    • Mizuno Y, Suga Y, Muramatsu S, Hasegawa T, Shimizu T, Ogawa H. A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene. Br J Dermatol 2005;153: 661-3.
    • (2005) Br J Dermatol , vol.153 , pp. 661-663
    • Mizuno, Y.1    Suga, Y.2    Muramatsu, S.3    Hasegawa, T.4    Shimizu, T.5    Ogawa, H.6
  • 21
    • 33746178040 scopus 로고    scopus 로고
    • A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome
    • Mizuno Y, Suga Y, Haruna K et al. A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. Clin Exp Dermatol 2006;31: 677-80.
    • (2006) Clin Exp Dermatol , vol.31 , pp. 677-680
    • Mizuno, Y.1    Suga, Y.2    Haruna, K.3
  • 22
    • 34547750375 scopus 로고    scopus 로고
    • SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome
    • Zhao Y, Ma ZH, Yang Y et al. SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome. Clin Exp Dermatol 2007;32: 564-7.
    • (2007) Clin Exp Dermatol , vol.32 , pp. 564-567
    • Zhao, Y.1    Ma, Z.H.2    Yang, Y.3
  • 23
    • 69349094764 scopus 로고    scopus 로고
    • Comel-Netherton syndrome defined as primary immunodeficiency
    • Renner ED, Hartl D, Rylaarsdam S et al. Comel-Netherton syndrome defined as primary immunodeficiency. J Allergy Clin Immunol 2009;124: 536-43.
    • (2009) J Allergy Clin Immunol , vol.124 , pp. 536-543
    • Renner, E.D.1    Hartl, D.2    Rylaarsdam, S.3
  • 24
    • 76349121319 scopus 로고    scopus 로고
    • A new SPINK5 donor splice site mutation in siblings with Netherton syndrome
    • Tuysuz B, Ojalvo D, Mat C et al. A new SPINK5 donor splice site mutation in siblings with Netherton syndrome. Acta Derm Venereol 2010;90: 95-6.
    • (2010) Acta Derm Venereol , vol.90 , pp. 95-96
    • Tuysuz, B.1    Ojalvo, D.2    Mat, C.3
  • 25
    • 85027912333 scopus 로고    scopus 로고
    • Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome derived skin grafts
    • Sep 28. [Epub ahead of print]
    • Di WL. Larcher F, Senemova E et al. Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome derived skin grafts. Mol Ther 2010 Sep 28. [Epub ahead of print].
    • (2010) Mol Ther
    • Di, W.L.1    Larcher, F.2    Senemova, E.3
  • 26
    • 0039702803 scopus 로고    scopus 로고
    • LEKTI, a novel 15 - domain type of human serine proteinase inhibitor
    • Magert HJ, Standker L, Kreutzmann P et al. LEKTI, a novel 15 - domain type of human serine proteinase inhibitor. J Biol Chem 1999;274: 21499-502.
    • (1999) J Biol Chem , vol.274 , pp. 21499-21502
    • Magert, H.J.1    Standker, L.2    Kreutzmann, P.3
  • 27
    • 10744224015 scopus 로고    scopus 로고
    • LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome
    • Bitoun E, Micheloni A, Lamant L et al. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet 2003; 12:2417-30.
    • (2003) Hum Mol Genet , vol.12 , pp. 2417-2430
    • Bitoun, E.1    Micheloni, A.2    Lamant, L.3
  • 28
    • 34548515280 scopus 로고    scopus 로고
    • LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction
    • Deraison C, Bonnart C, Lopez F et al. LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction. Mol Biol Cell 2007;18: 3607-19.
    • (2007) Mol Biol Cell , vol.18 , pp. 3607-3619
    • Deraison, C.1    Bonnart, C.2    Lopez, F.3
  • 29
    • 19944432497 scopus 로고    scopus 로고
    • Consequences of C-terminal domains and N-terminal signal peptide deletions on LEKTI secretion, stability, and subcellular distribution
    • Jayakumar A, Kang Y, Henderson Y et al. Consequences of C-terminal domains and N-terminal signal peptide deletions on LEKTI secretion, stability, and subcellular distribution. Arch Biochem Biophys 2005;435: 89-102.
