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epidermolysis bullosa dystrophica - chronic skin disease with severe scarring
Definition for epidermolysis bullosa dystrophica
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.
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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.
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some common symptoms
blister(s) or bump(s) on skin
fatigue
scarred skin
weight loss
some related diagnoses
1 - 7 of
20
diagnoses
variegate porphyria
skin cancer
porphyria cutanea tarda
hypogammaglobulinemia
dermatitis artefacta
hereditary coproporphyria
congenital erythropoietic protoporphyria
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do i have 'epidermolysis bullosa dystrophica'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'epidermolysis bullosa dystrophica'
1 - 5 of
21
diagnostic tests
Biopsy skin
epidermolysis bullosa dystrophica and Biopsy skin
DNA mutation analysis
epidermolysis bullosa dystrophica and DNA mutation analysis
Electron Microscopy
epidermolysis bullosa dystrophica and Electron Microscopy
Immunofluorescence microscopy
epidermolysis bullosa dystrophica and Immunofluorescence microscopy
Molecular Genetic Studies
epidermolysis bullosa dystrophica and Molecular Genetic Studies
Complete Blood Count
epidermolysis bullosa dystrophica and Complete Blood Count
Endoscopy, Upper Gastrointestinal
Endoscopy
epidermolysis bullosa dystrophica and Endoscopy, Upper Gastrointestinal
Upper GI Series
Xray examination of upper digestive tract after drinking barium
epidermolysis bullosa dystrophica and Upper GI Series
Amniocentesis
epidermolysis bullosa dystrophica and Amniocentesis
Chorionic Villus Sampling (CVS)
epidermolysis bullosa dystrophica and Chorionic Villus Sampling (CVS)
Iron indices
epidermolysis bullosa dystrophica and Iron indices
Serum Albumin
type of protein in human plasma
epidermolysis bullosa dystrophica and Serum Albumin
Comprehensive eye exam
epidermolysis bullosa dystrophica and Comprehensive eye exam
Endoscopy
epidermolysis bullosa dystrophica and Endoscopy
Gastroscopy
epidermolysis bullosa dystrophica and Gastroscopy
Punch biopsy
epidermolysis bullosa dystrophica and Punch biopsy
Serum iron
epidermolysis bullosa dystrophica and Serum iron
Serum transferrin saturation
epidermolysis bullosa dystrophica and Serum transferrin saturation
biopsy from edge of blister
epidermolysis bullosa dystrophica and biopsy from edge of blister
fetal skin biopsy
epidermolysis bullosa dystrophica and fetal skin biopsy
serum total iron binding capacity (TIBC)
epidermolysis bullosa dystrophica and serum total iron binding capacity (TIBC)
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therapeutic procedures for 'epidermolysis bullosa dystrophica'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for epidermolysis bullosa dystrophica:
therapeutic procedure search results for 'epidermolysis bullosa dystrophica'
1 - 5 of
9
therapeutic procedures
rankings are computer generated. please consult your health care provider.
dental care
epidermolysis bullosa dystrophica and dental care
Excision
epidermolysis bullosa dystrophica and Excision
Skin equivalents
epidermolysis bullosa dystrophica and Skin equivalents
Esophageal dilatation
epidermolysis bullosa dystrophica and Esophageal dilatation
Endotracheal Intubation
Intubation
epidermolysis bullosa dystrophica and Endotracheal Intubation
Gastroscopy
epidermolysis bullosa dystrophica and Gastroscopy
Endoscopy
epidermolysis bullosa dystrophica and Endoscopy
Fetoscopy
epidermolysis bullosa dystrophica and Fetoscopy
surgical intervention
epidermolysis bullosa dystrophica and surgical intervention
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medications search results for 'epidermolysis bullosa dystrophica'
rankings are computer generated. please consult your health care provider.
web search results for epidermolysis bullosa dystrophica
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1 - 50
- epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica - Wikipedia, the free encyclopedia
Epidermolysis bullosa dystrophica. Classification and external resources ... Epidermolysis bullosa dystrophica or Dystrophic EB (DEB) is an inherited disease ...
http://en.wikipedia.org/wiki/Epidermolysis_bullosa_dystrophica
en.wikipedia.org
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Epidermolysis bullosa dystrophica of the larynx and trachea. Acute ...
