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Pediatric Epidermolysis Bullosa

Sections Pediatric Epidermolysis Bullosa
Overview
Presentation
DDx
Workup
Treatment
Medication
Media Gallery
Tables
References

DDx

Differential Diagnoses

Workup

[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. [QxMD MEDLINE Link].
Pearson RW. Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol. 1962 Dec. 39:551-75. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Smith LT. Ultrastructural findings in epidermolysis bullosa. Arch Dermatol. 1993 Dec. 129(12):1578-84. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010 May 28. 5:12. [QxMD MEDLINE Link]. [Full Text].
Fine JD. Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry. JAMA Dermatol. 2016 Nov 1. 152 (11):1231-1238. [QxMD MEDLINE Link].
Pfendner E, Uitto J, Fine JD. Epidermolysis bullosa carrier frequencies in the US population. J Invest Dermatol. 2001 Mar. 116 (3):483-4. [QxMD MEDLINE Link].
Horn HM, Priestley GC, Eady RA, Tidman MJ. The prevalence of epidermolysis bullosa in Scotland. Br J Dermatol. 1997 Apr. 136(4):560-4. [QxMD MEDLINE Link].
McKenna KE, Walsh MY, Bingham EA. Epidermolysis bullosa in Northern Ireland. Br J Dermatol. 1992 Oct. 127(4):318-21. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Pavicic Z, Kmet-Vizintin P, Kansky A, Dobric I. Occurrence of hereditary bullous epidermolyses in Croatia. Pediatr Dermatol. 1990 Jun. 7(2):108-10. [QxMD MEDLINE Link].
Browne F, Heagerty AHM, Martinez A, Mellerio J, Moss C. The epidemiology of epidermolysis bullosa in the U.K.: A 9-year study. Br J Dermatol. 2011. 165 (Suppl 1):8.
Kho YC, Rhodes LM, Robertson SJ, Su J, Varigos G, Robertson I, et al. Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa. Arch Dermatol. 2010 Jun. 146 (6):635-40. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Kim M, Murrell DF. Update on the pathogenesis of squamous cell carcinoma development in recessive dystrophic epidermolysis bullosa. Eur J Dermatol. 2015 Apr. 25 Suppl 1:30-2. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Rubin AI, Garzon MC, Morel KD. Herpetic infection in epidermolysis bullosa. Pediatr Dermatol. 2006 Jul-Aug. 23(4):355-7. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Sawamura D, Nakano H, Matsuzaki Y. Overview of epidermolysis bullosa. J Dermatol. 2010 Mar. 37(3):214-9. [QxMD MEDLINE Link].
Guttmann-Gruber C, Piñón Hofbauer J, Tockner B, Reichl V, Klausegger A, Hofbauer P, et al. Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial. Orphanet J Rare Dis. 2021 Nov 8. 16 (1):473. [QxMD MEDLINE Link].
Bodan RC. An Insider’s Perspective to a Rare Genetic Connective Tissue Disorder. J Dermatol Nurse Assoc. Jan/Feb 2016. 8:46-56. [Full Text].
Cohn HI, Teng JM. Advancement in management of epidermolysis bullosa. Curr Opin Pediatr. 2016 Aug. 28 (4):507-16. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Chen K, Borschneck D, Zalan EJ. Anesthetic management of a pediatric patient with epidermolysis bullosa simplex undergoing spinal fusion. J Clin Anesth. 2021 Oct 30. 76:110568. [QxMD MEDLINE Link].

Media Gallery

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).

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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 (EBS)
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)
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 (DDEB)
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 (RDEB)
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 ^{[24, 25, 26]}

Epidermolysis Bullosa Subtype	Target Gene (Protein)	Types of Known Mutations
Epidermolysis bullosa simplex (EBS) - Suprabasal	PKP1 (plakophilin1)	Splice site, nonsense, deletion, deletion/insertion, insertion
	DSP (desmoplakin)	Nonsense, deletion, missense
	TGMS	Missense, deletion, deletion/insertion
	JUP	Nonsense, splice site
EBS - 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 (JEB) - Generalized	LAMA3	Nonsense, deletion, splice site
	LAMB3	Nonsense, deletion, splice site, insertion,
	LAMC2	Nonsense, deletion, splice site, deletion/insertion
JEB, 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
JEB, late onset	COL17A1 (type XVII collagen)	Missense
JEB with pyloric atresia	ITGB4 (α6β4 integrin)	Nonsense, missense, deletion, splice site, insertion deletion/insertion
	ITGA6	Deletion, missense, nonsense, splice site
JEB with pyloric atresia	ITGA3	Missense, deletion, splice site
JEB with respiratory and renal involvement	LAMA3A	Insertion, nonsense
JEB, 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 Epidermolysis Bullosa Subtypes and Their Targeted Proteins (2008 International Consensus Report ^[27])

Major Epidermolysis Bullosa Type	Major Epidermolysis Bullosa Subtypes	Targeted Protein(s)
Epidermolysis bullosa 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 epidermolysis bullosa (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 epidermolysis bullosa (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 epidermolysis bullosa (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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Author

Surasak Puvabanditsin, MD Associate Professor of Pediatrics, Rutgers Robert Wood Johnson 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; Assistant Professor of Pediatrics, Rutgers New Jersey Medical School

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.

Lauren Walzer, DO Resident Physician, Department of Pediatrics, Bristol-Myers Squibb Children's Hospital, Rutgers Robert Wood Johnson Medical School

Lauren Walzer, DO is a member of the following medical societies: American Academy of Pediatrics

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, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

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.

Sections Pediatric Epidermolysis Bullosa
Overview
Presentation
DDx
Workup
Treatment
Medication
Media Gallery
Tables
References

Pediatric Epidermolysis Bullosa Differential Diagnoses

Differential Diagnoses

References

Tables

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