- 同
- EBS
WordNet
- unornamented; "a simple country schoolhouse"; "her black dress--simple to austerity"
- any herbaceous plant having medicinal properties
- (botany) of leaf shapes; of leaves having no divisions or subdivisions (同)unsubdivided
- having few parts; not complex or complicated or involved; "a simple problem"; "simple mechanisms"; "a simple design"; "a simple substance"
- having only one part or element; "a simplex word has no affixes and is not part of a compound--like `boy compared with `boyish or `house compared with `houseboat"
- allowing communication in only one direction at a time, or in telegraphy allowing only one message over a line at a time; "simplex system"
PrepTutorEJDIC
- 『簡単な』容易な,分かりやすい / (複合に対して)単一の / 『単純な』,込み入っていない / 『純然たる』,全くの / 『飾り気のない』,簡素な,地味な,質素な / 『もったいぶらない』;誠実な,実直な / お人よしの,だまされやすい / 《文》地位のない,普通の,平(ひら)の
- 薬草,薬用植物
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/11/04 19:21:02」(JST)
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| Epidermolysis bullosa simplex |
|
Epidermolysis bullosa simplex
|
| Classification and external resources |
| Specialty |
medical genetics |
| ICD-10 |
Q81.0 |
| ICD-9-CM |
757.39 |
| OMIM |
131900 131760 131800 131960 |
| DiseasesDB |
4334 |
| eMedicine |
derm/124 |
| MeSH |
D016110 |
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.[1]:598
Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.[citation needed]
Contents
- 1 Classification
- 2 See also
- 3 References
- 4 External links
Classification
Epidermolysis bullosa simplex may be divided into multiple types:
| Type |
Locus & Gene |
OMIM |
| Epidermolysis bullosa simplex with migratory circinate erythema |
12q13 (KRT5) |
609352 |
Epidermolysis bullosa simplex with mottled pigmentation.
- Associated with a recurrent mutation in KRT14.[2]:557[3][4]
|
12q13 (KRT5) |
131960 |
| Epidermolysis bullosa simplex, autosomal recessive |
17q12-q21 (KRT14) |
601001 |
Generalized epidermolysis bullosa simplex
- Also known as "Koebner variant of generalized epidermolysis bullosa simplex", presents at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present.[5]:598[2]:556
|
17q12-q21 (KRT5), 12q13 (KRT14) |
131900 |
Localized epidermolysis bullosa simplex
- Also known as "Weber–Cockayne syndrome,"[4]:460 and "Weber–Cockayne variant of generalized epidermolysis bullosa simplex", is characterized by onset in childhood or later in life, and is the most common variant of epidermolysis bullosa simplex.[5]:598[2]:557
|
17q12-q21 (KRT5), 17q11-qter, 12q13 (KRT14) |
131800 |
Epidermolysis bullosa herpetiformis
- Also known as "Dowling-Meara epidermolysis bullosa simplex", presents at birth with a generalized distribution, often with oral mucosa involvement and variable lesions in infancy.[5]:598[2]:557
|
17q12-q21 (KRT5), 12q13 (KRT14) |
131760 |
Epidermolysis bullosa simplex with muscular dystrophy
- A rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the Koebner variant of generalized epidermolysis bullosa simplex, but also associated with adult onset muscular dystrophy.[5]:598[2]:557[4]
|
8q24 (PLEC1) |
226670 |
| Epidermolysis bullosa simplex with pyloric atresia |
8q24 (PLEC1) |
612138 |
Epidermolysis bullosa simplex of Ogna
- Has onset in infancy, presenting with seasonal blistering on acral areas during summer months.[5]:598[2]:557[4]
|
8q24 (PLEC1) |
131950 |
-
Epidermolysis bullosa simplex
See also
- Epidermolysis bullosa
- List of cutaneous conditions caused by mutations in keratins
References
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ a b c d e f James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Harel, A, et al. "Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14." Journal of Investigative Dermatology. (2006) 126, 1654–1657. doi:10.1038/sj.jid.5700296; published online 6 April 2006. [1]
- ^ a b c d Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ a b c d e Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
External links
|
Wikimedia Commons has media related to Epidermolysis bullosa simplex. |
- GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex
|
Cytoskeletal defects
|
|
| Microfilaments |
| Myofilament |
| Actin |
- Hypertrophic cardiomyopathy 11
- Dilated cardiomyopathy 1AA
- DFNA20
- Nemaline myopathy 3
|
|
| Myosin |
- Elejalde syndrome
- Hypertrophic cardiomyopathy 1, 8, 10
- Usher syndrome 1B
- Freeman–Sheldon syndrome
- DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
- May-Hegglin anomaly
|
|
| Troponin |
- Hypertrophic cardiomyopathy 7, 2
- Nemaline myopathy 4, 5
|
|
| Tropomyosin |
- Hypertrophic cardiomyopathy 3
- Nemaline myopathy 1
|
|
| Titin |
- Hypertrophic cardiomyopathy 9
|
|
|
| Other |
- Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
- Filamin
- FG syndrome 2
- Boomerang dysplasia
- Larsen syndrome
- Terminal osseous dysplasia with pigmentary defects
|
|
|
| IF |
| 1/2 |
- Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