    • (2005) Arch Biochem Biophys , vol.435 , pp. 89-102
    • Jayakumar, A.1    Kang, Y.2    Henderson, Y.3
  • 30
    • 28844473475 scopus 로고    scopus 로고
    • hK5 and hK7, two serine proteinases abundant in human skin, are inhibited by LEKTI domain 6
    • Egelrud T, Brattsand M, Kreutzmann P et al. hK5 and hK7, two serine proteinases abundant in human skin, are inhibited by LEKTI domain 6. Br J Dermatol 2005;153: 1200-3.
    • (2005) Br J Dermatol , vol.153 , pp. 1200-1203
    • Egelrud, T.1    Brattsand, M.2    Kreutzmann, P.3
  • 31
    • 4444223718 scopus 로고    scopus 로고
    • Expression of LEKTI domains 6-9'in the baculovirus expression system: recombinant LEKTI domains 6-9'inhibit trypsin and subtilisin A
    • Jayakumar A, Kang Y, Mitsudo K et al. Expression of LEKTI domains 6-9'in the baculovirus expression system: recombinant LEKTI domains 6-9'inhibit trypsin and subtilisin A. Protein Expr Purif 2004;35: 93-101.
    • (2004) Protein Expr Purif , vol.35 , pp. 93-101
    • Jayakumar, A.1    Kang, Y.2    Mitsudo, K.3
  • 32
    • 0037426357 scopus 로고    scopus 로고
    • Inhibition of serine proteinases plasmin, trypsin, subtilisin A, cathepsin G, and elastase by LEKTI: a kinetic analysis
    • Mitsudo K, Jayakumar A, Henderson Y et al. Inhibition of serine proteinases plasmin, trypsin, subtilisin A, cathepsin G, and elastase by LEKTI: a kinetic analysis. Biochemistry 2003;42: 3874-81.
    • (2003) Biochemistry , vol.42 , pp. 3874-3881
    • Mitsudo, K.1    Jayakumar, A.2    Henderson, Y.3
  • 33
    • 33947498991 scopus 로고    scopus 로고
    • A potential role for multiple tissue kallikrein serine proteases in epidermal desquamation
    • Borgono CA, Michael IP, Komatsu N et al. A potential role for multiple tissue kallikrein serine proteases in epidermal desquamation. J Biol Chem 2007;282: 3640-52.
    • (2007) J Biol Chem , vol.282 , pp. 3640-3652
    • Borgono, C.A.1    Michael, I.P.2    Komatsu, N.3
  • 34
    • 2442428082 scopus 로고    scopus 로고
    • Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7
    • Caubet C, Jonca N, Brattsand M et al. Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. J Invest Dermatol 2004;122: 1235-44.
    • (2004) J Invest Dermatol , vol.122 , pp. 1235-1244
    • Caubet, C.1    Jonca, N.2    Brattsand, M.3
  • 35
    • 77955086483 scopus 로고    scopus 로고
    • Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome
    • Sales KU, Masedunskas A, Bey AL et al. Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome. Nat Genet 2010;42: 676-83.
    • (2010) Nat Genet , vol.42 , pp. 676-683
    • Sales, K.U.1    Masedunskas, A.2    Bey, A.L.3
  • 36
    • 33745187792 scopus 로고    scopus 로고
    • Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin-and chymotrypsin-like hyperactivity in Netherton syndrome
    • Descargues P, Deraison C, Prost C et al. Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin-and chymotrypsin-like hyperactivity in Netherton syndrome. J Invest Dermatol 2006; 126 (7): 1622-32.
    • (2006) J Invest Dermatol , vol.126 , Issue.7 , pp. 1622-1632
    • Descargues, P.1    Deraison, C.2    Prost, C.3
  • 37
    • 0041621569 scopus 로고    scopus 로고
    • pH directly regulates epidermal permeability barrier homeostasis, and stratum corneum integrity/cohesion
    • Hachem JP, Crumrine D, Fluhr J, Brown BE, Feingold KR, Elias PM. pH directly regulates epidermal permeability barrier homeostasis, and stratum corneum integrity/cohesion. J Invest Dermatol 2003;121: 345-53.
    • (2003) J Invest Dermatol , vol.121 , pp. 345-353
    • Hachem, J.P.1    Crumrine, D.2    Fluhr, J.3    Brown, B.E.4    Feingold, K.R.5    Elias, P.M.6
  • 38
    • 66049125101 scopus 로고    scopus 로고
    • Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome
    • Briot A, Deraison C, Lacroix M et al. Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. J Exp Med 2009; 206:1135-47.
