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Pediatric Epidermolysis Bullosa Workup

  • Author: Surasak Puvabanditsin, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Oct 15, 2015
 

Laboratory Studies

Transmission electron microscopy

Electron microscopy determines the level of skin cleavage in epidermolysis bullosa (EB) and permits visualization and semiquantitative assessment of specific structures, which are known to be altered in selected epidermolysis bullosa subtypes. See the image below.

Electron micrograph of a skin sample shows cleavag Electron micrograph of a skin sample shows cleavage in the intralaminar lucida in a neonate with junctional epidermolysis bullosa (JEB).

Very few highly proficient electron microscopy laboratories are now available worldwide.

Immunofluorescence mapping (IFM)

IFM is as diagnostically reliable as transmission electron microscopy for several type of epidermolysis bullosa. IFM, when coupled with the use of specific monoclonal antibodies, can provide considerable insight into not only the major type of epidermolysis bullosa but also into the structural protein most likely mutated.

Mutation analysis

Mutation analysis is the ultimate means of determining the mode of inheritance and the precise site and type of molecular mutation. It is the recommended technique; prenatal and preimplantation diagnosis can be performed. It is very labor intensive and expensive to perform, currently only a few research or commercial laboratories are equipped to perform this analysis.

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Imaging Studies

Radiography may indirectly help in diagnosis of certain types of epidermolysis bullosa with associated abnormalities, such as pyloric atresia (PA) or genitourinary obstruction. See the images below.

Contrast-enhanced radiograph of the abdomen sugges Contrast-enhanced radiograph of the abdomen suggestive of pyloric atresia (PA) in a patient with junctional epidermolysis bullosa (JEB). The association between PA and EB is a distinct entity and is now referred to as PA-EB syndrome.
Abdominal radiography revealing a single gastric b Abdominal radiography revealing a single gastric bubble in a neonate with pyloric atresia (PA) and junctional epidermolysis bullosa (JEB).
Severe right hydronephrosis in a neonate with junc Severe right hydronephrosis in a neonate with junctional epidermolysis bullosa (JEB).
Genitourinary obstruction in a fetus with junction Genitourinary obstruction in a fetus with junctional epidermolysis bullosa (JEB). Prenatal ultrasonography reveals severe right hydronephrosis.
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Histologic Findings

Electron microscopy in the 1970s revealed abnormal epidermal keratin filaments in epidermolysis bullosa simplex (EBS), disordered dermal anchoring fibrils in dystrophic epidermolysis bullosa, and defective hemidesmosomes in junctional epidermolysis bullosa. Epidermolysis bullosa has approximately 30 different subtypes.

For other microscopic features, see Causes in Presentation.

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Contributor Information and Disclosures
Author

Surasak Puvabanditsin, MD Assistant Professor of Pediatrics, Rutgers Robert Wood Johnson Medical School, Rutgers New Jersey Medical School; Associate Professor of Pediatrics, St George's University School of Medicine; Associate Professor of Pediatrics, Seton Hall University School of Graduate Medical Education

Surasak Puvabanditsin, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Coauthor(s)

Rajeev Mehta, MD, FRCP Professor, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School; Associate Director of Neonatology and Co-Director of Applied Research (Pediatric), Bristol-Myers Squibb Children's Hospital

Rajeev Mehta, MD, FRCP is a member of the following medical societies: Eastern Society for Pediatric Research, Royal College of Physicians of Ireland, Royal College of Physicians and Surgeons of the United Kingdom

Disclosure: Nothing to disclose.

Jennifer Ai McConnell, MD Resident Physician, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School

Jennifer Ai McConnell, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Natalie Kay Gengel, DO Resident Physician, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School

Natalie Kay Gengel, DO is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Julia Mayne, MD Resident Physician, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Kevin P Connelly, DO Clinical Assistant Professor, Department of Pediatrics, Division of General Pediatrics and Emergency Care, Virginia Commonwealth University School of Medicine; Medical Director, Paws for Health Pet Visitation Program of the Richmond SPCA; Pediatric Emergency Physician, Emergency Consultants Inc, Chippenham Medical Center

Kevin P Connelly, DO is a member of the following medical societies: American Academy of Pediatrics, American College of Osteopathic Pediatricians, American Osteopathic Association

Disclosure: Nothing to disclose.

