Herlitz Junctional Epidermolysis Bullosa

Dermatologic Clinics

Volumn 28, Issue 1, 2010, Pages 55-60

  Laimer, Martin ^a   Lanschuetzer, Christoph M ^a   Diem, Anja ^a   Bauer, Johann W ^a  

^a St Johanns Spital   (Austria)

Author keywords

Herlitz epidermolysis bullosa; Laminin 332; Mutation analysis

Indexed keywords

ADRENALIN; ANALGESIC AGENT; ANTIBIOTIC AGENT; DEXAMETHASONE; MITOMYCIN C; NARCOTIC ANALGESIC AGENT; SEDATIVE AGENT;

AIRWAY OBSTRUCTION; AUTOSOMAL RECESSIVE INHERITANCE; BASEMENT MEMBRANE; BLISTER; CHRONIC OTITIS MEDIA; DIET SUPPLEMENTATION; DIFFERENTIAL DIAGNOSIS; ENAMEL HYPOPLASIA; EPIDERMOLYSIS BULLOSA; GENE MUTATION; GRANULATION TISSUE; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; MOLECULAR GENETICS; MOUTH DISEASE; MUTATIONAL ANALYSIS; PIGMENT DISORDER; PRIORITY JOURNAL; QUALITY OF LIFE; REVIEW; SCAR FORMATION; SKIN FRAGILITY; SQUAMOUS CELL CARCINOMA; ULTRASTRUCTURE ANALYSIS AND ELECTRON MICROSCOPY; URETHRA STENOSIS;

CELL ADHESION MOLECULES; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; HUMANS; LAMININ; SKIN;

EID: 70450239765     PISSN: 07338635     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.det.2009.10.006     Document Type: Review

References (16)

1. Castori M., Floriddia G., De Luca N., et al. Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. Br J Dermatol 158 (2008) 38-44
2. Fine J.D. Epidemiology of inherited epidermolysis bullosa. In: Fine J.D., and Hintner H. (Eds). Life with epidermolysis bullosa (EB): etiology, diagnosis, multidisciplinary care and therapy (2008), Springer, Wien-New York 24-29
3. Fine J.D., Johnson L.B., Suchindran C., et al. The national epidermolysis bullosa registry. In: Fine J.D., Bauer E.A., McGuire J., et al. (Eds). Epidermolysis bullosa. Clinical, epidemiologic, and laboratory findings of the national epidermolysis bullosa registry (1999), The Johns Hopkins University Press, Baltimore (MD) 79-100
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15. Klausegger A., and Bauer J.W. Mutation analysis. In: Fine J.D., and Hintner H. (Eds). Life with epidermolysis bullosa (EB): etiology, diagnosis, multidisciplinary care and therapy (2008), Springer, Wien-New York 54-64
16. Castori M., Floriddia G., Pisaneschi E., et al. Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. J Dermatol Sci 51 (2008) 58-61