Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Pediatric Epidermolysis Bullosa Medication

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

Medication Summary

Drug therapy is not currently a component in the standard of care for epidermolysis bullosa (EB). See Treatment.

 
 
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
  1. [Guideline] 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].

  2. Pearson RW. Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol. 1962 Dec. 39:551-75. [Medline].

  3. Hintner H, Stingl G, Schuler G, et al. Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in the mechanobullous diseases. J Invest Dermatol. 1981 Feb. 76(2):113-8. [Medline].

  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].

  6. Smith LT. Ultrastructural findings in epidermolysis bullosa. Arch Dermatol. 1993 Dec. 129(12):1578-84. [Medline].

  7. Pulkkinen L, Christiano AM, Airenne T, et al. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet. 1994 Mar. 6(3):293-7. [Medline].

  8. Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010 May 28. 5:12. [Medline]. [Full Text].

  9. Pfendner E, Uitto J, Fine JD. Epidermolysis bullosa carrier frequencies in the US population. J Invest Dermatol. 2001 Mar. 116 (3):483-4. [Medline].

  10. Horn HM, Priestley GC, Eady RA, Tidman MJ. The prevalence of epidermolysis bullosa in Scotland. Br J Dermatol. 1997 Apr. 136(4):560-4. [Medline].

  11. McKenna KE, Walsh MY, Bingham EA. Epidermolysis bullosa in Northern Ireland. Br J Dermatol. 1992 Oct. 127(4):318-21. [Medline].

  12. Inaba Y, Kitamura K, Ogawa H, Manabe M, Sasai Y. [A study on the estimation of prevalence of epidermolysis bullosa in Japan]. Nihon Hifuka Gakkai Zasshi. 1989 Aug. 99(9):1021-6. [Medline].

  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].

Previous
Next
 
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 FormationProtein Affected and Immunofluorescence Staining Pattern
Epidermolysis bullosa simplex
SuprabasalSuprabasal epidermisTransglutaminase 5: Normal, reduced, or absent
  Desmoplakin: Reduced or absent
   Plakoglobin: Reduced or absent
  Plakophilin 1: Reduced or absent
 Basal epidermisKeratin 5 or keratin 14: Usually normal
  Exophilin 5: Absent
  Plectin: Reduced or absent
  Bullous pemphigoid antigen-1: Absent
Junctional epidermolysis bullosa
JEB, generalized severeIntralamina lucidaLaminin-332: Absent or markedly reduced
JEB, generalized intermediateIntralamina lucidaLaminin-332: Reduced
JEB with pyloric atresiaIntralamina lucidaType XVII collagen: Reduced or absent
 Intralamina lucidaα6β4 integrin: Absent or markedly reduced
JEB, late onsetIntralamina lucidaType XVII collagen: Reduced or abnormal pattern
JEB with respiratory and



renal involvement



Intralamina lucidaα6β4 integrin: Absent or normal
JEB, localizedIntralamina lucidaType XVII collagen: Reduced or absent
  α6β4 integrin: Reduced
  Laminin-332: Reduced
JEB-inversaIntralamina lucidaLaminin-332: Reduced
JEB-LOC syndrome



(LOC, laryngo-onycho-cutaneous)



No blisteringLaminin-332: Normal
Dominant dystrophic epidermolysis bullosa
All subtypesSublamina densa (dermal)Type XVII collagen: normal or reduced 
Bullous dermolysis of the newbornSublamina 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 newbornSublamina 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 intermediateSublamina densa (dermal)Type XVII collagen: Reduced 
LocalizedSublamina densa (dermal)Type XVII collagen: Normal or reduced or normal
All other subtypesSublamina 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 simplexTransglutaminase 5; plakophillin 1 desmoplakin; plakoglobin
 Basal epidermolysis bullosa simplexKeratins 5 and 14; plectin; exophilin 5(Slac2-b); bullous pemphigoid antigen1
Intralamina lucidaJunctional epidermolysis bullosa, generalizedLaminin-332; type XVII collagen; α6β4 integrin; α3 integrin
 Junctional epidermolysis bullosa, localizedType XVII collagen; laminin-332;  α6β4 integrin
Sublamina densa Dominant dystrophic epidermolysis bullosaType VII collagen
 Recessive dystrophic epidermolysis bullosaType VII collagen
MixedKindler syndromeKindlin-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 - SuprabasalPKP1 (plakophilin1)Splice site, nonsense, deletion, deletion/insertion, insertion
 DSP (desmoplakin)Nonsense, deletion, missense
 TGMSMissense, deletion, deletion/insertion
 JUPNonsense, splice site
Epidermolysis bullosa simplex - BasalKRT5 (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,
 EXPH5Deletion, nonsense, insertion
 DSTNonsense
Junctional epidermolysis bullosa - GeneralizedLAMA3Nonsense, deletion, splice site
 LAMB3Nonsense, deletion, splice site, insertion,
 LAMC2 Nonsense, deletion, splice site, deletion/insertion
Junctional epidermolysis bullosa,  generalized/localizedLAMA3 Missense, nonsense, insertion, splice site
 LAMB3Missense, 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 atresiaITGB4 (α6β4 integrin)



 



Nonsense, missense, deletion, splice site, insertion deletion/insertion
 ITGA6Deletion, missense, nonsense, splice site
Junctional epidermolysis bullosa with pyloric atresiaITGA3Missense, deletion, splice site
Junctional epidermolysis bullosa with respiratory and renal involvementLAMA3AInsertion, nonsense
Dystrophic epidermolysis bullosa, severe generalizedCOL17A1 (type VII collagen)Nonsense, deletion,  splice site, insertion, deletion/insertion, missense,
Dystrophic epidermolysis bullosa, generalized and localizedCOL17A1 (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 syndromeKIND1 (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 deficiencyPlakophilin-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 syndromelaminin-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
Previous
Next
 
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.