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Nethertone syndrome

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https://www.readbyqxmd.com/read/30016041/netherton-syndrome-a-neonatal-case-with-respiratory-insufficiency
#1
Emel Okulu, Gaffari Tunc, Omer Erdeve, Yelda Mumcu, Begum Atasay, Erdal Ince, Saadet Arsan
Netherton syndrome (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, hair abnormality and atopic manifestations. This syndrome is caused by recessive mutation in the SPINK5 gene. Disease manifestations vary considerably among NS individuals. We report a newborn presented with severe respiratory insufficiency, hypothermia and erythroderma, was diagnosed as having NS and confirmed with molecular genetic testing.
August 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29926005/analysis-of-all-34-exons-of-the-spink5-gene-in-japanese-atopic-dermatitis-patients
#2
Shin Morizane, Mamoru Ouchida, Ko Sunagawa, Saeko Sugimoto, Mina Kobashi, Satoru Sugihara, Hayato Nomura, Kazuhide Tsuji, Atsushi Sato, Yoshihiro Miura, Hiroaki Hattori, Kotaro Tada, Wook-Kang Huh, Akemi Seno, Keiji Iwatsuki
Lympho-epithelial Kazal-type-related inhibitor (LEKTI) is a large multidomain serine protease inhibitor that is expressed in epidermal keratinocytes. Nonsense mutations of the SPINK5 gene, which codes for LEKTI, cause Netherton syndrome, which is characterized by hair abnormality, ichthyosis, and atopy. A single nucleotide polymorphism (SNP) of SPINK5, p.K420E, is reported to be associated with the pathogenesis of atopic dermatitis (AD). We studied all 34 exons of the SPINK5 gene in Japanese 57 AD patients and 50 normal healthy controls...
June 2018: Acta Medica Okayama
https://www.readbyqxmd.com/read/29803800/ichthyosis-molecular-fingerprinting-shows-profound-th17-skewing-and-a-unique-barrier-genomic-signature
#3
Kunal Malik, Helen He, Thy Nhat Huynh, Gary Tran, Kelly Mueller, Kristina Doytcheva, Yael Renert-Yuval, Tali Czarnowicki, Shai Magidi, Margaret Chu, Yeriel D Estrada, Huei-Chi Wen, Xiangyu Peng, Hui Xu, Xiuzhong Zheng, James G Krueger, Amy S Paller, Emma Guttman-Yassky
BACKGROUND: Ichthyoses are a group of rare skin disorders lacking effective treatments. Although genetic mutations are progressively delineated, comprehensive molecular phenotyping of ichthyotic skin could suggest much-needed pathogenesis-based therapy. OBJECTIVE: To profile the molecular fingerprint of the most common orphan ichthyoses. METHODS: Gene, protein, and serum studies were performed on skin and blood samples from 29 patients (congenital ichthyosiform erythroderma/CIE, n=9; lamellar ichthyosis/LI, n=8; epidermolytic ichthyosis/EI, n=8; and Netherton syndrome/NS, n=4), as well as age-matched healthy controls (n=14), psoriasis (n=30), and atopic dermatitis/AD (n=16) patients...
May 24, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29781262/novel-spink5-variants-in-a-patient-with-netherton-syndrome-and-intellectual-disability-the-diagnostic-value-of-trichoscopy
#4
Carmelo Schepis, Pinella Failla, Maddalena Siragusa, Mirella Vinci, Francesco Calì
No abstract text is available yet for this article.
May 16, 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29660300/the-major-orphan-forms-of-ichthyosis-are-characterized-by-systemic-t-cell-activation-and-th-17-tc-17-th-22-tc-22-polarization-in-blood
#5
Tali Czarnowicki, Helen He, Alexandra Leonard, Kunal Malik, Shai Magidi, Stephanie Rangel, Krishna Patel, Kara Ramsey, Morgan Murphrey, Teresa Song, Yeriel Estrada, Hue-Chi Wen, James G Krueger, Emma Guttman-Yassky, Amy S Paller
The ichthyoses are rare skin disorders with immune and barrier aberrations. Identifying blood phenotypes may advance targeted therapeutics. We aimed to compare frequencies of skin homing/cutaneous lymphocyte antigen (+) versus systemic/cutaneous lymphocyte antigen (-) "polar" CD4+ /CD8+ and activated T-cell subsets in ichthyosis versus atopic dermatitis, psoriasis, and control blood, with appropriate clinical correlations. Flow cytometry was used to measure IFN-γ, IL-13, IL-9, IL-17, and IL-22 cytokines in CD4+ /CD8+ T cells, with inducible co-stimulator molecule and HLA-DR defining mid- and long-term T-cell activation, respectively...