Alexis A D'Elia, MD Cardiovascular Disease Fellow, Winthrop University Hospital; Assistant Clinical Instructor, State University of New York at Stony Brook School of Medicine

Alexis A D'Elia, MD is a member of the following medical societies: American College of Physicians

Disclosure: Nothing to disclose.

Rungtiwa Weerasethsiri, MD General Pediatrician, Merced Facuty Associates, California

Rungtiwa Weerasethsiri, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Nisha Patel, MD Resident Physician, Westchester Medical Center, Maria Ferrari Children's Hospital

Nisha Patel, MD is a member of the following medical societies: American Medical Student Association/Foundation, Phi Beta Kappa

Disclosure: Nothing to disclose.

Erik Brandsma, MD Fellow, Department of Neonatology, University of Medicine and Dentistry of New Jersey

Disclosure: Nothing to disclose.

Acknowledgements

The authors thank Judy Wilkinson, librarian at the Jersey City Medical Center, for her assistance. The authors also thank Sylvia Sutton-Thorpe, Chrystal Puvabandistin, and Christina Puvabanditsin for supporting this effort and preparing the manuscript.

The authors and editors of Medscape Drugs & Diseases gratefully acknowledge the contributions of previous coauthor Eugene Garrow, MD, to the original writing and development of this article.

References
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  4. Heagerty AH, Kennedy AR, Leigh IM, Purkis P, Eady RA. Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis. Br J Dermatol. 1986 Aug. 115(2):125-31. [Medline].

  5. McGrath JA, McMillan JR, Dunnill MG, et al. Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family. Prenat Diagn. 1995 Jul. 15(7):647-54. [Medline].

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  13. Pavicic Z, Kmet-Vizintin P, Kansky A, Dobric I. Occurrence of hereditary bullous epidermolyses in Croatia. Pediatr Dermatol. 1990 Jun. 7(2):108-10. [Medline].

  14. Fine JD. Epidermolysis bullosa: a genetic disease of altered cell adhesion and wound healing, and the possible clinical utility of topically applied thymosin beta4. Ann N Y Acad Sci. 2007 Sep. 1112:396-406. [Medline].

  15. Fischer IA, Kazandjieva J, Vassileva S, Dourmishev A. Kindler syndrome: a case report and proposal for clinical diagnostic criteria. Acta Dermatovenerol Alp Panonica Adriat. 2005 Jun. 14(2):61-7. [Medline].

  16. Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014 Jun. 70 (6):1103-26. [Medline].

  17. Liu L, Mellerio JE, Martinez AE, McMillan JR, Aristodemou S, Parsons M, et al. Mutations in EXPH5 result in autosomal recessive inherited skin fragility. Br J Dermatol. 2014 Jan. 170 (1):196-9. [Medline].

  18. Pigors M, Schwieger-Briel A, Leppert J, Kiritsi D, Kohlhase J, Bruckner-Tuderman L, et al. Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations. J Invest Dermatol. 2014 Mar. 134 (3):842-5. [Medline].

  19. McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, et al. Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. Am J Hum Genet. 2012 Dec 7. 91 (6):1115-21. [Medline].

  20. Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008 Jun. 58(6):931-50. [Medline].

  21. Sawamura D, Nakano H, Matsuzaki Y. Overview of epidermolysis bullosa. J Dermatol. 2010 Mar. 37(3):214-9. [Medline].

  22. El Hachem M, Zambruno G, Bourdon-Lanoy E, Ciasulli A, Buisson C, Hadj-Rabia S, et al. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis. 2014 May 20. 9:76. [Medline].

  23. Rubin AI, Garzon MC, Morel KD. Herpetic infection in epidermolysis bullosa. Pediatr Dermatol. 2006 Jul-Aug. 23(4):355-7. [Medline].

  24. Fine JD, Johnson LB, Weiner M, Suchindran C. Gastrointestinal complications of inherited epidermolysis bullosa: cumulative experience of the National Epidermolysis Bullosa Registry. J Pediatr Gastroenterol Nutr. 2008 Feb. 46(2):147-58. [Medline].

  25. Shaw DW, Fine JD, Piacquadio DJ, et al. Gastric outlet obstruction and epidermolysis bullosa. J Am Acad Dermatol. 1997 Feb. 36(2 Pt 2):304-10. [Medline].

  26. Puvabanditsin S, Garrow E, Kim DU, Tirakitsoontorn P, Luan J. Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings. J Am Acad Dermatol. 2001 Feb. 44(2 Suppl):330-5. [Medline].

