Login Register Cart 0
Generic placeholder image

Current Pediatric Reviews

Editor-in-Chief

ISSN (Print): 1573-3963
ISSN (Online): 1875-6336

Back
Journal Home About Journal Editorial Board Journal Insight Current Issue Volumes/Issues
Subscribe
Review Article

Epidermolysis Bullosa: Pediatric Perspectives

Author(s): Kam Lun Hon*, Samantha Chu and Alexander K.C. Leung

Volume 18, Issue 3, 2022

Published on: 21 December, 2021

Page: [182 - 190] Pages: 9

DOI: 10.2174/1573396317666210525161252

Price: $65

conference banner
Abstract

Epidermolysis bullosa (EB) is a group of rare congenital genetic conditions that result in painful blistering of the skin and mucous membranes, which occur with minor trauma or friction. There are many types and subtypes of EB that need to be distinguished, as the management and prognosis of each can vary significantly. We aim to perform an up-to-date literature review on congenital EB for healthcare providers in pediatrics.

We performed a review of existing literature in the English language on EB via PubMed Clinical Queries, using key words such as “epidermolysis bullosa”, “congenital” and “children”. We reviewed EB based on the following subheadings: epidemiology, diagnosis, therapy, prognosis, and clinical prediction guidelines.

EB is due to mutation in a number of genes, some types are autosomal dominant while others are autosomal recessive. The underlying mechanism is a defect in attachment between or within the epidermis and dermis of the skin. There are four main types: epidermolysis bullosa simplex, dystrophic epidermolysis bullosa, junctional epidermolysis bullosa, and Kindler syndrome. The diagnosis is suspected based on symptoms and confirmed by skin biopsy and definitive genetic testing. The severity of EB can range from mild to fatal. Severe complications may arise in some EB types and subtypes within the eye, ear, nose, upper airway, gastrointestinal and genitourinary tracts. There is no cure for the condition to date. Optimal management must be multidisciplinary, and involves wound care, pain control, controlling infections, nutritional support, and prevention and treatment of complications.

EB presents in different forms. Treatment is supportive. The prognosis of milder forms is good. Children severely affected with EB and their families live a misery life with impaired quality of life. Health care workers must be aware of the suffering in these families and proactively support them.

Keywords: Epidermolysis bullosa, simplex, dystrophica, junctional, prognosis, mutations.