April 14, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29527381/an-8-year-old-child-with-delayed-diagnosis-of-netherton-syndrome
#6
Alexander K C Leung, Benjamin Barankin, Kin Fon Leong
We report an 8-year-old boy with Netherton syndrome who was misdiagnosed and treated as severe atopic dermatitis. The diagnosis of Netherton syndrome was not made until the child was 8 years of age. We discuss the pitfalls in the diagnosis and alert physicians to the proper and early diagnosis of this syndrome. The child was treated with a low dose (0.25 mg/kg) of oral acitretin and a topical moisturizer with marked improvement of his skin and pruritus in 2 months. At 6-month follow-up, the skin was almost clear of erythema and scaling, and the hair was longer and stronger...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29494334/kallikrein-related-peptidase-14-is-the-second-klk-protease-targeted-by-the-serpin-vaspin
#7
David Ulbricht, Catherine A Tindall, Kathrin Oertwig, Stefanie Hanke, Norbert Sträter, John T Heiker
Kallikrein-related peptidases KLK5, KLK7 and KLK14 are important proteases in skin desquamation and aberrant KLK activity is associated with inflammatory skin diseases such as Netherton syndrome but also with various serious forms of cancer. Previously, we have identified KLK7 as the first protease target of vaspin (Serpin A12). Here, we report KLK14 as a second KLK protease to be inhibited by vaspin. In conclusion, vaspin represents a multispecific serpin targeting the kallikrein proteases KLK7 and KLK14, with distinct exosites regulating recognition of these target proteases and opposing effects of heparin binding on the inhibition reaction...
February 1, 2018: Biological Chemistry
https://www.readbyqxmd.com/read/29458120/major-role-for-trpv1-and-insp3r-in-par2-elicited-inflammatory-mediator-production-in-differentiated-human-keratinocytes
#8
Olivier Gouin, Killian L'Herondelle, Paul Buscaglia, Christelle Le Gall-Ianotto, Réginald Philippe, Nelig Legoux, Olivier Mignen, Virginie Buhé, Raphael Leschiera, Mehdi Sakka, Nathalie Kerfant, Jean-Luc Carré, Raphaele Le Garrec, Luc Lefeuvre, Nicolas Lebonvallet, Laurent Misery
PAR2 activation in basal keratinocytes stimulates inflammation via the Ca2+ -dependent production of mediators such as IL-1β, TNF-α, and TSLP. In this study, we investigated PAR2 calcium signaling and the consequent production of inflammatory mediators in differentiated human primary keratinocytes (DhPKs). Stimulation with the PAR2-activating peptide SLIGKV promoted Ca2+ store depletion in both undifferentiated human primary keratinocytes and DhPKs. SLIGKV-evoked Ca2+ store depletion did not trigger the store-operated Ca2+ entry (i...
July 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29349851/clinical-and-molecular-implications-of-structural-changes-to-desmosomes-and-corneodesmosomes
#9
REVIEW
Akemi Ishida-Yamamoto, Satomi Igawa, Mari Kishibe, Masaru Honma
Desmosomes provide the main intercellular adhesive properties between epidermal keratinocytes. Their distribution becomes uneven in severe dermatitis, multiple allergies and metabolic wasting syndrome due to desmoglein 1 deficiency and the loss of intercellular adhesion or acantholysis. When keratinocytes differentiate from granular cells into cornified cells, desmosomes are transformed into corneodesmosomes and can provide stronger intercellular adhesion. Degradation of corneodesmosomes is a tightly regulated process involving a number of proteases and their inhibitors...
April 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29159247/infliximab-therapy-for-netherton-syndrome-a-case-report
#10
Ângela Roda, Maria Mendonça-Sanches, Ana Rita Travassos, Luís Soares-de-Almeida, Dieter Metze
No abstract text is available yet for this article.
November 2017: JAAD Case Reports
https://www.readbyqxmd.com/read/29144034/considerations-in-surgical-management-of-a-buschke-lowenstein-tumor-in-netherton-syndrome-a-case-report
#11
REVIEW
Rosalind Ashton, Jamil Moledina, Branavan Sivakumar, Jemima E Mellerio, Anna E Martinez
Netherton syndrome is an autosomal recessive ichthyosis caused by mutations in SPINK5, with the classic triad of linearis circumflexa, trichorrhexis invaginata, and atopy. There are few reports of surgical management in individuals with Netherton syndrome and clinicians may be reluctant to operate for fear of wound-healing complications. This report describes a pediatric case of a Buschke-Lowenstein tumor of the natal cleft in a patient with Netherton syndrome that had failed to respond to medical management...
