Pediatric Epidermolysis Bullosa
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Epidermolysis bullosa (EB) is a rare group of inherited disorders that manifests as blistering or erosion of the skin and, in some cases, the epithelial lining of other organs, in response to little or no apparent trauma. See the image below.
See 13 Common-to-Rare Infant Skin Conditions, a Critical Images slideshow, to help identify rashes, birthmarks, and other skin conditions encountered in infants.
More than 30 types of epidermolysis bullosa have been described, rendering categorization of the types controversial and often confusing. An international consensus meeting in Vienna, Austria in 2008 reaffirmed the following currently used names for the four major types of epidermolysis bullosa [1] :
Epidermolytic – Epidermolysis bullosa simplex (EBS)
Lucidolytic – Junctional epidermolysis bullosa (JEB)
Dermolytic – Dystrophic epidermolysis bullosa (DEB)
Multiple levels of blistering – Kindler syndrome
These major types were based on the precise ultrastructural level at which the split responsible for blistering occurs. The leading authority on epidermolysis bullosa added Kindler syndrome as the fourth major epidermolysis bullosa type in 2008 with a unique clinical phenotype—photosensitivity. [1]
The three main types of epidermolysis bullosa were clinically and histologically delineated by the 1960s. [2] In the 1970s, electron microscopy revealed abnormal epidermal keratin filaments in epidermolysis bullosa simplex, disordered dermal anchoring fibrils in dystrophic epidermolysis bullosa, and defective hemidesmosomes in junctional epidermolysis bullosa. Antigens identified with immunohistochemistry in the 1980s [3, 4] led to discovery of the major epidermolysis bullosa genes in the 1990s. [5, 6, 7]
The identified genes include those that encode keratins 5 and 14 in epidermolysis bullosa simplex, collagen VII in dystrophic epidermolysis bullosa, and laminin 5 in Herlitz junctional epidermolysis bullosa. Toward the end of millennium, as the complex structure of desmosomes and hemidesmosomes was unraveled, the genes responsible for the rare subtypes were found, including those that encode α6β4 integrin in epidermolysis bullosa with pyloric atresia, plectin in epidermolysis bullosa with muscular dystrophy, and plakophilin in epidermolysis bullosa with ectodermal dysplasia.
During the past few years, systemic data collection and analysis have been performed on several thousands of patients with epidermolysis bullosa worldwide, and more than 1000 mutations, encompassing more than 10 structural genes, have now been documented. More has been learned about the molecular basis of epidermolysis bullosa, a group of diseases that shares clinical or molecular features with several other genodermatoses.
Eponyms associated with different forms of epidermolysis bullosa include the following:
Dowling-Meara
Köebner
Weber-Cockayne
Kallin
Mendes de Costa
Herlitz
Ogna
Carmi
Cockayne-Touraine
Pasini
Hallopeau-Siemens
Shabbir
Laryngoonychocutaneous (LOC)
Cytolysis causes blisters in the epidermis or basement membrane zone of the skin. In epidermolysis bullosa simplex, cytolysis causes blisters in the basal or spinous layers of the epidermis, and keratinocytes often have abnormal density and organization of keratin filaments. In junctional epidermolysis bullosa, the epidermis separates from the basal lamina, forming a blister cavity in the plane of the lamina lucida, where hemidesmosome structure and density are frequently diminished. In dystrophic epidermolysis bullosa, the basal lamina remains attached to the epidermis, but the blister cavity forms beneath the lamina densa of dermoepidermal junction, and anchoring fibrils may appear abnormal, reduced in number, or altogether absent.
United States
The exact prevalence of epidermolysis bullosa is unknown. Mild variants have been estimated to occur as frequently as 1 per 50,000 births. The more severe varieties are believed to occur in 1 per 500,000 births annually.
