表皮水疱症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
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- 1. 表皮水疱症のマネージメントの概要overview of the management of epidermolysis bullosa [show details]
… carcinoma . The management of epidermolysis bullosa (EB) patients is largely supportive and involves a multidisciplinary team, usually composed of a dermatologist, an EB nurse, a primary care provider …
- 2. 表皮水疱症の診断diagnosis of epidermolysis bullosa [show details]
… microscopy) Australian EB Diagnostic Laboratory, Department of Anatomical Pathology, SEALS, St. George Hospital, Sydney (Dr. D. Murrell) Four major types of epidermolysis bullosa (EB) are recognized on …
- 3. 遺伝性皮膚疾患:概要the genodermatoses an overview [show details]
…of the layers of the epidermis underlie the congenital blistering disorders (ie, the epidermolysis bullosa syndromes), in which blister formation occurs with little or no trauma Congenital defects in …
- 4. Epidermolysis bullosa: Epidemiology, pathogenesis, classification, and clinical featuresepidermolysis bullosa epidemiology pathogenesis classification and clinical features [show details]
… prevalence and incidence of EB are derived from the National Epidermolysis Bullosa Registry (NEBR), which collected cross-sectional and longitudinal data on approximately 3300 EB patients from 1986 through …
- 5. 後天性表皮水疱症epidermolysis bullosa acquisita [show details]
… disorder reminiscent of recessive dystrophic epidermolysis bullosa (RDEB), EBA and epidermolysis bullosa are distinct diseases. RDEB is a hereditary disease that results from mutations in the COL7A1 gene that …
English Journal
- Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis).
- Galler B1, Bowen C1, Arnold J2, Kobayashi T1, Dalton SR1.
- Journal of cutaneous pathology.J Cutan Pathol.2016 May;43(5):434-437. doi: 10.1111/cup.12680. Epub 2016 Apr 4.
- Frozen section is a valuable tool that is often underutilized in the setting of in-patient dermatology. Traditionally, frozen section has been used in dermatology to diagnose toxic epidermal necrolysis, with some additional utility in staphylococcal scalded skin syndrome in the new born period. We r
- PMID 26969483
- Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa.
- He Y1, Balasubramanian M2, Humphreys N3, Waruiru C3, Brauner M4, Kohlhase J4, O'Reilly R3, Has C5.
- The Journal of investigative dermatology.J Invest Dermatol.2016 May;136(5):1056-9. doi: 10.1016/j.jid.2015.11.031. Epub 2016 Feb 15.
- PMID 26854491
- Single Amino Acid Deletion in Kindlin-1 Results in Partial Protein Degradation Which Can Be Rescued by Chaperone Treatment.
- Maier K1, He Y2, Esser PR2, Thriene K3, Sarca D2, Kohlhase J4, Dengjel J3, Martin L5, Has C6.
- The Journal of investigative dermatology.J Invest Dermatol.2016 May;136(5):920-9. doi: 10.1016/j.jid.2015.12.039. Epub 2016 Jan 28.
- Kindler syndrome, a distinct type of epidermolysis bullosa, is a rare disorder caused by mutations in FERMT1, encoding kindlin-1. Most FERMT1 mutations lead to premature termination codons and absence of kindlin-1. Here we investigated the molecular and cellular consequences of a naturally occurring
- PMID 26827766
Japanese Journal
- Nailfold capillaroscopic changes in Kindler syndrome
- Genetic skin diseases related to desmosomes and corneodesmosomes.
- Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome
Related Links
- Kindler’s syndrome is a very rare form of epidermolysis bullosa (EB), caused by mutation in the FERMT1 gene that result in blistering and fragile skin early in infancy. ... Kindler’s syndrome is a very rare form of epidermolysis bullosa
- Mutations in the COL7A1 gene cause all three major forms of dystrophic epidermolysis bullosa. This gene provides instructions for making a protein that is used to assemble type VII collagen. Collagens are molecules ...
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- epidermolysis bullosa syndrome
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- バート症候群
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