|3.||Epidermolysis Bullosa Dystrophica (Dystrophic Epidermolysis Bullosa)
|5.||Bullous Pemphigoid (Pemphigoid)
|1.||Bruckner-Tuderman, Leena: 8 articles (03/2014 - 01/2002)|
|2.||Zambruno, G: 7 articles (01/2008 - 11/2000)|
|3.||Schneider, Holm: 6 articles (09/2011 - 10/2002)|
|4.||Meneguzzi, Guerrino: 6 articles (01/2006 - 09/2002)|
|5.||Uitto, Jouni: 5 articles (06/2008 - 01/2002)|
|6.||Meneguzzi, G: 5 articles (06/2005 - 02/2000)|
|7.||Bauer, J W: 4 articles (02/2015 - 01/2003)|
|8.||McGrath, John A: 4 articles (03/2014 - 09/2003)|
|9.||Has, Cristina: 4 articles (03/2014 - 12/2005)|
|10.||Pas, H H: 4 articles (08/2009 - 06/2001)|
02/01/1994 - "Previous studies have correlated the Herlitz junctional epidermolysis bullosa (H-JEB) to an altered expression of the basement membrane component nicein/kalinin. "
01/01/2013 - "Laminin 332 in junctional epidermolysis bullosa."
12/01/2008 - "Deficiency of the basement membrane component laminin-5 (LAM5) causes junctional epidermolysis bullosa (JEB), a severe and often fatal skin adhesion defect. "
06/01/2008 - "Junctional epidermolysis bullosa (JEB) is an inherited mechanobullous disease characterized by reduced adherence of the epidermal keratinocytes to the underlying dermis, and is often caused by the absence of functional laminin 332 due to the lack or dysfunction of its beta3 chain. "
01/01/2008 - "Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population."
|3.||Eosine Yellowish-(YS) (Eosin)IBA
|4.||Phenytoin (Dilantin)FDA LinkGeneric
09/01/1988 - "To determine the possible efficacy of this drug in junctional forms of this disease, we treated four children (two with generalized atrophic benign EB [GABEB] and two with Herlitz disease) with two 16- to 20-week treatment periods with phenytoin separated by an eight- to 12-week drug-free period. "
09/01/1988 - "Efficacy of systemic phenytoin in the treatment of junctional epidermolysis bullosa."
02/01/1985 - "Phenytoin and junctional epidermolysis bullosa."
11/01/1983 - "Phenytoin therapy for junctional epidermolysis bullosa."
08/01/1982 - "Epidermolysis bullosa letalis and phenytoin."
|5.||Nonsense Codon (Nonsense Mutation)IBA
02/01/1998 - "In this study, we performed genetic analyses in two unrelated Japanese families with Herlitz junctional epidermolysis bullosa and identified two novel nonsense mutations in the LAMB3 gene. "
09/01/2011 - "This report describes a patient with junctional epidermolysis bullosa who was expected to die because of compound heterozygous nonsense mutations in the gene LAMA3 (R943X/R1159X), but was rescued by spontaneous read-through of the R943X allele. "
12/01/1998 - "Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa."
12/01/1998 - "Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing."
04/01/1996 - "A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect."
|6.||DNA (Deoxyribonucleic Acid)IBA
04/01/1996 - "In this study, we searched for mutations in these genes in two patients with nonlethal forms of junctional epidermolysis bullosa using polymerase chain reaction amplification of genomic DNA, followed by heteroduplex analysis and direct automated nucleotide sequencing. "
03/01/2005 - "This is the first reported case of DNA analysis in a twin pregnancy at risk of Herlitz junctional epidermolysis bullosa, with successful diagnosis and selective termination of one affected twin."
03/01/2005 - "Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. "
03/01/2001 - "DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa."
04/01/1995 - "We also report a direct DNA-based prenatal exclusion of Herlitz junctional epidermolysis bullosa in a pregnancy at risk using a chorionic villus biopsy and allele-specific oligomer hybridization from polymerase chain reaction-amplified genomic DNA."
|7.||collagen type XVII (collagen XVII)IBA
01/01/2001 - "In this study we describe six Italian patients presenting an unusually mild variant of non-Herlitz junctional epidermolysis bullosa associated with a reduced expression of type XVII collagen. "
05/01/2012 - "Mutations in the type XVII collagen gene (COL17A1) result in the blistering disorder non-Herlitz junctional epidermolysis bullosa (JEB-nH). "
01/01/2010 - "Collagen XVII has been identified as having a role in inherited junctional epidermolysis bullosa non-Herlitz (JEB-other, MIM #226650). "
09/01/2009 - "Collagen XVII (COL17) participates in keratinocyte adhesion and possibly migration, as COL17 defects disrupt keratinocyte-basal lamina adhesion and underlie the disease non-Herlitz junctional epidermolysis bullosa. "
05/01/2007 - "Mutations in the gene COL17A1 coding for type XVII collagen cause non-Herlitz junctional epidermolysis bullosa (nH-JEB). "
10/01/2003 - "Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa."
06/10/2003 - "Patients afflicted with severe laminin 5-deficient junctional epidermolysis bullosa (JEB) often die in infancy with massive cutaneous blistering. "
02/15/1996 - "We have determined the structure of the human laminin gamma 2 chain gene (LAMC2), which is mutated in some patients with junctional epidermolysis bullosa. "
11/01/1995 - "Moreover, recent studies showing that subunits of this laminin isoform are mutated in some patients with Herlitz's junctional epidermolysis bullosa indicate that acquired or inherited abnormalities in this adhesion ligand are associated with skin diseases characterized by separation of epidermis from epidermal BM."
09/01/2002 - "Our results also show that: (i) the horse junctional epidermolysis bullosa genetically corresponds to the severe Herlitz form of junctional epidermolysis bullosa in man; (ii) the amino acid sequence and structure of the horse laminin gamma2 chain are virtually identical to the human counterpart; (iii) the moderate eruption of skin blisters in the affected animals with respect to the human Herlitz junctional epidermolysis bullosa patients correlates with the protection provided by hair. "
07/01/2007 - "Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects."
12/01/2002 - "Antigen mapping of a skin biopsy showed a split within the lamina lucida of the epidermal basement membrane zone and junctional epidermolysis bullosa (JEB) was diagnosed within the first 3 weeks of life. "
08/01/1996 - "The expression of basement membrane-related antigens was surveyed in 2 Japanese siblings who died of pyloric atresia-junctional epidermolysis bullosa syndrome in early infancy. "
01/01/1995 - "Altered expression of a new antigen of the dermal-epidermal junction (NU-T2 DEJ Ag) in junctional epidermolysis bullosa."
07/07/1988 - "Furthermore, the ability to modulate this antigen may be relevant for the understanding of the molecular defect involved in lethal junctional epidermolysis bullosa."
10/01/2003 - "In this study we examined two unrelated patients affected with the lethal variant of junctional epidermolysis bullosa with pyloric atresia (PA-JEB) who were found to carry mutations in the integrin beta4 subunit gene (ITGB4). "
01/01/2015 - "Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa."
10/01/2004 - "Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia."
01/01/2004 - "Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4)."
10/01/2003 - "Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia."
|2.||Hematopoietic Stem Cell Transplantation
|4.||Skin Transplantation (Skin Grafting)
|5.||Segmental Mastectomy (Lumpectomy)