    • (2009) J Exp Med , vol.206 , pp. 1135-1147
    • Briot, A.1    Deraison, C.2    Lacroix, M.3
  • 39
    • 77949752021 scopus 로고    scopus 로고
    • Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing
    • Bonnart C, Deraison C, Lacroix M et al. Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. J Clin Invest 2010;120: 871-82.
    • (2010) J Clin Invest , vol.120 , pp. 871-882
    • Bonnart, C.1    Deraison, C.2    Lacroix, M.3
  • 40
    • 33845945142 scopus 로고    scopus 로고
    • Evidence for a matriptase - prostasin proteolytic cascade regulating terminal epidermal differentiation
    • Netzel-Arnett S, Currie BM, Szabo R et al. Evidence for a matriptase - prostasin proteolytic cascade regulating terminal epidermal differentiation. J Biol Chem 2006;281: 32941-5.
    • (2006) J Biol Chem , vol.281 , pp. 32941-32945
    • Netzel-arnett, S.1    Currie, B.M.2    Szabo, R.3
  • 41
    • 33750614146 scopus 로고    scopus 로고
    • Initiation of plasminogen activation on the surface of monocytes expressing the type II transmembrane serine protease matriptase
    • Kilpatrick LM, Harris RL, Owen KA et al. Initiation of plasminogen activation on the surface of monocytes expressing the type II transmembrane serine protease matriptase. Blood 2006;108: 2616-23.
    • (2006) Blood , vol.108 , pp. 2616-2623
    • Kilpatrick, L.M.1    Harris, R.L.2    Owen, K.A.3
  • 42
    • 49749125061 scopus 로고    scopus 로고
    • Caspase-1 activity of stratum corneum and serum interleukin-18 level are increased in patients with Netherton syndrome
    • Hosomi N, Fukai K, Nakanishi T, Funaki S, Ishii M. Caspase-1 activity of stratum corneum and serum interleukin-18 level are increased in patients with Netherton syndrome. Br J Dermatol 2008; 159:744-6.
    • (2008) Br J Dermatol , vol.159 , pp. 744-746
    • Hosomi, N.1    Fukai, K.2    Nakanishi, T.3    Funaki, S.4    Ishii, M.5
  • 43
    • 77955441579 scopus 로고    scopus 로고
    • New role for LEKTI in skin barrier formation: label-free quantitative proteomic identification of caspase 14 as a novel target for the protease inhibitor LEKTI
    • Bennett K, Callard R, Heywood W et al. New role for LEKTI in skin barrier formation: label-free quantitative proteomic identification of caspase 14 as a novel target for the protease inhibitor LEKTI. J Proteome Res 2010;9: 4289-94.
    • (2010) J Proteome Res , vol.9 , pp. 4289-4294
    • Bennett, K.1    Callard, R.2    Heywood, W.3
  • 44
    • 1642390161 scopus 로고    scopus 로고
    • Association between polymorphisms in serine protease inhibitor, kazal type 5 and asthma phenotypes in a large German population sample
    • Kabesch M, Carr D, Weiland SK, von Mutius E. Association between polymorphisms in serine protease inhibitor, kazal type 5 and asthma phenotypes in a large German population sample. Clin Exp Allergy 2004;34: 340-5.
    • (2004) Clin Exp Allergy , vol.34 , pp. 340-345
    • Kabesch, M.1    Carr, D.2    Weiland, S.K.3    von Mutius, E.4
  • 45
    • 0038579516 scopus 로고    scopus 로고
    • Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population
    • Kato A, Fukai K, Oiso N, Hosomi N, Murakami T, Ishii M. Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population. Br J Dermatol 2003;148: 665-9.
    • (2003) Br J Dermatol , vol.148 , pp. 665-669
    • Kato, A.1    Fukai, K.2    Oiso, N.3    Hosomi, N.4    Murakami, T.5    Ishii, M.6
  • 46
    • 1642307771 scopus 로고    scopus 로고
    • Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese
    • Nishio Y, Noguchi E, Shibasaki M et al. Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese. Genes Immun 2003;4: 515-17.
