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1. 表皮水疱症の疫学、病因および臨床的特徴 epidemiology pathogenesis and clinical features of epidermolysis bullosa

Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability.

Akaksa E1, Nakano H1, Takagi Y1, Toyomaki Y1, Sawamura D1.
Pediatric dermatology.Pediatr Dermatol.2016 Dec 23. doi: 10.1111/pde.13047. [Epub ahead of print]
We report a Japanese pedigree with dominant dystrophic epidermolysis bullosa (DDEB) harboring the p.G2251E mutation of COL7A1. The proband of this pedigree presented with multiple milia as an isolated skin manifestation without a history of blistering and subsequently developed generalized intractab
PMID 28008652

Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.

Montaudié H1, Chiaverini C2,3, Sbidian E4, Charlesworth A3, Lacour JP2,3.
Orphanet journal of rare diseases.Orphanet J Rare Dis.2016 Aug 20;11(1):117. doi: 10.1186/s13023-016-0489-9.
BACKGROUND: Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Level of cleavage in the skin, clinical features with immunofluorescence antigen ma
PMID 27544590

Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa.

Shinkuma S1, Guo Z2, Christiano AM3.
Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2016 May 17;113(20):5676-81. doi: 10.1073/pnas.1512028113. Epub 2016 May 3.
Genome editing with engineered site-specific endonucleases involves nonhomologous end-joining, leading to reading frame disruption. The approach is applicable to dominant negative disorders, which can be treated simply by knocking out the mutant allele, while leaving the normal allele intact. We app
PMID 27143720

弘前医学 59(1), 33-40, 2007-11-15
… DEB cases are divided into dominant dystrophic EB (DDEB)and recessive dystrophic EB (RDEB). … Most of the DDEB cases are induced by glycine substitution (GS) mutationbecause of its dominant negative effect, although there are silent GS which are not pathogenic without combinationof other mutation in COL7Al. … Case 1 is DDEB, which does not resultfrom GS but from insertion/deletion mutation. …
NAID 80018120326

間山真美子,玉井克人,深井和吉 [他],中川俊文,原田研,中野創,花田勝美,橋本功,澤村大輔
弘前醫學 59(1), 33-40, 2007
… DEB cases are divided into dominant dystrophic EB (DDEB) and recessive dystrophic EB (RDEB). … Most of the DDEB cases are induced by glycine substitution (GS) mutation because of its dominant negative effect, although there are silent GS which are not pathogenic without combination of other mutation in COL7Al. … Case 1 is DDEB, which does not result from GS but from insertion/deletion mutation. …
NAID 110006573911

村井孝弥,玉井克人,中野創 [他],花田勝美,橋本功,澤村大輔
弘前醫學 59(1), 15-22, 2007
… DEB is inherited in either an autosomal dominant (DDEB) or recessive (RDEB)fashion. … DDEB basically results from a glycine substitution mutation within the collagenous domain on one COL7A1allele. …
NAID 110006573903