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{{Infobox_Disease |
{{Infobox disease
  Name           = {{PAGENAME}} |
| Name           = Epidermolysis bullosa dystrophica
  Image         = |
| Image           =  
  Caption       = |
| Caption         = An eighteen month old toddler with DEB.
  DiseasesDB     = 29580 |
| DiseasesDB     = 29580  
  ICD10         = {{ICD10|Q|81|2|q|80}} |
| ICD10           = {{ICD10|Q|81|2|q|80}}  
  ICD9           = {{ICD9|757.39}} |
| ICD9           = {{ICD9|757.39}}  
  ICDO           = |
| ICDO           =  
  OMIM           = 131750 |
| OMIM           = 131750  
   MedlinePlus    = |
| MedlinePlus    =
  eMedicineSubj = |
| eMedicineSubj   =  
  eMedicineTopic = |
  | eMedicineTopic =  
  MeshID         = D016108 |
| MeshID         = D016108  
}}
}}
{{SI}}
__NOTOC__
__NOTOC__
{{CMG}};{{AE}} {{KS}}
{{CMG}};{{AE}} {{KS}}
==Overview==
==Overview==
'''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.


'''Epidermolysis bullosa dystrophica''' or '''Dystrophic EB''' (DEB) forms which can lead to [[scarring]] occur in a deeper tissue level; the sub-lamina densa region (the beneath the [[lamina densa]]) within the upper dermis. The disease DEB is caused by genetic defects (or mutations) within the molecule type VII [[collagen]] ([[collagen VII]]). Collagen VII is a very large molecule (780 nm) that [[dimerizes]] to forms 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]].
==Classification==
{| class="wikitable"
|-
! Name
! Locus & Gene
! [[OMIM]]
|-
| ''Dominant dystrophic epidermolysis bullosa'' (DDEB)
: Also known as "Cockayne-Touraine disease", this variant is characterized by vesicles and [[Bulla (dermatology)|bullae]] on the extensor surfaces of the extremities.<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.</ref>{{rp|558}}<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.</ref>{{rp|601}}
| 3p21.3 ([[COL7A1]])
| {{OMIM2|131750}}
|-
| ''Recessive dystrophic epidermolysis bullosa'' (RDEB)
: Also known as "Hallopeau–Siemens variant of epidermolysis bullosa"<ref name="Fitz2" /> and "Hallopeau–Siemens disease",<ref name="Bolognia">{{cite book |author=Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=458 |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=2010-01-04}}</ref> this variant results from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia.<ref name="Andrews"/>{{rp|558–9}}<ref name="Fitz2"/>{{rp|601}} It is named for [[François Henri Hallopeau]] and [[Hermann Werner Siemens]].
| 11q22-q23 ([[COL7A1]]), 3p21.3 ([[MMP1]])  
| {{OMIM2|226600}}
|-
| ''Epidermolysis bullosa dystrophica, pretibial''
| 3p21.3 ([[COL7A1]])
| {{OMIM2|131850}}
|-
| ''Epidermolysis bullosa pruriginosa''
| 3p21.3 ([[COL7A1]])
| {{OMIM2|604129}}
|-
| ''Epidermolysis bullosa with congenital localized absence of skin and deformity of nails''
| 3p21.3 ([[COL7A1]])
| {{OMIM2|132000}}
|-
| ''Transient bullous dermolysis of the newborn'' (TBDN)
| 3p21.3 ([[COL7A1]])
| {{OMIM2|131705}}
|}


Collagen VII is also present in the epithelial tissue of the esophagus, which leads to chronic scarring, webbing, and obstruction. 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.
==Causes==
DEB is caused by genetic defects (or [[mutation]]s) within the [[Collagen, type VII, alpha 1|human COL7A1 gene]] encoding the [[protein]] type VII collagen (collagen VII).<ref name="pmid16971478">{{cite journal |author=Varki R, Sadowski S, Uitto J, Pfendner E |title=Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes |journal=J. Med. Genet. |volume=44 |issue=3 |pages=181–92 |date=March 2007 |pmid=16971478 |doi=10.1136/jmg.2006.045302 |url=http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=16971478 |pmc=2598021}}</ref> DEB-causing mutations can be either [[Dominance (genetics)|dominant]] or [[Dominance (genetics)|recessive]].
 
Most families with family members with this condition have distinct mutations.<ref name="pmid15888141">{{cite journal |author=Csikós M, Szocs HI, Lászik A, ''et al.'' |title=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 |journal=Br. J. Dermatol. |volume=152 |issue=5 |pages=879–86 |date=May 2005 |pmid=15888141 |doi=10.1111/j.1365-2133.2005.06542.x |url=http://www3.interscience.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0007-0963&date=2005&volume=152&issue=5&spage=879}}</ref>
 
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 [[collagen]]s in the upper [[dermis]].
 
