Epidermolysis bullosa dystrophica

	WikiDoc Resources for Epidermolysis bullosa dystrophica
Articles
Most recent articles on Epidermolysis bullosa dystrophica Most cited articles on Epidermolysis bullosa dystrophica Review articles on Epidermolysis bullosa dystrophica Articles on Epidermolysis bullosa dystrophica in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Epidermolysis bullosa dystrophica Images of Epidermolysis bullosa dystrophica Photos of Epidermolysis bullosa dystrophica Podcasts & MP3s on Epidermolysis bullosa dystrophica Videos on Epidermolysis bullosa dystrophica
Evidence Based Medicine
Cochrane Collaboration on Epidermolysis bullosa dystrophica Bandolier on Epidermolysis bullosa dystrophica TRIP on Epidermolysis bullosa dystrophica
Clinical Trials
Ongoing Trials on Epidermolysis bullosa dystrophica at Clinical Trials.gov Trial results on Epidermolysis bullosa dystrophica Clinical Trials on Epidermolysis bullosa dystrophica at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Epidermolysis bullosa dystrophica NICE Guidance on Epidermolysis bullosa dystrophica NHS PRODIGY Guidance FDA on Epidermolysis bullosa dystrophica CDC on Epidermolysis bullosa dystrophica
Books
Books on Epidermolysis bullosa dystrophica
News
Epidermolysis bullosa dystrophica in the news Be alerted to news on Epidermolysis bullosa dystrophica News trends on Epidermolysis bullosa dystrophica
Commentary
Blogs on Epidermolysis bullosa dystrophica
Definitions
Definitions of Epidermolysis bullosa dystrophica
Patient Resources / Community
Patient resources on Epidermolysis bullosa dystrophica Discussion groups on Epidermolysis bullosa dystrophica Patient Handouts on Epidermolysis bullosa dystrophica Directions to Hospitals Treating Epidermolysis bullosa dystrophica Risk calculators and risk factors for Epidermolysis bullosa dystrophica
Healthcare Provider Resources
Symptoms of Epidermolysis bullosa dystrophica Causes & Risk Factors for Epidermolysis bullosa dystrophica Diagnostic studies for Epidermolysis bullosa dystrophica Treatment of Epidermolysis bullosa dystrophica
Continuing Medical Education (CME)
CME Programs on Epidermolysis bullosa dystrophica
International
Epidermolysis bullosa dystrophica en Espanol Epidermolysis bullosa dystrophica en Francais
Business
Epidermolysis bullosa dystrophica in the Marketplace Patents on Epidermolysis bullosa dystrophica
Experimental / Informatics
List of terms related to Epidermolysis bullosa dystrophica

	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

The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.

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

Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]

Neck

Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]

Trunk

Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]

Extremities

Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[8]

Epidermolysis bullosa dystrofic dominant

Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic dominant. Adapted from Dermatology Atlas.^[8]

Epidermolysis bullosa dystrofic recessive

Extremities

Epidermolysis bullosa dystrofic recessive. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic recessive. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic recessive. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic recessive. Adapted from Dermatology Atlas.^[8]
Epidermolysis bullosa dystrofic recessive. Adapted from Dermatology Atlas.^[8]

Trunk

Epidermolysis bullosa dystrofic recessive. Adapted from Dermatology Atlas.^[8]

Epidermolysis bullosa dystrofic recessive. Adapted from Dermatology Atlas.^[8]

References

↑ ^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.
↑ ^2.0 ^2.1 ^2.2 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. |access-date= 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.
↑ ^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

ebd at NIH/UW GeneTests
Template:GPnotebook

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

[Andrews-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.

[Fitz2-2] 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.

[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. |access-date= 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.

[Dermatology_Atlas-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".

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

Epidermolysis bullosa dystrophica

Overview

Classification

Causes

Signs and symptoms

Pathophysiology

Physical Examination

Skin

Epidermolysis bullosa pruriginosa

Scalp

Neck

Trunk

Extremities

Epidermolysis bullosa dystrofic dominant

Epidermolysis bullosa dystrofic recessive

Extremities

Trunk

See also

References

External links

Navigation menu

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