Epidermolysis bullosa dystrophica of the larynx and trachea. Acute airway obstruction. ... Epidermolysis bullosa dystrophica (EBD) is a rare inherited skin disease ...
http://www.ncbi.nlm.nih.gov/pubmed/7436245
www.ncbi.nlm.nih.gov
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Dystrophic epidermolysis bullosa - OMIM - Genetic disorder catalog ...
... Genetics Home Reference condition summary on dystrophic epidermolysis bullosa. ... bullosa dystrophica, AD. OMIM topic: Epidermolysis bullosa dystrophica, ...
http://ghr.nlm.nih.gov/condition=dystrophicepidermolysisbullosa/show/OMIM
ghr.nlm.nih.gov
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summary
Dystrophic Epidermolysis Bullosa -- GeneReviews -- NCBI Bookshelf
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE. 132000 ... EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA. 226600. EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ebd
www.ncbi.nlm.nih.gov
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Epidermolysis bullosa - Wikipedia, the free encyclopedia
Epidermolysis Bullosa (EB) is a rare disorder caused by a ... epidermolysis bullosa dystrophica, autosomal recessive; RDEB. 11q22-q23, 3p21.3. COL7A1, MMP1 ...
http://en.wikipedia.org/wiki/Epidermolysis_bullosa
en.wikipedia.org
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Dystrophic epidermolysis bullosa - Genetics Home Reference
Epidermolysis bullosa is a group of genetic conditions that cause the ... Epidermolysis Bullosa Dystrophica. See How are genetic conditions and genes named? ...
http://ghr.nlm.nih.gov/condition=dystrophicepidermolysisbullosa
ghr.nlm.nih.gov
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summary
Junctional epidermolysis bullosa (medicine) - Wikipedia, the free ...
Junctional epidermolysis bullosa is a skin condition characterized by blister ... COL7: Epidermolysis bullosa dystrophica. COL9: Multiple epiphyseal dysplasia ...
http://en.wikipedia.org/wiki/Junctional_epidermolysis_bullosa_(medicine)
en.wikipedia.org
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summary
Epidermolysis bullosa simplex - Wikipedia, the free encyclopedia
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in ... COL7: Epidermolysis bullosa dystrophica. COL9: Multiple epiphyseal dysplasia ...
http://en.wikipedia.org/wiki/Epidermolysis_bullosa_simplex
en.wikipedia.org
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Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and ...
Pretibial epidermolysis bullosa (PEB) is a rare variant of ... Epidermolysis Bullosa Dystrophica/genetics* Female. Glycine/genetics* Humans. Linkage (Genetics) ...
http://www.ncbi.nlm.nih.gov/pubmed/8541842
www.ncbi.nlm.nih.gov
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2009 MeSH Tree Structures. C17 - Skin and Connective Tissue Diseases
Epidermolysis Bullosa Dystrophica [C17.800.804.493.160] ... Epidermolysis Bullosa Dystrophica [C17.800.827.275.160] ... Epidermolysis Bullosa Dystrophica [C17. ...
http://www.nlm.nih.gov/mesh/2009/mesh_trees/C17.html
www.nlm.nih.gov
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Search Results - Genetics Home Reference
Found: Epidermolysis bullosa is a group of genetic conditions... Found in name or synonym: Epidermolysis Bullosa Dystrophica. Related genes: COL7A1 ...
http://ghr.nlm.nih.gov/ghr/search?query=Epidermolysis
ghr.nlm.nih.gov
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Search Results - Genetics Home Reference
Found in name or synonym: Epidermolysis Bullosa Dystrophica. Related genes: COL7A1 ... Found: Epidermolysis bullosa is a group of genetic conditions that cause...
http://ghr.nlm.nih.gov/search?query="Epidermolysis+Bullosa"
ghr.nlm.nih.gov
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Identification of a de novo glycine substitution in the type VII ...