==Signs and symptoms==
The deficiency in anchoring fibrils impairs the adherence between the [[Epidermis (skin)|epidermis]] and the underlying dermis. The skin of DEB patients is thus highly susceptible to severe [[blister]]ing.
 
Collagen VII is also associated with the [[epithelium]] of the [[Esophagus|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.
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.
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.
==Diagnosis==
 
==Pathophysiology==
In the absence of mutations of the [[Collagen, type VII, alpha 1|COL7A1 gene]], an [[Autoimmunity|autoimmune]] response against type VII collagen can result in an acquired form of epidermolysis bullosa called epidermolysis bullosa acquisita.<ref>{{cite journal  | author=Mihai S, Sitaru C |title=Immunopathology and molecular diagnosis of autoimmune bullous diseases |journal=J. Cell. Mol. Med. |volume=11 |issue=3 |pages=462–81 |year=2007 |pmid=17521373 |doi=10.1111/j.1582-4934.2007.00033.x}}</ref>
 
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 (skin)|epidermis]] or the [[basement membrane]] at the junction between the epidermis and the [[dermis]].<ref>{{cite journal  | author=Fine JD, Eady RA, Bauer EA, ''et al.'' |title=Report of the Third International Consensus Meeting on Diagnosis and Classification of EB |journal=J. Am. Acad. Dermatol. |volume=58 |issue=6 |pages=931–50 |year=2008 |pmid=18374450 |doi=10.1016/j.jaad.2008.02.004}}</ref>
===Physical Examination===
===Physical Examination===
====Skin====
====Skin====
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=====Epidermolysis bullosa dystrofic dominant=====
=====Epidermolysis bullosa dystrofic dominant=====
<gallery>
<gallery>
Image:Epidermolysis bullosa dystrofic dominant01.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant02.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant03.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant04.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant05.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant06.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant07.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant08.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant09.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant10.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant11.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant12.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant13.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant14.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant15.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant16.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant17.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic dominant18.jpg|Epidermolysis bullosa dystrofic dominant. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
</gallery>
=====Epidermolysis bullosa dystrofic recessive=====
======Extremities======
<gallery>
Image:Epidermolysis bullosa dystrofic recessive03.jpg|Epidermolysis bullosa dystrofic recessive. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic recessive04.jpg|Epidermolysis bullosa dystrofic recessive. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic recessive05.jpg|Epidermolysis bullosa dystrofic recessive. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic recessive06.jpg|Epidermolysis bullosa dystrofic recessive. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Epidermolysis bullosa dystrofic recessive07.jpg|Epidermolysis bullosa dystrofic recessive. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>




</gallery>
</gallery>
=====Trunk=====
<gallery>
Image:Epidermolysis bullosa dystrofic recessive08.jpg|Epidermolysis bullosa dystrofic recessive. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
</gallery>
<gallery>
Image:Epidermolysis bullosa dystrofic recessive01.jpg|Epidermolysis bullosa dystrofic recessive. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
</gallery>
==See also==
* [[Epidermolysis bullosa]]


==References==
==References==
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* {{GPnotebook|1959788591}}
* {{GPnotebook|1959788591}}


{{disease-stub}}
{{Congenital malformations and deformations of integument}}
{{Congenital malformations and deformations of integument}}
{{WikiDoc Sources}}
{{Collagen disease}}
 
[[Category:Genodermatoses]]
[[Category:Collagen disease]]==Diagnosis==

Latest revision as of 14:34, 20 July 2015

Epidermolysis bullosa dystrophica
Classification and external resources
An eighteen month old toddler with DEB.
ICD-10 Q81.2
ICD-9 757.39
OMIM 131750
DiseasesDB 29580
MeSH D016108

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Kiran Singh, M.D. [2]

Overview

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]

Physical Examination

Skin

Epidermolysis bullosa pruriginosa
Scalp
Neck
Trunk
Extremities
Epidermolysis bullosa dystrofic dominant
Epidermolysis bullosa dystrofic recessive
Extremities
Trunk

See also

References

  1. ↑ 1.0 1.1 James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ↑ 2.0 2.1 2.2 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  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. |access-date= requires |url= (help)
  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.
  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.
  8. ↑ 8.00 8.01 8.02 8.03 8.04 8.05 8.06 8.07 8.08 8.09 8.10 8.11 8.12 8.13 8.14 8.15 8.16 8.17 8.18 8.19 8.20 8.21 8.22 8.23 8.24 8.25 8.26 8.27 8.28 8.29 8.30 8.31 8.32 8.33 8.34 8.35 8.36 8.37 8.38 8.39 8.40 8.41 8.42 8.43 8.44 8.45 8.46 8.47 8.48 8.49 8.50 8.51 8.52 8.53 8.54 8.55 8.56 8.57 "Dermatology Atlas".

External links

Template:Congenital malformations and deformations of integument Template:Collagen disease==Diagnosis==

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