| Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome. | |
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MedLine Citation:
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PMID: 15347338 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The congenital erythrodermas represent a heterogeneous group of inherited and acquired disorders often accompanied by systemic infections, impaired epidermal barrier function and concomitant life-threatening fluid and electrolyte imbalance. In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome. |
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Authors:
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E Sprecher; A Tesfaye-Kedjela; P Ratajczak; R Bergman; G Richard |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Clinical and experimental dermatology Volume: 29 ISSN: 0307-6938 ISO Abbreviation: Clin. Exp. Dermatol. Publication Date: 2004 Sep |
Date Detail:
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Created Date: 2004-09-06 Completed Date: 2004-12-30 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7606847 Medline TA: Clin Exp Dermatol Country: England |
Other Details:
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Languages: eng Pagination: 513-7 Citation Subset: IM |
Affiliation:
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Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel. e_sprecher@rambam.health.gov.il |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Carrier Proteins / genetics* DNA Mutational Analysis / methods Dermatitis, Exfoliative / genetics, pathology Diagnosis, Differential Hair / abnormalities*, pathology Humans Ichthyosiform Erythroderma, Congenital / diagnosis*, genetics Ichthyosis / diagnosis*, genetics, pathology Male Mutation Proteinase Inhibitory Proteins, Secretory Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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AR38923/AR/NIAMS NIH HHS; AR47157/AR/NIAMS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/Proteinase Inhibitory Proteins, Secretory; 0/SPINK5 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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