... forms of epidermolysis bullosa result from different ... Epidermolysis Bullosa Dystrophica/genetics* Epidermolysis Bullosa Dystrophica/physiopathology ...
http://www.ncbi.nlm.nih.gov/pubmed/10232407
www.ncbi.nlm.nih.gov
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Ichthyosis bullosa of Siemens - Wikipedia, the free encyclopedia
COL7: Epidermolysis bullosa dystrophica. COL9: Multiple epiphyseal dysplasia ... Osteopoikilosis · Pelger-Huet anomaly · Junctional epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Ichthyosis_bullosa_of_Siemens
en.wikipedia.org
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Kindler surprise: mutations in a novel actin-associated protein cause ...
Epidermolysis Bullosa Dystrophica/genetics* Epidermolysis Bullosa ... Epidermolysis Bullosa Dystrophica/pathology. Extracellular Matrix Proteins/chemistry ...
http://www.ncbi.nlm.nih.gov/pubmed/15927810
www.ncbi.nlm.nih.gov
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Clinical and molecular dilemmas in the diagnosis of familial ...
Dystrophic epidermolysis bullosa is a rare and clinically ... Epidermolysis Bullosa Dystrophica/diagnosis* Epidermolysis Bullosa Dystrophica/genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/17434045
www.ncbi.nlm.nih.gov
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AceView: Gene:COL7A1andUCN2andPFKFB4, a comprehensive annotation of ...
AceView offers a comprehensive annotation of human, mouse and nematode genes ... epidermolysis bullosa dystrophica, pasini type; Epidermolysis bullosa ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=PFKFB4
www.ncbi.nlm.nih.gov
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Orphanet: Epidermolysis bullosa, dystrophic
The portal for rare diseases and orphan drugs ... Dystrophic forms: Epidermolysis Bullosa Dystrophica Hallopeau-Siemens type is ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=303
www.orpha.net
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PMID: 10517464
379-85 Recessive dystrophic epidermolysis bullosa is an inherited mechanobullous ... Epidermis cytology Epidermolysis Bullosa Dystrophica complications metabolism ...
http://www.ncbi.nlm.nih.gov/pubmed/10517464
www.ncbi.nlm.nih.gov
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Novel KIND1 gene mutation in Kindler syndrome with severe ...
Epidermolysis Bullosa Dystrophica/complications. Epidermolysis ... Epidermolysis Bullosa Dystrophica/pathology. Female. Genetic Predisposition to Disease ...
http://www.ncbi.nlm.nih.gov/pubmed/17178989
www.ncbi.nlm.nih.gov
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PMID 18558993
Dominant dystrophic epidermolysis bullosa usually involves glycine substitutions ... Epidermolysis Bullosa Dystrophica genetics metabolism pathology therapy Exons ...
http://www.ncbi.nlm.nih.gov/pubmed/18558993
www.ncbi.nlm.nih.gov
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MIM Gene map
Epidermolysis bullosa dystrophica, AD, 131750 (3); Epidermolysisbullosa dystrophica, AR, 226600 (3) ... (3); Epidermolysis bullosa pruriginosa, 604129 (3) ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l212138
www.ncbi.nlm.nih.gov
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PMID 1567409
Molecular cloning and characterization of type VII collagen cDNA. ... in epidermolysis bullosa acquisita and epidermolysis bullosa dystrophica. ...
http://www.ncbi.nlm.nih.gov/pubmed/1567409
www.ncbi.nlm.nih.gov
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Potential of fibroblast cell therapy for recessive dystrophic ...
Recessive dystrophic epidermolysis bullosa (RDEB) is a ... Epidermolysis Bullosa Dystrophica/therapy* Female. Fibroblasts/cytology. Fibroblasts/metabolism ...
http://www.ncbi.nlm.nih.gov/pubmed/18385758?dopt=Abstract
www.ncbi.nlm.nih.gov
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A missense mutation in type VII collagen in two affected siblings with ...