  27. Fine JD, Johnson LB, Weiner M, et al. Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermylosis bullosa registry and review of the literature. J Urol. 2004 Nov. 172(5 Pt 1):2040-4. [Medline].

  28. Rubin AI, Moran K, Fine JD, Wargon O, Murrell DF. Urethral meatal stenosis in junctional epidermolysis bullosa: a rare complication effectively treated with a novel and simple modality. Int J Dermatol. 2007 Oct. 46(10):1076-7. [Medline].

  29. Fine JD, Johnson LB, Weiner M, et al. Eye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry. Am J Ophthalmol. 2004 Aug. 138(2):254-62. [Medline].

  30. Fine JD, Johnson LB, Weiner M, Suchindran C. Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry. Laryngoscope. 2007 Sep. 117(9):1652-60. [Medline].

  31. Fine JD, Johnson LB, Weiner M, Li KP, Suchindran C. Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. J Am Acad Dermatol. 2009 Feb. 60(2):203-11. [Medline].

  32. Fine JD, Johnson LB, Weiner M, et al. Inherited epidermolysis bullosa and the risk of death from renal disease: experience of the National Epidermolysis Bullosa Registry. Am J Kidney Dis. 2004 Oct. 44(4):651-60. [Medline].

  33. Fine JD, Johnson LB, Weiner M, Suchindran C. Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr. 2008 Feb. 152(2):276-80. [Medline].

 
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Ruptured bulla and newly erupted bulla of the leg in a newborn with epidermolysis bullosa simplex (EBS).
Dystrophic epidermolysis bullosa (DEB) with multiple blisters and erosions.
Dystrophic epidermolysis bullosa (DEB) with generalized blistering and erosion.
Dystrophic epidermolysis bullosa (DEB) that subsequently healed, with scarring.
Junctional epidermolysis bullosa (JEB). Image shows a newborn with bulla of the finger, the usual site of blistering secondary to trauma.
Junctional epidermolysis bullosa (JEB) with an associated defect of a congenital absence of the skin.
Junctional epidermolysis bullosa (JEB) with an associated defect of a congenital absence of the skin and an ear anomaly.
Contrast-enhanced radiograph of the abdomen suggestive of pyloric atresia (PA) in a patient with junctional epidermolysis bullosa (JEB). The association between PA and EB is a distinct entity and is now referred to as PA-EB syndrome.
Electron micrograph of a skin sample shows cleavage in the intralaminar lucida in a neonate with junctional epidermolysis bullosa (JEB).
Dystrophic nails in a neonate with junctional epidermolysis bullosa (EB).
Congenital localized absence of skin, nose, in a neonate with junctional epidermolysis bullosa (JEB).
Ruptured bullae on the abdomen in a neonate with junctional epidermolysis bullosa (JEB).
A large bullae on the elbow in a neonate with junctional epidermolysis bullosa (JEB).
Congenital localized absence of skin on the scrotum in a neonate with junctional epidermolysis bullosa (JEB). Absence of the foreskin was also noted.
Severe right hydronephrosis in a neonate with junctional epidermolysis bullosa (JEB).
Genitourinary obstruction in a fetus with junctional epidermolysis bullosa (JEB). Prenatal ultrasonography reveals severe right hydronephrosis.
Ruptured bulla of the hand in a newborn with epidermolysis bullosa simplex (EBS).
Abdominal radiography revealing a single gastric bubble in a neonate with pyloric atresia (PA) and junctional epidermolysis bullosa (JEB).
Table 1. Morphologic and molecular features of Major Types and Subtypes of Epidermolysis Bullosa
Type or Subtype Level of Blister Formation Protein Affected and Immunofluorescence Staining Pattern
Epidermolysis bullosa simplex
Suprabasal Suprabasal epidermis Transglutaminase 5: Normal, reduced, or absent
    Desmoplakin: Reduced or absent
     Plakoglobin: Reduced or absent
    Plakophilin 1: Reduced or absent
  Basal epidermis Keratin 5 or keratin 14: Usually normal
    Exophilin 5: Absent
    Plectin: Reduced or absent
    Bullous pemphigoid antigen-1: Absent
Junctional epidermolysis bullosa
JEB, generalized severe Intralamina lucida Laminin-332: Absent or markedly reduced
JEB, generalized intermediate Intralamina lucida Laminin-332: Reduced
JEB with pyloric atresia Intralamina lucida Type XVII collagen: Reduced or absent
  Intralamina lucida α6β4 integrin: Absent or markedly reduced
JEB, late onset Intralamina lucida Type XVII collagen: Reduced or abnormal pattern
JEB with respiratory and