    • (2003) Genes Immun , vol.4 , pp. 515-517
    • Nishio, Y.1    Noguchi, E.2    Shibasaki, M.3
  • 47
    • 0034785609 scopus 로고    scopus 로고
    • Gene polymorphism in Netherton and common atopic disease
    • Walley AJ, Chavanas S, Moffatt MF et al. Gene polymorphism in Netherton and common atopic disease. Nat Genet 2001;29: 175-8.
    • (2001) Nat Genet , vol.29 , pp. 175-178
    • Walley, A.J.1    Chavanas, S.2    Moffatt, M.F.3
  • 48
    • 14844328134 scopus 로고    scopus 로고
    • SPINK5 polymorphism is associated with disease severity and food allergy in children with atopic dermatitis
    • Kusunoki T, Okafuji I, Yoshioka T et al. SPINK5 polymorphism is associated with disease severity and food allergy in children with atopic dermatitis. J Allergy Clin Immunol 2005;115: 636-8.
    • (2005) J Allergy Clin Immunol , vol.115 , pp. 636-638
    • Kusunoki, T.1    Okafuji, I.2    Yoshioka, T.3
  • 49
    • 37749031114 scopus 로고    scopus 로고
    • Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort
    • Hubiche T, Ged C, Benard A et al. Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort. Acta Derm Venereol 2007;87: 499-505.
    • (2007) Acta Derm Venereol , vol.87 , pp. 499-505
    • Hubiche, T.1    Ged, C.2    Benard, A.3
  • 50
    • 50649101129 scopus 로고    scopus 로고
    • Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk
    • Weidinger S, Baurecht H, Wagenpfeil S, et al. Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk. J Allergy Clin Immunol 2008;122: 560-8.
    • (2008) J Allergy Clin Immunol , vol.122 , pp. 560-568
    • Weidinger, S.1    Baurecht, H.2    Wagenpfeil, S.3
  • 51
    • 0032588114 scopus 로고    scopus 로고
    • Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications
    • Fartasch M, Williams ML, Elias PM. Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications. Arch Dermatol 1999;135: 823-32.
    • (1999) Arch Dermatol , vol.135 , pp. 823-832
    • Fartasch, M.1    Williams, M.L.2    Elias, P.M.3
  • 52
    • 0015450078 scopus 로고
    • Ichthyosis linearis circumflexa Comel with Trichorrhexis invaginata (Netherton's Syndrome): an ultrastructural study of the skin changes
    • Frenk E, Mevorah B. Ichthyosis linearis circumflexa Comel with Trichorrhexis invaginata (Netherton's Syndrome): an ultrastructural study of the skin changes. Arch Dermatol Forsch 1972;245: 42-9.
    • (1972) Arch Dermatol Forsch , vol.245 , pp. 42-49
    • Frenk, E.1    Mevorah, B.2
  • 53
    • 0036277966 scopus 로고    scopus 로고
    • Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing
    • Muller FB, Hausser I, Berg D et al. Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing. Br J Dermatol 2002;146: 495-9.
    • (2002) Br J Dermatol , vol.146 , pp. 495-499
    • Muller, F.B.1    Hausser, I.2    Berg, D.3
  • 55
  • 56
    • 0024405714 scopus 로고
    • Netherton's syndrome: ultrastructure of the active lesion under retinoid therapy
    • Hausser I, Anton-Lamprecht I, Hartschuh W, Petzoldt D. Netherton's syndrome: ultrastructure of the active lesion under retinoid therapy. Arch Dermatol Res 1989;281: 165-72.
    • (1989) Arch Dermatol Res , vol.281 , pp. 165-172
    • Hausser, I.1    Anton-lamprecht, I.2    Hartschuh, W.3    Petzoldt, D.4
  • 57
    • 0028077645 scopus 로고
    • A clinical and immunological study of Netherton's syndrome
    • Judge MR, Morgan G, Harper JI. A clinical and immunological study of Netherton's syndrome. Br J Dermatol 1994;131: 615-21.
    • (1994) Br J Dermatol , vol.131 , pp. 615-621
    • Judge, M.R.1    Morgan, G.2    Harper, J.I.3
  • 61
    • 0036068594 scopus 로고    scopus 로고
    • Comel-Netherton syndrome and peeling skin syndrome type B: overlapping syndromes or one entity?
    • Sardy M, Fay A, Karpati S, Horvath A. Comel-Netherton syndrome and peeling skin syndrome type B: overlapping syndromes or one entity? Int J Dermatol 2002;41: 264-8.