Between 1986 and 2002, the National Institutes of Health (NIH) funded the National EB Registry (NEBR), a cross-sectional and longitudinal epidemiological study of epidermolysis bullosa patients across the entire continental United States. Nearly 3300 epidermolysis bullosa patients were identified, enrolled, classified, clinically characterized, and followed for outcomes. The incidence and prevalence of epidermolysis bullosa was estimated at approximately 19 cases per 1 million live births and 11 cases per 1 million population. [8, 9] These data were then used to estimate carrier frequencies for epidermolysis bullosa within the United States, which is between 1 in 300 and 1 in 800. [10]
The prevalence of inherited epidermolysis bullosa subtypes in the United States in January 2002, based on the NEBR was as follows [9] :
The incidence of inherited epidermolysis bullosa subtypes in the United States from 1986 to 2002, based on the NEBR was as follows [9] :
International
The point prevalence of all forms of epidermolysis bullosa in Scotland was 49.0 cases per million, comprising epidermolysis bullosa simplex at 28.6 cases per million and dystrophic epidermolysis bullosa at 20.4 cases per million population. [11]
The incidence rate of new cases of epidermolysis bullosa diagnosed per year in Northern Ireland during a 23-year period (1962-84) is 1.4 cases per million and the prevalence of all forms estimated at 32 cases per million population. The prevalence of simplex, junctional, and dystrophic forms is 28 cases, 0.7 case, and 3 cases per million population, respectively. [12]
The estimated prevalence of each type of epidermolysis bullosa in Japan was as follows: simplex type, 2.9-4 cases per million population; junctional type, 0.15-0.20 cases per million population; dominant dystrophic type, 1.1-1.5 cases per million population; and recessive dystrophic type, 1.5-2.1 cases per million population. [13]
The prevalence of epidermolysis bullosa in Croatia, Yugoslavia, from 1960-1987 was 9.5 cases per million population. [14]
In the United Kingdom, prevalence rates of epidermolysis bullosa have been estimated to range from 15-32 cases per million population. [11, 12, 15]
Data from the Australasian EB Registry provided a prevalence estimate of 10 cases per million live births. [16]
The epidermolysis bullosa simplex Ogna variant has been described in Norwegian individuals.
Epidermolysis bullosa is an autosomal inherited disorder. The incidence does not differ by sex.
The onset of epidermolysis bullosa simplex is at birth or early infancy. The onset of junctional epidermolysis bullosa is at birth. The onset of dystrophic epidermolysis bullosa is at birth or early childhood. The onset of Kindler syndrome is usually within the first year of life.
Epidermolysis bullosa is chronic. Patients should restrict and modify their activity to avoid the serious complications of blistering. Depending on the type of epidermolysis bullosa, disease severity may range from occasional mild blistering of the hands and feet to severe and widespread formation of bullae. These lesions may result in nonhealing erosions, infection, scarring, and joint contracture. Mortality is also related to the abnormalities or anomalies associated with epidermolysis bullosa.
Epidermolysis bullosa continues to be devastating disease with high incidence of aggressive squamous cell carcinoma (SCC). SCC is the most serious complication of epidermolysis bullosa within adults, especially those with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. By mid adulthood, nearly all patients have had at least one SCC, and nearly 80% die from metastatic SCC. [17] recessive dystrophic epidermolysis bullosa SCC is highly aggressive and has early metastatic spread. Recessive dystrophic epidermolysis bullosa SCC most commonly occurs in chronic nonhealing ulcers and over bony prominences on limbs where UV light exposure is minimal. Unlike most cancers, recessive dystrophic epidermolysis bullosa SCC is generally well-differentiated but behaves in a highly aggressive manner and has high metastatic potential. [18]
Risk of death from renal disease is noted. Causes include renal failure, poststreptococcal glomerulonephritis, secondary amyloidosis, and chronic mechanical obstruction. The cumulative risk of death from renal failure among patients with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa is 12.3% by age 35 years. [19] Death may occur during infancy or early childhood, due to sepsis, renal failure, upper airway occlusion, or failure to thrive. [19, 20]
Healing of dystrophic epidermolysis bullosa results in dystrophic or scarring change. In epidermolysis bullosa simplex, when blisters cleave in the epidermis, healing occurs without scarring. In junctional epidermolysis bullosa, when blisters cleave below the epidermis but above the basal lamina, blistering leads to mild atrophic changes.
[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].
Pearson RW. Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol. 1962 Dec. 39:551-75. [Medline].
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].
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].
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].
Smith LT. Ultrastructural findings in epidermolysis bullosa. Arch Dermatol. 1993 Dec. 129(12):1578-84. [Medline].
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].
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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. [Medline].
Pfendner E, Uitto J, Fine JD. Epidermolysis bullosa carrier frequencies in the US population. J Invest Dermatol. 2001 Mar. 116 (3):483-4. [Medline].
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].
McKenna KE, Walsh MY, Bingham EA. Epidermolysis bullosa in Northern Ireland. Br J Dermatol. 1992 Oct. 127(4):318-21. [Medline].
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].
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].
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. [Medline].
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].
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. [Medline].
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].
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].
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].
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].
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].
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].
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].
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].
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].
Rubin AI, Garzon MC, Morel KD. Herpetic infection in epidermolysis bullosa. Pediatr Dermatol. 2006 Jul-Aug. 23(4):355-7. [Medline].
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].
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].
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].
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].
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].
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].
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].
Sawamura D, Nakano H, Matsuzaki Y. Overview of epidermolysis bullosa. J Dermatol. 2010 Mar. 37(3):214-9. [Medline].
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. [Medline].
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].
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
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
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
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
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.
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.
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.
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.
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.
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.
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