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epidermolysis bullosa simplex-mottled pigmentation - rare inherited blistering skin disorder
Definition for epidermolysis bullosa simplex-mottled pigmentation
Epidermolysis Bullosa (EB) is a rare genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma.
some common symptoms
blister(s) or bump(s) on skin
increased skin pigmentation
scarred hands
scarred skin
some related diagnoses
1 - 7 of
20
diagnoses
variegate porphyria
porphyria cutanea tarda
skin cancer
dermatitis artefacta
hypogammaglobulinemia
congenital erythropoietic protoporphyria
leprosy
more
do i have 'epidermolysis bullosa simplex-mottled pigmentation'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'epidermolysis bullosa simplex-mottled pigmentation'
1 - 5 of
16
diagnostic tests
Biopsy skin
epidermolysis bullosa simplex-mottled pigmentation and Biopsy skin
DNA mutation analysis
epidermolysis bullosa simplex-mottled pigmentation and DNA mutation analysis
Electron Microscopy
epidermolysis bullosa simplex-mottled pigmentation and Electron Microscopy
Molecular Genetic Studies
epidermolysis bullosa simplex-mottled pigmentation and Molecular Genetic Studies
Amniocentesis
epidermolysis bullosa simplex-mottled pigmentation and Amniocentesis
Chorionic Villus Sampling (CVS)
epidermolysis bullosa simplex-mottled pigmentation and Chorionic Villus Sampling (CVS)
Complete Blood Count
epidermolysis bullosa simplex-mottled pigmentation and Complete Blood Count
Immunofluorescence microscopy
epidermolysis bullosa simplex-mottled pigmentation and Immunofluorescence microscopy
Iron indices
epidermolysis bullosa simplex-mottled pigmentation and Iron indices
Serum Albumin
type of protein in human plasma
epidermolysis bullosa simplex-mottled pigmentation and Serum Albumin
Punch biopsy
epidermolysis bullosa simplex-mottled pigmentation and Punch biopsy
Serum iron
epidermolysis bullosa simplex-mottled pigmentation and Serum iron
Serum transferrin saturation
epidermolysis bullosa simplex-mottled pigmentation and Serum transferrin saturation
biopsy from edge of blister
epidermolysis bullosa simplex-mottled pigmentation and biopsy from edge of blister
fetal skin biopsy
epidermolysis bullosa simplex-mottled pigmentation and fetal skin biopsy
serum total iron binding capacity (TIBC)
epidermolysis bullosa simplex-mottled pigmentation and serum total iron binding capacity (TIBC)
for more please login, login is free (click to login)
therapeutic procedures for 'epidermolysis bullosa simplex-mottled pigmentation'?
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 simplex-mottled pigmentation:
therapeutic procedure search results for 'epidermolysis bullosa simplex-mottled pigmentation'
1 - 5 of
5
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Excision
epidermolysis bullosa simplex-mottled pigmentation and Excision
Skin equivalents
epidermolysis bullosa simplex-mottled pigmentation and Skin equivalents
Endotracheal Intubation
Intubation
epidermolysis bullosa simplex-mottled pigmentation and Endotracheal Intubation
Fetoscopy
epidermolysis bullosa simplex-mottled pigmentation and Fetoscopy
surgical intervention
epidermolysis bullosa simplex-mottled pigmentation and surgical intervention
medications search results for 'epidermolysis bullosa simplex-mottled pigmentation'
rankings are computer generated. please consult your health care provider.
web search results for epidermolysis bullosa simplex-mottled pigmentation
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1 - 50
- epidermolysis bullosa simplex-mottled pigmentation
Epidermolysis bullosa - Wikipedia, the free encyclopedia
Epidermolysis bullosa simplex with mottled pigmentation. Junctional epidermolysis bullosa ... Epidermolysis bullosa simplex · Epidermolysis bullosa dystrophica ...
http://en.wikipedia.org/wiki/Epidermolysis_bullosa
en.wikipedia.org
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summary
Epidermolysis bullosa simplex - Genetics Home Reference
... of the disorder, called epidermolysis bullosa simplex with mottled pigmentation, ... Meara type is the most severe form of epidermolysis bullosa simplex. ...
http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex
ghr.nlm.nih.gov
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summary
Epidermolysis Bullosa Simplex -- GeneReviews -- NCBI Bookshelf
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP. 148040 ... Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ebs
www.ncbi.nlm.nih.gov
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summary
Epidermolysis bullosa simplex - OMIM - Genetic disorder catalog ...