    • (2002) Int J Dermatol , vol.41 , pp. 264-268
    • Sardy, M.1    Fay, A.2    Karpati, S.3    Horvath, A.4
  • 62
    • 0028893542 scopus 로고
    • Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings
    • Smith DL, Smith JG, Wong SW, deShazo RD. Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immunol 1995;95: 116-23.
    • (1995) J Allergy Clin Immunol , vol.95 , pp. 116-123
    • Smith, D.L.1    Smith, J.G.2    Wong, S.W.3    DeShazo, R.D.4
  • 63
    • 0032586315 scopus 로고    scopus 로고
    • Comel-Netherton syndrome complicated by papillomatous skin lesions containing human papillomaviruses 51 and 52 and plane warts containing human papillomavirus 16
    • Folster-Holst R, Swensson O, Stockfleth E, Monig H, Mrowietz U, Christophers E. Comel-Netherton syndrome complicated by papillomatous skin lesions containing human papillomaviruses 51 and 52 and plane warts containing human papillomavirus 16. Br J Dermatol 1999;140: 1139-43.
    • (1999) Br J Dermatol , vol.140 , pp. 1139-1143
    • Folster-holst, R.1    Swensson, O.2    Stockfleth, E.3    Monig, H.4    Mrowietz, U.5    Christophers, E.6
  • 64
    • 0015117981 scopus 로고
    • Symptomatology of Comel's linear circumflex ichthyosis (a case associated with genito-anal papillomatosis)
    • Sedlacek V, Krenar J. [Symptomatology of Comel's linear circumflex ichthyosis (a case associated with genito-anal papillomatosis)]. Hautarzt 1971;22: 390-7.
    • (1971) Hautarzt , vol.22 , pp. 390-397
    • Sedlacek, V.1    Krenar, J.2
  • 66
    • 0019209848 scopus 로고
    • Netherton syndrome: weakened immunity, generalized verrucosis and carcinogenesis
    • Hintner H, Jaschke E, Fritsch P. [Netherton syndrome: weakened immunity, generalized verrucosis and carcinogenesis]. Hautarzt 1980;31: 428-32.
    • (1980) Hautarzt , vol.31 , pp. 428-432
    • Hintner, H.1    Jaschke, E.2    Fritsch, P.3
  • 67
    • 0023280078 scopus 로고
    • Development of cancer (vulvar cancer) in the Netherton syndrome (ichthyosis, hair anomalies, atopic diathesis)
    • Kubler HC, Kuhn W, Rummel HH, Kaufmann I, Kaufmann M. [Development of cancer (vulvar cancer) in the Netherton syndrome (ichthyosis, hair anomalies, atopic diathesis)]. Geburtshilfe Frauenheilkd 1987;47: 742-4.
    • (1987) Geburtshilfe Frauenheilkd , vol.47 , pp. 742-744
    • Kubler, H.C.1    Kuhn, W.2    Rummel, H.H.3    Kaufmann, I.4    Kaufmann, M.5
  • 68
    • 0036060004 scopus 로고    scopus 로고
    • Squamous cell carcinoma in a patient with Netherton's syndrome
    • Saghari S, Woolery-Lloyd H, Nouri K. Squamous cell carcinoma in a patient with Netherton's syndrome. Int J Dermatol 2002; 41:415-16.
    • (2002) Int J Dermatol , vol.41 , pp. 415-416
    • Saghari, S.1    Woolery-lloyd, H.2    Nouri, K.3
  • 70
    • 0014598217 scopus 로고
    • Multiple defects of the hair shaft in Netherton's disease. Association with ichthyosis linearis circumflexa
    • Stevanovic DV. Multiple defects of the hair shaft in Netherton's disease. Association with ichthyosis linearis circumflexa. Br J Dermatol 1969;81: 851-7.
    • (1969) Br J Dermatol , vol.81 , pp. 851-857
    • Stevanovic, D.V.1
  • 71
    • 0029886612 scopus 로고    scopus 로고
    • Trichorrhexis nodosa: a manifestation of hypothyroidism
    • Lurie R, Hodak E, Ginzburg A, David M. Trichorrhexis nodosa: a manifestation of hypothyroidism. Cutis 1996;57: 358-9.