renal involvement



Intralamina lucida α6β4 integrin: Absent or normal
JEB, localized Intralamina lucida Type XVII collagen: Reduced or absent
    α6β4 integrin: Reduced
    Laminin-332: Reduced
JEB-inversa Intralamina lucida Laminin-332: Reduced
JEB-LOC syndrome



(LOC, laryngo-onycho-cutaneous)



No blistering Laminin-332: Normal
Dominant dystrophic epidermolysis bullosa
All subtypes Sublamina densa (dermal) Type XVII collagen: normal or reduced 
Bullous dermolysis of the newborn Sublamina densa (dermal) Type XVII collagen: Granular staining within basal keatinocytes; reduced/absent staining along dermoepidermal junction during active disease; normal staining along dermoepidermal junction during inactive disease
Recessive dystrophic epidermolysis bullosa
Bullous dermolysis of the newborn Sublamina densa (dermal) Type XVII collagen: Granular staining within basal keatinocytes; reduced/absent staining along dermoepidermal junction during active disease; normal staining along dermoepidermal junction during inactive disease
Generalized  severe  Sublamina densa (dermal) Type XVII collagen: Absent or markedly reduced 
Generalized intermediate Sublamina densa (dermal) Type XVII collagen: Reduced 
Localized Sublamina densa (dermal) Type XVII collagen: Normal or reduced or normal
All other subtypes Sublamina densa (dermal) Type XVII collagen: Reduced 
Table 2. Major Epidermolysis Bullosa Types and Subtypes
Level of Skin Cleavage Major Type Known Targeted Protein
Intraepidermal  Suprabasal epidermolysis bullosa simplex Transglutaminase 5; plakophillin 1 desmoplakin; plakoglobin
  Basal epidermolysis bullosa simplex Keratins 5 and 14; plectin; exophilin 5(Slac2-b); bullous pemphigoid antigen1
Intralamina lucida Junctional epidermolysis bullosa, generalized Laminin-332; type XVII collagen; α6β4 integrin; α3 integrin
  Junctional epidermolysis bullosa, localized Type XVII collagen; laminin-332;  α6β4 integrin
Sublamina densa  Dominant dystrophic epidermolysis bullosa Type VII collagen
  Recessive dystrophic epidermolysis bullosa Type VII collagen
Mixed Kindler syndrome Kindlin-1
Table 3. Mutational Analyses and Inherited Epidermolysis Bullosa [17, 18, 19]
Epidermolysis Bullosa Subtype Target Gene (Protein) Types of Known Mutations
Epidermolysis bullosa simplex - Suprabasal PKP1 (plakophilin1) Splice site, nonsense, deletion, deletion/insertion, insertion
  DSP (desmoplakin) Nonsense, deletion, missense
  TGMS Missense, deletion, deletion/insertion
  JUP Nonsense, splice site
Epidermolysis bullosa simplex - Basal KRT5 (keratin-5) Missense, deletion, splice site,  nonsense, deletion/insertion
  KRT14 (keratin-14) Missense,  deletion, nonsense, splice site, deletion/insertion, insertion
  PLEC (plectin)  Nonsense, deletion, insertion, deletion/insertion, splice site, missense,
  EXPH5 Deletion, nonsense, insertion
  DST Nonsense
Junctional epidermolysis bullosa - Generalized LAMA3 Nonsense, deletion, splice site
  LAMB3 Nonsense, deletion, splice site, insertion,
  LAMC2  Nonsense, deletion, splice site, deletion/insertion
Junctional epidermolysis bullosa,  generalized/localized LAMA3  Missense, nonsense, insertion, splice site
  LAMB3 Missense, nonsense, splice site, deletion, insertion, deletion/insertion
  LAMC2  Nonsense, deletion, deletion/insertion, insertion, splice site
  COL17A1 (type XVII collagen) Nonsense, deletion, splice site, insertion, missense
  ITGB4 (α6β4 integrin) Deletion, splice site, missense
Junctional epidermolysis bullosa, late onset  COL17A1 (type XVII collagen) Missense
Junctional epidermolysis bullosa with pyloric atresia ITGB4 (α6β4 integrin)



