Erythrodermic peeling skin syndrome is a variant of Netherton syndrome due to detrimental mutations in SPINK5

被引:0
|
作者
Ratajczak, PA
Geyer, AS
Silverman, R
Pol-Rodriguez, M
Millar, WS
Garzon, M
Uitto, J
Richard, G
机构
[1] Thomas Jefferson Univ, Dept Dermatol & Cutan Biol, Philadelphia, PA 19107 USA
[2] Columbia Univ, Med Ctr, Dept Dermatol, New York, NY USA
[3] INOVA Fairfax Hosp Children, Fairfax, VA USA
[4] Columbia Univ, Med Ctr, Dept Radiol, New York, NY USA
[5] Columbia Univ, Med Ctr, Dept Pediat, New York, NY USA
关键词
D O I
暂无
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
446
引用
收藏
页码:A75 / A75
页数:1
相关论文
共 50 条
  • [41] A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements
    Fortugno, Paola
    Grosso, Fabiana
    Zambruno, Giovanna
    Pastore, Serena
    Faletra, Flavio
    Castiglia, Daniele
    JOURNAL OF HUMAN GENETICS, 2012, 57 (05) : 311 - 315
  • [42] New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome
    Fong, K.
    Akdeniz, S.
    Isi, H.
    Taskesen, M.
    McGrath, J. A.
    Lai-Cheong, J. E.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2011, 36 (04) : 412 - 415
  • [43] Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation
    Hannula-Jouppi, Katariina
    Laasanen, Satu-Leena
    Ilander, Mette
    Furio, Laetitia
    Tuomiranta, Mirja
    Marttila, Riitta
    Jeskanen, Leila
    Hayry, Valtteri
    Kanerva, Mervi
    Kivirikko, Sirpa
    Tuomi, Marja-Leena
    Heikkila, Hannele
    Mustjoki, Satu
    Hovnanian, Alain
    Ranki, Annamari
    JAMA DERMATOLOGY, 2016, 152 (04) : 435 - 442
  • [44] Molecular signatures of skin barrier defect and inflammation in Netherton syndrome uncovered by comparing patients to viable Spink5 knock-out mice
    Petrova, E.
    Orts, J. M. Lopez-Gay
    Fahrner, M.
    Leturcq, F.
    Villartay, J-Pd
    Barbieux, C.
    Tsoi, L.
    Gudjonsson, J.
    Schilling, O.
    Hovnanian, A.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2023, 143 (11) : S352 - S352
  • [45] Targeted disruption of Spink5 in mice results in abnormal desquamation and impaired hair formation reminiscent of Netherton syndrome, in addition to severe skin fragility
    Descargues, P
    Deraison, C
    Bonnart, C
    Kreft, M
    Sonnenberg, A
    Hovnanian, A
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 122 (03) : A87 - A87
  • [46] Novel mutations in SPINK5 encoding a serine-protease inhibitor in Netherton syndrome, a severe congenital ichthyosis with hair abnormalities and atopic manifestations.
    Bitoun, E
    Chavanas, S
    Irvine, AD
    Paradisi, M
    Bodemer, C
    Hamel-Teillac, D
    Lonie, L
    Ansai, SI
    Mitsuhashi, Y
    Zimmer, M
    de Prost, Y
    Zambruno, G
    Harper, JI
    Hovnanian, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 382 - 382
  • [47] A NEW SPLICE-SITE MUTATION OF SPINK5 GENE IN THE NETHERTON SYNDROME WITH DIFFERENT CLINICAL FEATURES: A CASE REPORT
    Erden, E.
    Ceylan, A. C.
    Emre, S.
    BALKAN JOURNAL OF MEDICAL GENETICS, 2020, 23 (01) : 91 - 94
  • [48] SPINK5 knockdown in organotypic human skin culture as a model system for Netherton syndrome: effect of genetic inhibition of serine proteases kallikrein 5 and kallikrein 7
    Wang, Shirley
    Olt, Sabine
    Schoefmann, Nicole
    Stuetz, Anton
    Winiski, Anthony
    Wolff-Winiski, Barbara
    EXPERIMENTAL DERMATOLOGY, 2014, 23 (07) : 524 - 526
  • [49] Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report
    Kovacheva, Katya
    Kamburova, Zornitza
    Vasilev, Preslav
    Yordanova, Ivelina
    CASE REPORTS IN DERMATOLOGY, 2024, 16 (01): : 47 - 54
  • [50] Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome
    Farooq, Muhammad
    Kurban, Mazen
    Abbas, Ossama
    Kibbi, Abdul-Ghani
    Fujimoto, Atsushi
    Fujikawa, Hiroki
    Shimomura, Yutaka
    EUROPEAN JOURNAL OF DERMATOLOGY, 2012, 22 (03) : 412 - 413