    • (1996) Cutis , vol.57 , pp. 358-359
    • Lurie, R.1    Hodak, E.2    Ginzburg, A.3    David, M.4
  • 72
    • 0019472134 scopus 로고
    • Menkes'syndrome (trichopoliodystrophy): use of scanning electron-microscope in diagnosis and carrier identification
    • Taylor CJ, Green SH. Menkes'syndrome (trichopoliodystrophy): use of scanning electron-microscope in diagnosis and carrier identification. Dev Med Child Neurol 1981;23: 361-8.
    • (1981) Dev Med Child Neurol , vol.23 , pp. 361-368
    • Taylor, C.J.1    Green, S.H.2
  • 73
    • 0030849960 scopus 로고    scopus 로고
    • Trichorrhexis nodosa and lip pits in autosomal dominant ectodermal dysplasia-central nervous system malformation syndrome
    • Silengo M, Pietragalla A, Jarre L. Trichorrhexis nodosa and lip pits in autosomal dominant ectodermal dysplasia-central nervous system malformation syndrome. Am J Med Genet 1997; 71:226-8.
    • (1997) Am J Med Genet , vol.71 , pp. 226-228
    • Silengo, M.1    Pietragalla, A.2    Jarre, L.3
  • 74
    • 0041846945 scopus 로고    scopus 로고
    • Hair anomalies as a sign of mitochondrial disease
    • Silengo M, Valenzise M, Spada M et al. Hair anomalies as a sign of mitochondrial disease. Eur J Pediatr 2003;162: 459-61.
    • (2003) Eur J Pediatr , vol.162 , pp. 459-461
    • Silengo, M.1    Valenzise, M.2    Spada, M.3
  • 76
    • 0021237498 scopus 로고
    • Pathogenesis in trichorrhexis invaginata (bamboo hair)
    • Ito M, Ito K, Hashimoto K. Pathogenesis in trichorrhexis invaginata (bamboo hair). J Invest Dermatol 1984;83: 1-6.
    • (1984) J Invest Dermatol , vol.83 , pp. 1-6
    • Ito, M.1    Ito, K.2    Hashimoto, K.3
  • 77
    • 0018971878 scopus 로고
    • The histochemical demonstration of protein-bound sulfhydryl groups and disulfide bonds in human hair by a new staining method (DACM staining)
    • Taneda A, Ogawa H, Hashimoto K. The histochemical demonstration of protein-bound sulfhydryl groups and disulfide bonds in human hair by a new staining method (DACM staining). J Invest Dermatol 1980;75: 365-9.
    • (1980) J Invest Dermatol , vol.75 , pp. 365-369
    • Taneda, A.1    Ogawa, H.2    Hashimoto, K.3
  • 78
    • 0036191743 scopus 로고    scopus 로고
    • Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis
    • Bitoun E, Bodemer C, Amiel J et al. Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis. Prenat Diagn 2002;22: 121-6.
    • (2002) Prenat Diagn , vol.22 , pp. 121-126
    • Bitoun, E.1    Bodemer, C.2    Amiel, J.3
  • 80
    • 0032860949 scopus 로고    scopus 로고
    • Netherton's syndrome: increased likelihood of diagnosis by examining eyebrow hairs
    • Powell J, Dawber RP, Ferguson DJ, Griffiths WA. Netherton's syndrome: increased likelihood of diagnosis by examining eyebrow hairs. Br J Dermatol 1999;141: 544-6.
    • (1999) Br J Dermatol , vol.141 , pp. 544-546
    • Powell, J.1    Dawber, R.P.2    Ferguson, D.J.3    Griffiths, W.A.4
  • 81
    • 0022053374 scopus 로고
    • Canestick lesion of vellus hair in Netherton's syndrome
    • Menne T, Weisman K. Canestick lesion of vellus hair in Netherton's syndrome. Arch Dermatol 1985;121: 451.
    • (1985) Arch Dermatol , vol.121 , pp. 451
    • Menne, T.1    Weisman, K.2
  • 82
    • 0015832180 scopus 로고
    • Ichthyosis linearis circumflexa and Netherton's syndrome with idiopathic dwarfism
    • Adamson JE, Marten RH. Ichthyosis linearis circumflexa and Netherton's syndrome with idiopathic dwarfism. Proc R Soc Med 1973; 66:624-5.
