関: dominant epidermolysis bullosa dystrophica、dystrophic epidermolysis bullosa、recessive epidermolysis bullosa dystrophica

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/07/20 15:06:15」(JST)

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Epidermolysis bullosa dystrophica or Dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. "Butterfly children" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly.

Classification

Name	Locus & Gene	OMIM
Dominant dystrophic epidermolysis bullosa (DDEB) Also known as "Cockayne-Touraine disease", this variant is characterized by vesicles and bullae on the extensor surfaces of the extremities.^[1]^:558^[2]^:601	3p21.3 (COL7A1)	131750
Recessive dystrophic epidermolysis bullosa (RDEB) Also known as "Hallopeau–Siemens variant of epidermolysis bullosa"^[2] and "Hallopeau–Siemens disease",^[3] this variant results from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia.^[1]^:558–9^[2]^:601 It is named for François Henri Hallopeau and Hermann Werner Siemens.	11q22-q23 (COL7A1), 3p21.3 (MMP1)	226600
Epidermolysis bullosa dystrophica, pretibial	3p21.3 (COL7A1)	131850
Epidermolysis bullosa pruriginosa	3p21.3 (COL7A1)	604129
Epidermolysis bullosa with congenital localized absence of skin and deformity of nails	3p21.3 (COL7A1)	132000
Transient bullous dermolysis of the newborn (TBDN)	3p21.3 (COL7A1)	131705

Causes

DEB is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII).^[4] DEB-causing mutations can be either dominant or recessive.

Most families with family members with this condition have distinct mutations.^[5]

Collagen VII is a very large molecule (300 kDa) that dimerizes to form a semicircular looping structure: the anchoring fibril. Anchoring fibrils are thought to form a structural link between the epidermal basement membrane and the fibrillar collagens in the upper dermis.

Signs and symptoms

The deficiency in anchoring fibrils impairs the adherence between the epidermis and the underlying dermis. The skin of DEB patients is thus highly susceptible to severe blistering.

Collagen VII is also associated with the epithelium of the esophageal lining, and DEB patients may suffer from chronic scarring, webbing, and obstruction of the esophagus. Affected individuals are often severely malnourished due to trauma to the oral and esophageal mucosa and require feeding tubes for nutrition. They also suffer from iron-deficiency anemia of uncertain origin, which leads to chronic fatigue.

Open wounds on the skin heal slowly or not at all, often scarring extensively, and are particularly susceptible to infection. Many individuals bathe in a bleach and water mixture to fight off these infections.

The chronic inflammation leads to errors in the DNA of the affected skin cells, which in turn causes squamous cell carcinoma (SCC). The majority of these patients die before the age of 30, either of SCC or complications related to DEB.

Pathophysiology

In the absence of mutations of the COL7A1 gene, an autoimmune response against type VII collagen can result in an acquired form of epidermolysis bullosa called epidermolysis bullosa acquisita.^[6]

There exist other types of inherited epidermolysis bullosa, junctional epidermolysis bullosa and epidermolysis bullosa simplex, which are not related to type VII collagen deficiency. These arise from mutations in the genes encoding other proteins of the epidermis or the basement membrane at the junction between the epidermis and the dermis.^[7]

References

^ ^a ^b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ ^a ^b ^c Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 458. ISBN 1-4160-2999-0. |accessdate= requires |url= (help)
^ Varki R, Sadowski S, Uitto J, Pfendner E (March 2007). "Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes". J. Med. Genet. 44 (3): 181–92. doi:10.1136/jmg.2006.045302. PMC 2598021. PMID 16971478.
^ Csikós M, Szocs HI, Lászik A, et al. (May 2005). "High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa". Br. J. Dermatol. 152 (5): 879–86. doi:10.1111/j.1365-2133.2005.06542.x. PMID 15888141.
^ Mihai S, Sitaru C (2007). "Immunopathology and molecular diagnosis of autoimmune bullous diseases". J. Cell. Mol. Med. 11 (3): 462–81. doi:10.1111/j.1582-4934.2007.00033.x. PMID 17521373.
^ Fine JD, Eady RA, Bauer EA, et al. (2008). "Report of the Third International Consensus Meeting on Diagnosis and Classification of EB". J. Am. Acad. Dermatol. 58 (6): 931–50. doi:10.1016/j.jaad.2008.02.004. PMID 18374450.

External links

ebd at NIH/UW GeneTests
1959788591 at GPnotebook

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 表皮水疱症のマネージメントの概要 overview of the management of epidermolysis bullosa
2. 表皮水疱症の診断 diagnosis of epidermolysis bullosa
3. 表皮水疱症の疫学、病因、分類、および臨床的特徴 epidemiology pathogenesis classification and clinical features of epidermolysis bullosa
4. 後天性表皮水疱症 epidermolysis bullosa acquisita
5. 遺伝性皮膚症 the genodermatoses

English Journal

Use of a keratin-based hydrogel in the management of recessive dystrophic epidermolysis bullosa.