November 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29106927/desquamating-rash-in-a-patient-with-undiagnosed-netherton-syndrome
#12
Matthew A De Niear, Joseph Gigante
No abstract text is available yet for this article.
January 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/28943498/a-case-of-netherton-syndrome-with-mutation-in-spink5-and-flg
#13
LETTER
Zhen-Rui Shi, Min Xu, Guo-Zhen Tan, Liangchun Wang, Qing Guo, Zeng-Qi Tang
No abstract text is available yet for this article.
October 1, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28913623/updated-strategies-for-the-management-pathogenesis-and-molecular-genetics-of-different-forms-of-ichthyosis-syndromes-with-prominent-hair-abnormalities
#14
REVIEW
Madiha Rasheed, Shaheen Shahzad, Afifa Zaeem, Imran Afzal, Asma Gul, Sumbal Khalid
Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features...
December 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28832989/a-case-of-netherton-syndrome-with-intestinal-atresia-a-novel-spink5-mutation-and-a-fatal-course
#15
Mariela J Nevet, Margarita Indelman, Josef Ben-Ari, Reuven Bergman
No abstract text is available yet for this article.
October 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28717637/phage-therapy-in-a-16-year-old-boy-with-netherton-syndrome
#16
Pikria Zhvania, Naomi Sulinger Hoyle, Lia Nadareishvili, Dea Nizharadze, Mzia Kutateladze
Netherton syndrome (NS) is a rare autosomal recessive disorder, characterized by a classical triad of clinical features, including congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis coupled with frequent bacterial infections (1). The genetic basis for the disease has been recently identified with mutations in gene SPINK5, which is involved in the regulation of formation of skin barriers. We report on a 16-year-old male with all the typical manifestations of NS, including atopic diathesis and ongoing serious staphylococcal infections and allergy to multiple antibiotics whose family sought help at the Eliava Phage Therapy Center when all other treatment options were failing...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28686763/netherton-syndrome-in-association-with-vitamin-d-deficiency
#17
LETTER
Shannon Brown, Ashley De La Cerda, Matthew D Stephen
No abstract text is available yet for this article.
June 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28289593/is-c-1431-12g-a-a-common-european-mutation-of-spink5-report-of-a-patient-with-netherton-syndrome
#18
R Śmigiel, B Królak-Olejnik, D Śniegórska, A Rozensztrauch, A Szafrańska, M M Sasiadek, K Wertheim-Tysarowska
Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutations, the novel c.1816_1820+21delinsCT and possibly recurrent c.1431-12G>A. A detailed pathogenesis of Netherton Syndrome, on the basis of literature review, is discussed in the view of current knowledge about the LEKT1 molecular processing and activity...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28128111/netherton-s-syndrome
#19
M L Khatri, M Shafi
A 6 year old Libyan boy had diffuse erythema at birth and later developed pruritic, maculo-papular, papular, circinat c, double-edge, scaly lesions, suggestive of ichthyosis linearis circumflexa (ILC).Hisscalp hair were brittle and sparse with partial patchy alopecia, showing change of trichorrhexis invaginata, these -associations being characteristic of Netherton's syndrome. The boy had slightly stunted growth; a feature which has not been recorded in previously reported cases.
March 1989: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/28095415/klk5-and-klk7-ablation-fully-rescues-lethality-of-netherton-syndrome-like-phenotype
#20
Petr Kasparek, Zuzana Ileninova, Olga Zbodakova, Ivan Kanchev, Oldrich Benada, Karel Chalupsky, Maria Brattsand, Inken M Beck, Radislav Sedlacek
Netherton syndrome (NS) is a severe skin disease caused by the loss of protease inhibitor LEKTI, which leads to the dysregulation of epidermal proteases and severe skin-barrier defects. KLK5 was proposed as a major protease in NS pathology, however its inactivation is not sufficient to rescue the lethal phenotype of LEKTI-deficient mice. In this study, we further elucidated the in vivo roles of the epidermal proteases in NS using a set of mouse models individually or simultaneously deficient for KLK5 and KLK7 on the genetic background of a novel NS-mouse model...
January 2017: PLoS Genetics
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