    • (1973) Proc R Soc Med , vol.66 , pp. 624-625
    • Adamson, J.E.1    Marten, R.H.2
  • 83
    • 0021339111 scopus 로고
    • Netherton's syndrome in two adult brothers
    • Caputo R, Vanotti P, Bertani E. Netherton's syndrome in two adult brothers. Arch Dermatol 1984;120: 220-2.
    • (1984) Arch Dermatol , vol.120 , pp. 220-222
    • Caputo, R.1    Vanotti, P.2    Bertani, E.3
  • 84
    • 0018825777 scopus 로고
    • Nertherton's syndrome
    • Brodin MB, Porter PS. Nertherton's syndrome. Cutis 1980; 26:185-8.
    • (1980) Cutis , vol.26 , pp. 185-188
    • Brodin, M.B.1    Porter, P.S.2
  • 85
    • 0014752111 scopus 로고
    • Scanning electron microscopy of normal and abnormal hair shafts
    • Dawber R, Comaish S. Scanning electron microscopy of normal and abnormal hair shafts. Arch Dermatol 1970;101: 316-22.
    • (1970) Arch Dermatol , vol.101 , pp. 316-322
    • Dawber, R.1    Comaish, S.2
  • 88
    • 0033884765 scopus 로고    scopus 로고
    • Structural hair shaft abnormalities in hypomelanosis of Ito and other ectodermal dysplasias
    • Selvaag E, Aas AM, Heide S. Structural hair shaft abnormalities in hypomelanosis of Ito and other ectodermal dysplasias. Acta Paediatr 2000;89: 610-12.
    • (2000) Acta Paediatr , vol.89 , pp. 610-612
    • Selvaag, E.1    Aas, A.M.2    Heide, S.3
  • 89
    • 0026875633 scopus 로고
    • What syndrome is this? Netherton syndrome
    • Krafchik BR. What syndrome is this? Netherton syndrome. Pediatr Dermatol 1992;9: 157-60.
    • (1992) Pediatr Dermatol , vol.9 , pp. 157-160
    • Krafchik, B.R.1
  • 91
    • 0014075083 scopus 로고
    • Netherton's disease in two sisters
    • Stankler L, Cochrane T. Netherton's disease in two sisters. Br J Dermatol 1967;79: 187-96.
    • (1967) Br J Dermatol , vol.79 , pp. 187-196
    • Stankler, L.1    Cochrane, T.2
  • 95
    • 0033035244 scopus 로고    scopus 로고
    • Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome
    • Stryk S, Siegfried EC, Knutsen AP. Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome . Pediatr Dermatol 1999;16: 19-22.
    • (1999) Pediatr Dermatol , vol.16 , pp. 19-22
    • Stryk, S.1    Siegfried, E.C.2    Knutsen, A.P.3
  • 97
    • 18844469234 scopus 로고    scopus 로고
    • Netherton syndrome with recurrent herpes of facial skin
    • Arslanagic N, Arslanagic R. [Netherton syndrome with recurrent herpes of facial skin]. Medicinski Arhiv (Sarajevo) 2002;56: 221-4.
    • (2002) Medicinski Arhiv (Sarajevo) , vol.56 , pp. 221-224
    • Arslanagic, N.1    Arslanagic, R.2
  • 98
    • 0033025471 scopus 로고    scopus 로고
    • Recurrent bacterial vaginosis and Netherton' s syndrome
    • Nicholls S, Patel HC, Jones M. Recurrent bacterial vaginosis and Netherton' s syndrome. Int J STD AIDS 1999;10: 202-3.
    • (1999) Int J STD AIDS , vol.10 , pp. 202-203
    • Nicholls, S.1    Patel, H.C.2    Jones, M.3
  • 100
    • 0023624999 scopus 로고
    • Vaccine - associated poliomyelitis in a household contact with Netherton's syndrome receiving long-term steroid therapy
    • Gross TP, Khurana RK, Higgins T, Nkowane BS, Hirsch RL. Vaccine - associated poliomyelitis in a household contact with Netherton's syndrome receiving long-term steroid therapy. Am J Med 1987; 83:797-800.
    • (1987) Am J Med , vol.83 , pp. 797-800
    • Gross, T.P.1    Khurana, R.K.2    Higgins, T.3    Nkowane, B.S.4    Hirsch, R.L.5
  • 101
    • 0029886303 scopus 로고    scopus 로고
    • Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome
    • Hausser I, Anton-Lamprecht I. Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. Pediatr Dermatol 1996;13: 183-99.