Recessive dystrophic epidermolysis bullosa is a severe mutilating ... Epidermolysis Bullosa Dystrophica/genetics* Female. Genes, Recessive. Homozygote. Humans ...
http://www.ncbi.nlm.nih.gov/pubmed/8513326
www.ncbi.nlm.nih.gov
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131750
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131750
www.ncbi.nlm.nih.gov
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226600
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226600
www.ncbi.nlm.nih.gov
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PMID: 10328187
... allograft in recessive dystrophic epidermolysis bullosa involving the hands. ... Dystrophica genetics surgery Genes, Recessive Hand Dermatoses genetics surgery ...
http://www.ncbi.nlm.nih.gov/pubmed/10328187
www.ncbi.nlm.nih.gov
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Proteinases of the bone morphogenetic protein-1 family convert ...
... with dystrophic epidermolysis bullosa and eliminates the ... Epidermolysis Bullosa Dystrophica/genetics. Epidermolysis Bullosa Dystrophica/metabolism ...
http://www.ncbi.nlm.nih.gov/pubmed/11986329
www.ncbi.nlm.nih.gov
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Review of collagen VII sequence variants found in Australasian patients ...
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is an inherited skin ... Epidermolysis Bullosa Dystrophica/pathology. Female. Genetic Variation. Genotype. Humans ...
http://www.ncbi.nlm.nih.gov/pubmed/17425959
www.ncbi.nlm.nih.gov
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2008 MeSH Tree Structures. C17 - Skin and Connective Tissue Diseases
Epidermolysis Bullosa Dystrophica. C17.300.200.367. C16.131. C16.320. C17.800. C17.800. ... Epidermolysis Bullosa Dystrophica. C17.800.804.493.160. C16.131. ...
http://www.nlm.nih.gov/mesh/trees2008/C17.pdf
www.nlm.nih.gov
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A homozygous in-frame deletion in the collagenous domain of bullous ...
... with generalized atrophic benign epidermolysis bullosa (GABEB) ... Epidermolysis Bullosa Dystrophica/etiology* Female. Gene Deletion. Genetic Heterogeneity ...
http://www.ncbi.nlm.nih.gov/pubmed/9204958
www.ncbi.nlm.nih.gov
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List of diseases (E) - Wikipedia, the free encyclopedia
Epidermolysis bullosa dystrophica, Bart type. Epidermolysis ... Epidermolysis bullosa inversa dystrophica. Epidermolysis bullosa simplex with anodontia, hair ...
http://en.wikipedia.org/wiki/List_of_diseases_(E)
en.wikipedia.org
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Anchoring fibrils - Wikipedia, the free encyclopedia
1 Epidermolysis bullosa dystrophica. 2 See also. 3 References. 4 External links ... Epidermolysis bullosa dystrophica, also known as Dystrophic EB (DEB) is a ...
http://en.wikipedia.org/wiki/Anchoring_fibrils
en.wikipedia.org
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A glycine-to-arginine substitution in the triple-helical domain of type ...
Epidermolysis bullosa pruriginosa is a recently recognized ... Epidermolysis Bullosa Dystrophica/metabolism* Exons. Female. Gene Amplification. Genes, Dominant ...
http://www.ncbi.nlm.nih.gov/pubmed/9182828
www.ncbi.nlm.nih.gov
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Dental treatment in a patient with epidermolysis bullosa.