Than MP, Smith RA, Cassidy S, Kelly R, Marsh C, Maderal A, Kirsner RS.SourceChristchurch Hospital, Christchurch, New Zealand.
The Journal of dermatological treatment.J Dermatolog Treat.2013 Aug;24(4):290-1. doi: 10.3109/09546634.2011.654108. Epub 2012 Jan 21.
A new keratin-based hydrogel wound dressing was applied to the neck of a patient who was suffering from recessive dystrophic epidermolysis bullosa. A significant improvement was observed in the robustness of skin in this area: reduced propensity to blister and improved healing of blisters. The impro
PMID 22208480

A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.

Liu YH, Shang X, Li ZT, Wu YM, Li LF, Xu XM.SourceDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, People's Republic of China.
Gene.Gene.2013 Jul 25;524(2):377-80. doi: 10.1016/j.gene.2013.03.143. Epub 2013 Apr 25.
Pretibial epidermolysis bullosa (PEB) is an extremely rare subtype of dominant dystrophic epidermolysis bullosa (DDEB) caused by mutation of the COL7A1 gene. More than 730 mutations have been identified in patients with DDEB, but only five mutations have been found to be related to PEB. In this stud
PMID 23624125

Systemic protein therapy for recessive dystrophic epidermolysis bullosa: how far are we from clinical translation?

Hovnanian A.SourceUniversity Paris Descartes Sorbonne Paris Cité, Imagine Institute, Paris, France. alain.hovnanian@inserm.fr
The Journal of investigative dermatology.J Invest Dermatol.2013 Jul;133(7):1719-21. doi: 10.1038/jid.2013.137.
In this issue, Woodley et al. report restoration of anchoring fibril formation and dermal-epidermal adherence in a murine model of recessive dystrophic epidermolysis bullosa (RDEB) by intravenous injection of recombinant human type VII collagen. This work follows a previous report by the same group
PMID 23760051

Japanese Journal

Dilated cardiomyopathy complicating a case of epidermolysis bullosa dystrophica

BROOK MM.
Pediatr Dermatol. 6(1), 21-23, 1989
NAID 30035802876

Anaesthetic management in patients with epidermolysis bullosa dystrophica.

HAGEN R.
Anaesthesia 43, 482-485, 1988
NAID 30025904960

Successful prosthetic fitting of a patient with epidermolysis bullosa dystrophica. Case report

JAIN S. S.
Ameri. J. Phys. Med. and Rehab. 67, 104-107, 1988
NAID 30018710095

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リンク元	「栄養障害型表皮水疱症」
拡張検索	「dominant epidermolysis bullosa dystrophica」「recessive epidermolysis bullosa dystrophica」
関連記事	「dystrophic」「epidermolysis」

「栄養障害型表皮水疱症」

Epidermolysis bullosa dystrophica
	Classification and external resources
ICD-10	Q81.2
ICD-9	757.39
OMIM	131750
DiseasesDB	29580
MeSH	D016108

　　[★]

英: dystrophic epidermolysis bullosa, DEB
ラ: epidermolysis bullosa dystrophica
関: ジストロフィー型表皮水疱症、劣性栄養障害型表皮水疱症、優性栄養障害型表皮水疱症、表皮水疱症

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栄養障害性表皮水疱症 : 34 件
栄養障害型表皮水疱症 : 約 260,000 件

「dominant epidermolysis bullosa dystrophica」

　　[★]

優性栄養障害型表皮水疱症

関: dystrophic epidermolysis bullosa、epidermolysis bullosa dystrophica、recessive epidermolysis bullosa dystrophica

「recessive epidermolysis bullosa dystrophica」

　　[★]

劣性栄養障害型表皮水疱症

関: dominant epidermolysis bullosa dystrophica、dystrophic epidermolysis bullosa、epidermolysis bullosa dystrophica

「dystrophic」

　　[★]

adj.

ジストロフィーの、異栄養性の

関: dystrophy

「epidermolysis」

　　[★]

表皮溶解、表皮融解

[Andrews-1] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

[Fitz2-2] Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.

[Bolognia-3] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 458. ISBN 1-4160-2999-0. |accessdate= requires |url= (help)

[pmid16971478-4] Varki R, Sadowski S, Uitto J, Pfendner E (March 2007). "Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes". J. Med. Genet. 44 (3): 181–92. doi:10.1136/jmg.2006.045302. PMC 2598021. PMID 16971478.

[pmid15888141-5] Csikós M, Szocs HI, Lászik A, et al. (May 2005). "High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa". Br. J. Dermatol. 152 (5): 879–86. doi:10.1111/j.1365-2133.2005.06542.x. PMID 15888141.

[6] Mihai S, Sitaru C (2007). "Immunopathology and molecular diagnosis of autoimmune bullous diseases". J. Cell. Mol. Med. 11 (3): 462–81. doi:10.1111/j.1582-4934.2007.00033.x. PMID 17521373.

[7] Fine JD, Eady RA, Bauer EA, et al. (2008). "Report of the Third International Consensus Meeting on Diagnosis and Classification of EB". J. Am. Acad. Dermatol. 58 (6): 931–50. doi:10.1016/j.jaad.2008.02.004. PMID 18374450.

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案内

epidermolysis bullosa dystrophica