epidermolysis bullosa syndrome

表皮水疱症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (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

UpToDate Contents

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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

• Intractable & Rare Diseases Research 4(4), 214-216, 2015
• NAID 130005109606

• Genetic skin diseases related to desmosomes and corneodesmosomes.

• Journal of Dermatological Science 74(2), 99-105, 2014-05
• NAID 120005530879

• Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome

• Journal of dermatological science 61(1), 38-44, 2011-01-01
• NAID 10030889702

Related Links

• Kindler Syndrome - Epidermolysis Bullosa News

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

• Dystrophic epidermolysis bullosa - Genetics Home Reference ...

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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★リンクテーブル★

リンク元	「表皮水疱症候群」
関連記事	「epidermolysis」「syndrome」

「表皮水疱症候群」

　　[★]

英

epidermolysis bullosa syndrome

関

バート症候群

「epidermolysis」

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• 表皮溶解、表皮融解

「syndrome」

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• n.

• 症候群