- Striate palmoplantar keratoderma 3
- Epidermolytic hyperkeratosis
- IHCM
- KRT2E (Ichthyosis bullosa of Siemens)
- KRT3 (Meesmann juvenile epithelial corneal dystrophy)
- KRT4 (White sponge nevus)
- KRT5 (Epidermolysis bullosa simplex)
- KRT8 (Familial cirrhosis)
- KRT10 (Epidermolytic hyperkeratosis)
- KRT12 (Meesmann juvenile epithelial corneal dystrophy)
- KRT13 (White sponge nevus)
- KRT14 (Epidermolysis bullosa simplex)
- KRT17 (Steatocystoma multiplex)
- KRT18 (Familial cirrhosis)
- KRT81/KRT83/KRT86 (Monilethrix)
- Naegeli–Franceschetti–Jadassohn syndrome
- Reticular pigmented anomaly of the flexures
|
|
| 3 |
- Desmin: Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy 1I
- Peripherin: Amyotrophic lateral sclerosis
|
|
| 4 |
- Neurofilament: Parkinson's disease
- Charcot–Marie–Tooth disease 1F, 2E
- Amyotrophic lateral sclerosis
|
|
| 5 |
- Laminopathy: LMNA
- Mandibuloacral dysplasia
- Dunnigan Familial partial lipodystrophy
- Emery-Dreifuss muscular dystrophy 2
- Limb-girdle muscular dystrophy 1B
- Charcot–Marie–Tooth disease 2B1
- LMNB
- Barraquer–Simons syndrome
- LEMD3
- Buschke–Ollendorff syndrome
- Osteopoikilosis
- LBR
- Pelger-Huet anomaly
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
|
|
| Microtubules |
| Kinesin |
- Charcot–Marie–Tooth disease 2A
- Hereditary spastic paraplegia 10
|
|
| Dynein |
- Primary ciliary dyskinesia
- Short rib-polydactyly syndrome 3
- Asphyxiating thoracic dysplasia 3
|
|
| Other |
- Tauopathy
- Cavernous venous malformation
|
|
|
| Membrane |
- Spectrin: Spinocerebellar ataxia 5
- Hereditary spherocytosis 2, 3
- Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
- Hereditary spherocytosis 1
|
|
| Catenin |
- APC
- Gardner's syndrome
- Familial adenomatous polyposis
- plakoglobin (Naxos syndrome)
- GAN (Giant axonal neuropathy)
|
|
| Other |
- desmoplakin: Striate palmoplantar keratoderma 2
- Carvajal syndrome
- Arrhythmogenic right ventricular dysplasia 8
- plectin: Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex of Ogna
- plakophilin: Skin fragility syndrome
- Arrhythmogenic right ventricular dysplasia 9
- centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
|
|
|
See also: cytoskeletal proteins
|
Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
|
|
|
UpToDate Contents
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English Journal
- Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.
- Gostyńska KB1, Nijenhuis M1, Lemmink H2, Pas HH1, Pasmooij AM1, Lang KK3, Castañón MJ4, Wiche G4, Jonkman MF5.
- Human molecular genetics.Hum Mol Genet.2015 Jun 1;24(11):3155-62. doi: 10.1093/hmg/ddv066. Epub 2015 Feb 24.
- PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons common to all isoforms. Due to the ubiquitous presence
- PMID 25712130
- Keratins Stabilize Hemidesmosomes through Regulation of β4-Integrin Turnover.
- Seltmann K1, Cheng F2, Wiche G3, Eriksson JE2, Magin TM1.
- The Journal of investigative dermatology.J Invest Dermatol.2015 Jun;135(6):1609-20. doi: 10.1038/jid.2015.46. Epub 2015 Feb 10.
- Epidermal integrity and wound healing depend on remodeling of cell-matrix contacts including hemidesmosomes. Mutations in β4-integrin and plectin lead to severe epidermolysis bullosa (EB). Whether mutations in keratins K5 or K14, which cause EB simplex, also compromise cell-matrix adhesion through
- PMID 25668239
- The rod domain is not essential for the function of plectin in maintaining tissue integrity.
- Ketema M1, Secades P1, Kreft M1, Nahidiazar L1, Janssen H1, Jalink K1, de Pereda JM2, Sonnenberg A3.
- Molecular biology of the cell.Mol Biol Cell.2015 May 13. pii: mbc.E15-01-0043. [Epub ahead of print]
- Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (EBS-MD) is an autosomal recessive disorder resulting from mutations in the plectin gene. The majority of these mutations occur within the large exon 31 encoding the central rod domain and leave the production of a low-level
- PMID 25971800
Japanese Journal
- 日本小児皮膚科学会雑誌 = Journal of pediatric dermatology 32(1), 35-40, 2013-02-28
- NAID 10031156289
- 日本小児皮膚科学会雑誌 = Journal of pediatric dermatology 31(2), 113-116, 2012-06-30
- NAID 10030802209
- Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys
Related Links
- Epidermolysis bullosa simplex is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected people inherit the mutation ...
- Epidermolysis Bullosa Definition Epidermolysis bullosa (EB) is a group of rare inherited skin diseases that are characterized by the development of blisters following minimal pressure to the skin. Blistering often appears in infancy in ...
Related Pictures
★リンクテーブル★
[★]
- 英
- epidermolysis bullosa simplex
- 関
- 単純性表皮水疱症
[★]
- 英
- epidermolysis bullosa simplex
- 関
- 単純型表皮水疱症
[★]
- 同
- epidermolysis bullosa simplex
[★]
- (比較級simpler-最上級simplest)単純な、簡便な、シンプルな、簡素な、単一の、単一性の、単純性の
- 関
- convenient、mono、parsimonious、plain、simplex、simplicity、simply、single、unity
[★]
- 関
- simple
[★]