Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing

British Journal of Dermatology

Volumn 146, Issue 3, 2002, Pages 495-499

  Muller F B ^a   Hausser I ^b   Berg, D ^c   Casper, C ^a   Maiwald, R ^d   Jung, A ^d   Jung, H ^d   Korge, B P ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^d Institute for Medical Genetics and Molecular Medicine   (Germany)

Author keywords

Generalized exfoliative erythroderma; Mutation; Netherton syndrome; Prenatal testing; Therapy

Indexed keywords

AGE; ARTICLE; CASE REPORT; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE SEVERITY; ERYTHRODERMA; EXFOLIATIVE DERMATITIS; GENE DELETION; GENETIC ANALYSIS; HUMAN; INFANT; LETHALITY; NETHERTON DISEASE; PREGNANCY; PRENATAL PERIOD; PRIORITY JOURNAL; RECURRENT DISEASE;

CARRIER PROTEINS; DERMATITIS, EXFOLIATIVE; FEMALE; FETAL DISEASES; FRAMESHIFT MUTATION; HAIR; HUMANS; INFANT, NEWBORN; MICROSCOPY, ELECTRON; PREGNANCY; PRENATAL DIAGNOSIS; SERINE PROTEINASE INHIBITORS; SKIN; SYNDROME;

EID: 0036277966     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2002.04625.x     Document Type: Article

References (15)

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2. Pathogenesis in trichorrhexis invaginata (bamboo hair)
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5. Severe congenital generalized exfoliative erythroderma in newborns and infants: A possible sign of Netherton syndrome
6. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
7. Kongenitale generalisierte exfoliative erythrodermie
8. Oleogranulomatous response in lymph nodes associated with emollient use in Netherton's syndrome
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11. Antileukoprotease in human skin: An antibiotic peptide constitutively produced by keratinocytes
12. LEKTI, a novel 15-domain type of human serine proteinase inhibitor
13. Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome
14. Netherton syndrome
15. The spectrum of pathogenic mutations in SPINK 5 in 19 families with Netherton Syndrome: Implications for mutation detection and first case of prenatal diagnosis