Epidermolysis bullosa (EB) is a rare inherited group of genodermatoses ... Epidermolysis Bullosa Dystrophica/complications* Fatal Outcome. Forearm. Genes, Recessive ...
http://www.ncbi.nlm.nih.gov/pubmed/18489655
www.ncbi.nlm.nih.gov
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PMID 8088784
... locus for mutations in at least some cases of dystrophic epidermolysis bullosa. ... Collagen genetics Epidermolysis Bullosa Dystrophica genetics Exons Genes ...
http://www.ncbi.nlm.nih.gov/pubmed/8088784
www.ncbi.nlm.nih.gov
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Deb - Wikipedia, the free encyclopedia
deb (file format), a software package format used by the ... The second album by Souad Massi. DEB, the abbreviation for Epidermolysis bullosa dystrophica ...
http://en.wikipedia.org/wiki/Deb
en.wikipedia.org
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Genodermatosis - Wikipedia, the free encyclopedia
Genodermatoses are inherited genetic skin conditions often grouped into three ... bullosa. Epidermolysis bullosa simplex · Junctional epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Genodermatosis
en.wikipedia.org
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The carboxyl-terminal half of type VII collagen, including the non ...
... inherited forms of dystrophic epidermolysis bullosa. ... Epidermolysis Bullosa Dystrophica/genetics. Exons. Humans. Introns. Molecular Sequence Data ...
http://www.ncbi.nlm.nih.gov/pubmed/8499916
www.ncbi.nlm.nih.gov
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Dyschromatosis universalis hereditaria - Wikipedia, the free encyclopedia
Dyschromatosis universalis hereditaria: Two cases, Dermatology Online Journal. ... bullosa. Epidermolysis bullosa simplex · Junctional epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria
en.wikipedia.org
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PMID 9804354
... atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1. ... Bullosa Dystrophica genetics Epitopes analysis Female ...
http://www.ncbi.nlm.nih.gov/pubmed/9804354
www.ncbi.nlm.nih.gov
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Lelis syndrome - Wikipedia, the free encyclopedia
Lelis syndrome it is a genetic disorder, a rare condition with dermatological ... bullosa. Epidermolysis bullosa simplex · Junctional epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Lelis_syndrome
en.wikipedia.org
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Meleda disease - Wikipedia, the free encyclopedia
This article needs additional citations for verification. ... Epidermolysis bullosa. Epidermolysis bullosa simplex · Junctional epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Meleda_disease
en.wikipedia.org
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PMID 16971478
Epidermolysis bullosa. ... Dystrophic Epidermolysis Bullosa Research ... Epidermolysis Bullosa genetics Epidermolysis Bullosa Dystrophica classification ...
http://www.ncbi.nlm.nih.gov/pubmed/16971478
www.ncbi.nlm.nih.gov
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15949003 2005 06 13 2005 08 04 0007-0963 152 6 2005 Jun Br. J. Dermatol ...
Thalidomide in the management of epidermolysis bullosa pruriginosa. ... IM Adolescent Epidermolysis Bullosa Dystrophica drug therapy genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/15949003
www.ncbi.nlm.nih.gov
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Osteogenesis imperfecta - Wikipedia, the free encyclopedia
COL7: Epidermolysis bullosa dystrophica. COL9: Multiple epiphyseal dysplasia ... hyperkeratosis · Epidermolysis bullosa simplex · Ichthyosis bullosa of Siemens ...
http://en.wikipedia.org/wiki/Osteogenesis_imperfecta
en.wikipedia.org
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Becker's nevus - Wikipedia, the free encyclopedia
nevi or naevi) is a skin disorder predominantly affecting males. ... Epidermolysis bullosa. Epidermolysis bullosa simplex · Junctional epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Becker's_nevus
en.wikipedia.org
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Dermatopathia pigmentosa reticularis - Wikipedia, the free encyclopedia
Dermatopathia pigmentosa reticularis (also known as "Dermatopathia pigmentosa ... bullosa. Epidermolysis bullosa simplex · Junctional epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Dermatopathia_pigmentosa_reticularis
en.wikipedia.org
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Netherton syndrome - Wikipedia, the free encyclopedia
As a result they may well be kept in hospital for a few weeks or even months. ... bullosa. Epidermolysis bullosa simplex · Junctional epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Netherton_syndrome
en.wikipedia.org
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