 



Nonsense, missense, deletion, splice site, insertion deletion/insertion
  ITGA6 Deletion, missense, nonsense, splice site
Junctional epidermolysis bullosa with pyloric atresia ITGA3 Missense, deletion, splice site
Junctional epidermolysis bullosa with respiratory and renal involvement LAMA3A Insertion, nonsense
Dystrophic epidermolysis bullosa, severe generalized COL17A1 (type VII collagen) Nonsense, deletion,  splice site, insertion, deletion/insertion, missense,
Dystrophic epidermolysis bullosa, generalized and localized COL17A1 (type VII collagen) Missense, nonsense, deletion, insertion, splice site, deletion/insertion
Dystrophic epidermolysis bullosa (all subtypes) COL17A1 (type VII collagen) Missense, splice site, deletion
Kindler syndrome KIND1 (kindling-1) Nonsense, deletion, splice site, insertion, deletion/insertion
Table 4. Major EB Subtypes and Their Targeted Proteins (2008 International Consensus Report [20] )
Major EB Type Major EB Subtypes Targeted Protein(s)
EB simplex (EBS) Suprabasal subtypes  
  Acantholytic EBS (EBS-acanth) Desmoplakin, plakoglobin
  Acral peeling skin syndrome (APSS) Transglutaminase 5
  EBS superficialis (EBSS) Unknown
  Plakophilin-1 deficiency Plakophilin-1
  Plakoglobin deficiency (EBS-plakoglobin) Plakoglobin
  Desmoplakin deficiency (EBS-desmoplakin) Desmoplakin
  Basal subtypes  
  EBS, localized (EBS-loc) K5, K14
  EBS, generalized severe (EBS-gen sev) K5, K14
  EBS, generalized intermediate (EBS-gen intermed) K5, K14
  EBS with mottled pigmentation (EBS-MP) K5
  EBS with migratory circinate (EBS-migr) Plectin
  EBS with pyloric atresia (EBS-PA) Plectin; α6β4 integrin
  EBS, autosomal recessive K14 (EBS-AR K14) K14
  EBS with muscular dystrophy (EBS-MD) Plectin
  EBS, Ogna (EBS-Og) Plectin
  EBS, migratory circinate (EBS-migr) K5
  EBS, autosomal recessive-BP230 deficiency



(EBS-AR BP230)



Bullous pemphigoid antigen-1 (BP230)
  EBS, autosomal recessive-exophilin 5 deficiency



(EBS-AR exophilin 5)BP230



Exophilin 5
Junctional EB (JEB) JEB, generalized severe (JEB-gen sev) laminin-332
  JEB, generalized intermediate (JEB-gen intermed) laminin-332; type XVII collagen
  JEB late onset (JEB-LO) type XVII collagen
  JEB with pyloric atresia (JEB-PA) α6β4 integrin
  JEB, with respiratory and renal involvement (JEB-RR) α3 integrin
  JEB localized (JEB-loc) type VII collagen, α6β4 integrin, 



laminin-332



  JEB, inversa (JEB-inv; JEB-I) laminin-332
  JEB-LOC syndrome laminin-332, isoform α3 chain
Dominant dystrophic EB (DDEB) DDEB, generalized (DDEB-gen) type VII collagen 
  DDEB, acral (DDEB-ac) type VII collagen
  DDEB, pretibial (DDEB-Pt) type VII collagen
  DDEB, pruriginosa (DDEB-Pr) type VII collagen
  DDEB, nails only (DDEB-na) type VII collagen
  DDEB, bullous dermolysis of newborn (DDEB-BDN) type VII collagen
Recessive dystrophic EB (RDEB) RDEB, severe generalized (RDEB-sev gen) type VII collagen
  RDEB, generalized other (RDEB, generalized mitis (RDEB-O) type VII collagen
  RDEB, inversa (RDEB-I) type VII collagen
  RDEB, pretibial (RDEB-Pt) type VII collagen
  RDEB, pruriginosa (RDEB-Pr) type VII collagen
  RDEB, centripetalis (RDEB-Ce) type VII collagen
  RDEB, bullous dermolysis of newborn (RDEB-BDN) type VII collagen
Kindler syndrome   kindlin-1
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