    • (1996) Pediatr Dermatol , vol.13 , pp. 183-199
    • Hausser, I.1    Anton-lamprecht, I.2
  • 103
    • 0020354476 scopus 로고
    • Growth abnormality in Netherton's syndrome
    • Greig D, Wishart J. Growth abnormality in Netherton's syndrome. Australas J Dermatol 1982;23: 27-31.
    • (1982) Australas J Dermatol , vol.23 , pp. 27-31
    • Greig, D.1    Wishart, J.2
  • 104
    • 0034790532 scopus 로고    scopus 로고
    • Severe hypernatremic dehydration in an infant with Netherton syndrome
    • Stoll C, Alembik Y, Tchomakov D et al. Severe hypernatremic dehydration in an infant with Netherton syndrome. Genet Couns 2001;12: 237-43.
    • (2001) Genet Couns , vol.12 , pp. 237-243
    • Stoll, C.1    Alembik, Y.2    Tchomakov, D.3
  • 106
    • 0031912301 scopus 로고    scopus 로고
    • Acute bilateral renal vein thrombosis complicating Netherton syndrome
    • Pohl M, Zimmerhackl LB, Hausser I et al. Acute bilateral renal vein thrombosis complicating Netherton syndrome. Eur J Pediatr 1998;157: 157-60.
    • (1998) Eur J Pediatr , vol.157 , pp. 157-160
    • Pohl, M.1    Zimmerhackl, L.B.2    Hausser, I.3
  • 107
    • 0036657047 scopus 로고    scopus 로고
    • Netherton syndrome associated with idiopathic congenital hemihypertrophy
    • Yerebakan O, Uguz A, Keser I et al. Netherton syndrome associated with idiopathic congenital hemihypertrophy. Pediatr Dermatol 2002;19: 345-8.
    • (2002) Pediatr Dermatol , vol.19 , pp. 345-348
    • Yerebakan, O.1    Uguz, A.2    Keser, I.3
  • 108
    • 0015131144 scopus 로고
    • Netherton's syndrome in a male
    • Julius CE, Keeran M. Netherton's syndrome in a male. Arch Dermatol 1971;104: 422-4.
    • (1971) Arch Dermatol , vol.104 , pp. 422-424
    • Julius, C.E.1    Keeran, M.2
  • 109
    • 0023864756 scopus 로고
    • Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency
    • Glover MT, Atherton DJ, Levinsky RJ. Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency. Pediatrics 1988;81: 66-72.
    • (1988) Pediatrics , vol.81 , pp. 66-72
    • Glover, M.T.1    Atherton, D.J.2    Levinsky, R.J.3
  • 110
    • 11144294679 scopus 로고    scopus 로고
    • LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome
    • Ong C, O'Toole EA, Ghali L et al. LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome. Br J Dermatol 2004;151: 1253-7.
    • (2004) Br J Dermatol , vol.151 , pp. 1253-1257
    • Ong, C.1    O'Toole, E.A.2    Ghali, L.3
  • 111
    • 0034978116 scopus 로고    scopus 로고
    • Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome
    • Allen A, Siegfried E, Silverman R et al. Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome. Arch Dermatol 2001;137: 747-50.
    • (2001) Arch Dermatol , vol.137 , pp. 747-750
    • Allen, A.1    Siegfried, E.2    Silverman, R.3
  • 112
    • 0042635547 scopus 로고    scopus 로고
    • Topical treatment of Netherton's syndrome with tacrolimus ointment without significant systemic absorption
    • Bens G, Boralevi F, Buzenet C, Taieb A. Topical treatment of Netherton's syndrome with tacrolimus ointment without significant systemic absorption. Br J Dermatol 2003;149: 224-6.
    • (2003) Br J Dermatol , vol.149 , pp. 224-226
    • Bens, G.1    Boralevi, F.2    Buzenet, C.3    Taieb, A.4
  • 114
    • 33845524625 scopus 로고    scopus 로고
    • Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells
    • Mavilio F, Pellegrini G, Ferrari S et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med 2006;12: 1397-402.
    • (2006) Nat Med , vol.12 , pp. 1397-1402
    • Mavilio, F.1    Pellegrini, G.2    Ferrari, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.