... Reference condition summary on epidermolysis bullosa simplex. ... OMIM topic: Epidermolysis bullosa simplex with mottled pigmentation. Reviewed: April 2007 ...
http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex/show/OMIM
ghr.nlm.nih.gov
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summary
Epidermolysis bullosa simplex - Wikipedia, the free encyclopedia
Epidermolysis bullosa simplex (EBS) is a disorder resulting ... Epidermolysis bullosa simplex with mottled pigmentation [edit] See also. Epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Epidermolysis_bullosa_simplex
en.wikipedia.org
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summary
KRT5 - keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner ...
epidermolysis bullosa simplex - caused by mutations in the KRT5 gene ... Epidermis bullosa simplex with mottled pigmentation typically results from a ...
http://ghr.nlm.nih.gov/gene=krt5
ghr.nlm.nih.gov
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summary
Dystrophic Epidermolysis Bullosa -- GeneReviews -- NCBI Bookshelf
EB simplex. Epidermolysis bullosa simplex (EBS) is characterized by fragility ... In EBS with mottled pigmentation (EBS-MP), skin fragility is evident at birth ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ebd
www.ncbi.nlm.nih.gov
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summary
Dystrophic Epidermolysis Bullosa
In EBS with mottled pigmentation (EBS-MP), skin fragility is evident at birth and ... epidermolysis bullosa simplex with muscular dystrophy due to a homozygous ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Epidermolysis Bullosa with Pyloric Atresia -- GeneReviews -- NCBI Bookshelf
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin ... In EBS with mottled pigmentation type (EBS-MP), skin fragility is evident at ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eb-pa
www.ncbi.nlm.nih.gov
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summary
Junctional Epidermolysis Bullosa -- GeneReviews -- NCBI Bookshelf
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin ... In EBS with mottled pigmentation type (EBS-MP), skin fragility is evident at ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ebj
www.ncbi.nlm.nih.gov
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summary
131960
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131960
www.ncbi.nlm.nih.gov
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summary
The P25L mutation in the KRT5 gene in a Japanese family with ...
... a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. ... Epidermolysis Bullosa Simplex/genetics* Family Health. Humans. Infant ...
http://www.ncbi.nlm.nih.gov/pubmed/15030360
www.ncbi.nlm.nih.gov
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summary
nextbio.com/b/home/generalSearch.nb?q=
Epidermolysis
+
bullosa
+
simplex
+
...
http://www.nextbio.com/b/home/generalSearch.nb?q=Epidermolys...
www.nextbio.com
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summary
nextbio.com/b/home/home.nb?q=
Epidermolysis
+
bullosa
+
simplex
+with+
mottled
+
...
http://www.nextbio.com/b/home/home.nb?q=Epidermolysis+bullos...
www.nextbio.com
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summary
Junctional Epidermolysis Bullosa
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the ... In EBS with mottled pigmentation type (EBS-MP), skin fragility is evident at birth ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
M Indelman - NextBio
... epidermolysis bullosa simplex Epidermolysis bullosa simplex with mottled pigmentation epidermolytic hyperkeratosis FGF23 GALNT3 ...
http://www.nextbio.com/b/literature/literature.nb?author=M+Indelman
www.nextbio.com
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summary
AceView: Gene:KRT5andKRT6A, a comprehensive annotation of human, mouse ...
... pigmentation; epidermolysis bullosa simplex with mottled pigmentation; ebs-mp; Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=KRT5
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for October, 2003
... EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS ... Clinical Synopsis for 131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2003
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for November, 1999
131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP ... 226730 EPIDERMOLYSIS BULLOSA LETALIS WITH PYLORIC ATRESIA. 226900 EPIPHYSEAL ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.1999
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for December, 1996
131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION. 133450 EWING SARCOMA; EWS ... 131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.1996
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for July, 1996
Clinical Synopsis for 131900 EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2 ... Synopsis for 131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.1996
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for April, 2001
131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP ... 226700 EPIDERMOLYSIS BULLOSA LETALIS. 263300 POLYCYTHEMIA VERA. 276410 TWINNING, ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2001
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for July, 2003
607600 EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE; EBDSC ... 131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.2003
www.ncbi.nlm.nih.gov
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summary
#131960
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=Epidermol...
www.ncbi.nlm.nih.gov
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summary
The genetic basis of epidermolysis bullosa simplex with mottled ...
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=search&db=pubmed&term=8799157
www.ncbi.nlm.nih.gov
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summary
Dermatopathia pigmentosa reticularis - Wikipedia, the free encyclopedia
Epidermolysis bullosa simplex · Junctional epidermolysis bullosa · Epidermolysis bullosa ... Pigmentation disorder. Incontinentia pigmenti · Urticaria ...
http://en.wikipedia.org/wiki/Dermatopathia_pigmentosa_reticularis
en.wikipedia.org
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summary
List of skin-related conditions - Wikipedia, the free encyclopedia
Epidermolysis bullosa simplex with mottled pigmentation ... Localized epidermolysis bullosa simplex (Weber-Cockayne) Mandibuloacral dysplasia ...
http://en.wikipedia.org/wiki/List_of_skin_diseases
en.wikipedia.org
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User:AlexNewArtBot/HorticultureLog - Wikipedia, the free encyclopedia
Article Epidermolysis bullosa simplex with mottled pigmentation matched rule disease 6 points ... Epidermolysis bullosa simplex with mottled pigmentation ...
http://en.wikipedia.org/wiki/User:AlexNewArtBot/HorticultureLog
en.wikipedia.org
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summary
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