Immunofluorescence analysis of villous trophoblasts: A tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia

Journal of Investigative Dermatology

Volumn 128, Issue 12, 2008, Pages 2815-2819

  D'Alessio, Marina ^a   Zambruno, Giovanna ^a   Charlesworth, Alexandra ^b,c   Lacour, Jean Philippe ^b,c,d   Meneguzzi, Guerrino ^b,c  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b INSERM   (France)

^c UNIVERSITÉ CÔTE D'AZUR   (France)

^d UNIVERSITY HOSPITAL OF NICE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA6BETA4 INTEGRIN; PLECTIN;

ARTICLE; ATRESIA; CHORION VILLUS; CLINICAL ARTICLE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA HEREDITARIA; FETUS; FIRST TRIMESTER PREGNANCY; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; INHERITANCE; NUCLEOTIDE SEQUENCE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PYLORIC ATRESIA; PYLORUS; RISK FACTOR; TROPHOBLAST;

BASEMENT MEMBRANE; CHORIONIC VILLI; COHORT STUDIES; EPIDERMOLYSIS BULLOSA; FEMALE; HUMANS; INTEGRINS; MICROSCOPY, FLUORESCENCE; MODELS, GENETIC; MUTATION; PLECTIN; PREGNANCY; PRENATAL DIAGNOSIS; PYLORUS; TROPHOBLASTS;

EID: 57349111075     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2008.143     Document Type: Article

References (17)

1. Aplin JD (1993) Espression of integrin alpha6 beta4 in human trophoblast and its loss from extravillous cells. Placenta 14:203-15
2. Azarian M, Dreux S, Vuillard E, Meneguzzi G, Haber S, Guimiot F et al. (2006) Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review. Prenat Diagn 26:57-9
3. Damsky CH, Fitzgerald ML, Fisher SJ (1992) Distribution patterns of extracellular matrix components and adhesion receptors are intricately modulated during first trimester cytotrophoblast differentiation along the invasive pathway in vivo. J Clin Invest 89:210-22
4. Fassihi H, Eady RA, Mellerio JE, Ashton GHS, Dopping-Hepenstal PJC, Denyer JE et al. (2006) Prenatal diagnosis for severe inherited skin disorders: 25 years' experience. Br J Dermatol 154:106-13
5. Fine JD, Eady RA, Bauer EA, Briggaman RA, Bruckner-Tuderman L, Christiano A et al. (2000) Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on Diagnosis and Classification of Epidermolysis Bullosa. J Am Acad Dermatol 42:1051-66
6. Green KJ, Jones JCR (1996) Desmosomes and hemidesmosomes: structure and function of molecular components. FASEB J 10:871-81
7. Has C, Bruckner-Tuderman L (2006) Molecular and diagnostic aspects of genetic skin fragility. J Dermatol Sci 44:129-44
8. Holbrook KA, Amith LA, Elias S (1993) Prenatal diagnosis of genetic skin disease using fetal skin biopsy sample. Arch Dermatol 129:1437-54
9. Kanitakis J, Zambruno G, Viac J, Tommaselli L, Thivolet J (1989) Expression of an estrogen receptor-associated protein (p29) in epithelial tumors of the skin. J Cutan Pathol 16:272-6
10. Korhonen M, Virtanen I (2001) Immunohistochemical localization of laminin and fibronectin isoforms in human placental villi. J Histochem Cytochem 49:313-22
11. Lepinard C, Descamps P, Meneguzzi G, Blanchet-Bardon C, Germain DP, Larget-Piet L et al. (2000) Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk. Prenat Diagn 20:70-5
12. McMillan JR, Akiyama M, Rouan F, Mellerio JE, Lane EB, Leigh IM et al. (2007) Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. Muscle Nerve 35:24-35
13. Rodeck CH, Eady RA, Gosden CM (1980) Prenatal diagnosis of epidermolysis bullosa lethalis. Lancet 1:949-52
14. Scaturro M, Posteraro P, Mastrogiacomo A, Zaccaria ML, De Luca N, Mazzanti C et al (2003) A missense mutation (G1506E) in the adhesion G domain of laminin 5 causes mild junctional epidermolysis bullosa. Biochem Biophys Res Commun 309:96-103
15. Uitto J, Richard G (2005) Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol 23:33-40
16. Varki R, Sadowski S, Pfendner E, Uitto J (2006) Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 43:641-52
17. Varki R, Sadowski S, Uitto J, Pfendner E (2007) Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet 44:181-92