« Previous Next »
Graphical Abstract

[1]
Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis 2010; 5(1): 12.
[http://dx.doi.org/10.1186/1750-1172-5-12] [PMID: 20507631]
[2]
Mehren CR, Gniadecki R. Epidermolysis bullosa acquisita: Current diagnosis and therapy. Dermatol Rep 2011; 3(3): e38.
[http://dx.doi.org/10.4081/dr.2011.e38] [PMID: 25386290]
[3]
Gonzalez ME. Evaluation and treatment of the newborn with epidermolysis bullosa. Semin Perinatol 2013; 37(1): 32-9.
[http://dx.doi.org/10.1053/j.semperi.2012.11.004] [PMID: 23419761]
[4]
Epidermolysis Bullosa Simplex - PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/20301543/
[5]
Pfendner EG, Lucky AW. Junctional Epidermolysis Bullosa 2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1125/ [Accessed June 26, 2020
[6]
Epidermolysis bullosa Available from: https://dermnetnz.org/topics/epidermolysis-bullosa/
[7]
Zhao CY, Murrell DF. Blistering diseases in neonates. Curr Opin Pediatr 2016; 28(4): 500-6.
[http://dx.doi.org/10.1097/MOP.0000000000000381] [PMID: 27386969]
[8]
Fine JD. Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the national epidermolysis Bullosa registry. JAMA Dermatol 2016; 152(11): 1231-8.
[http://dx.doi.org/10.1001/jamadermatol.2016.2473] [PMID: 27463098]
[9]
Epidermolysis Bullosa in Finland. Clinical features, morphology and relation to collagen metabolism Available from: https://pubmed.ncbi.nlm.nih.gov/6331034/
[10]
Chong SC, Hon KL, Scaglia F, et al. Severe generalized epidermolysis bullosa simplex in two hong kong children due to de novo variants in KRT14 and KRT5. Case Rep Pediatr 2020; 2020: 4206348.
[http://dx.doi.org/10.1155/2020/4206348] [PMID: 32351751]
[11]
Forrest K, Mellerio JE, Robb S, et al. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord 2010; 20(11): 709-11.
[http://dx.doi.org/10.1016/j.nmd.2010.06.003] [PMID: 20624679]
[12]
Villa CR, Ryan TD, Collins JJ, Taylor MD, Lucky AW, Jefferies JL. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Neuromuscul Disord 2015; 25(2): 165-8.
[http://dx.doi.org/10.1016/j.nmd.2014.09.011] [PMID: 25454730]
[13]
Junctional Epidermolysis Bullosa Available from: https://pubmed.ncbi.nlm.nih.gov/28599695/
[14]
Junctional Epidermolysis Bullosa Available from: https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#
[15]
Castori M, Floriddia G, De Luca N, et al. Herlitz junctional epidermolysis bullosa: Laminin-5 mutational profile and carrier frequency in the Italian population. Br J Dermatol 2008; 158(1): 38-44.
[http://dx.doi.org/10.1111/j.1365-2133.2007.08208.x] [PMID: 17916201]
[16]
Dystrophic Epidermolysis Bullosa - PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/20301481/
[17]
Almaani N, Liu L, Dopping-Hepenstal PJC, et al. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm Venereol 2011; 91(3): 262-6.
[http://dx.doi.org/10.2340/00015555-1053] [PMID: 21448560]
[18]
Jiang W, Sun Y, Li S, Chen XX, Bu DF, Zhu XJ. Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type. Br J Dermatol 2005; 152(6): 1357-9.
[http://dx.doi.org/10.1111/j.1365-2133.2005.06638.x] [PMID: 15949010]
[19]
Kindler Syndrome - GeneReviews® - NCBI Bookshelf Avaiable from: https://www.ncbi.nlm.nih.gov/books/NBK349072/
[20]
Anwar MI, Rashid A, Ghafoor R, Tahir M, Rao SU, Mir F. Kindler’s syndrome: A report of five cases in a family. J Coll Physicians Surg Pak 2014; 24(10): 763-5.
[http://dx.doi.org/10.2014/JCPSP.763765] [PMID: 25327923]
[21]
Burch JM, Fassihi H, Jones CA, Mengshol SC, Fitzpatrick JE, McGrath JA. Kindler syndrome: A new mutation and new diagnostic possibilities. Arch Dermatol 2006; 142(5): 620-4.
[http://dx.doi.org/10.1001/archderm.142.5.620] [PMID: 16702500]
[22]
Guerrero-Aspizua S, Conti CJ, Escamez MJ, et al. Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: Study of a series of 91 patients. Orphanet J Rare Dis 2019; 14(1): 183.
[http://dx.doi.org/10.1186/s13023-019-1158-6] [PMID: 31340837]
[23]
Sathishkumar D, Ogboli M, Moss C. Classification of aplasia cutis congenita: A 25-year review of cases presenting to a tertiary paediatric dermatology department. Clin Exp Dermatol 2020; 45(8): 994-1002.
[http://dx.doi.org/10.1111/ced.14331] [PMID: 32501579]
[24]
Martinez-Regueira S, Vazquez-Lopez ME, Somoza-Rubio C, Morales-Redondo R, Gonzalez-Gay MA. Aplasia cutis congenita in a defined population from northwest Spain. Pediatr Dermatol 2006; 23(6): 528-32.
[http://dx.doi.org/10.1111/j.1525-1470.2006.00303.x] [PMID: 17155992]
[25]
Han YM, Lee N, Byun SY, Cheon SJ, Ko HC. Bart’s syndrome with novel frameshift mutations in the COL7A1 gene. Fetal Pediatr Pathol 2019; 38(1): 72-9.
[http://dx.doi.org/10.1080/15513815.2018.1543370] [PMID: 30523708]
[26]
Chen Z, Bu W, Feng S, Wang H. Bart’s syndrome in a family affected three consecutive generations with mutation c.6007G>A in COL7A1. J Dermatol 2018; 45(8): 1000-2.
[http://dx.doi.org/10.1111/1346-8138.14352] [PMID: 29722429]
[27]
Fine JD, Eady RAJ, 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; 58(6): 931-50.
[http://dx.doi.org/10.1016/j.jaad.2008.02.004] [PMID: 18374450]
[28]
Bruckner-Tuderman L, Mcgrath JA, Robinson EC, Uitto J. Progress in epidermolysis Bullosa research: Summary of DEBRA international research conference 2012. J Invest Dermatol 2013; 2121-6.
[http://dx.doi.org/10.1038/jid.2013.127]
[29]
Uitto J, Richard G. Progress in epidermolysis bullosa: Genetic classification and clinical implications. Am J Med Genet C Semin Med Genet 2004; 61-74.
[30]
Eady RAJ, Dopping-Hepenstal PJC. Transmission electron microscopy for the diagnosis of epidermolysis bullosa. Dermatol Clin 2010; 28(2): 211-22.
[http://dx.doi.org/10.1016/j.det.2009.12.001] [PMID: 20447483]
[31]
Petronius D, Bergman R, Ben Izhak O, Leiba R, Sprecher E. A comparative study of immunohistochemistry and electron microscopy used in the diagnosis of epidermolysis bullosa. Am J Dermatopathol 2003; 25(3): 198-203.
[http://dx.doi.org/10.1097/00000372-200306000-00003] [PMID: 12775981]
[32]
Alhumidi A. The Role of collagen IV and cytokeratin 5/6 immunohistochemistry in identifying subtypes of hereditary epidermolysis bullosa. Appl Immunohistochem Mol Morphol 2018; 26(8): 586-90.
[http://dx.doi.org/10.1097/PAI.0000000000000471] [PMID: 27941563]
[33]
Yenamandra VK, Bhari N, Ray SB, et al. Diagnosis of inherited epidermolysis bullosa in resource-limited settings: Immunohistochemistry revisited. Dermatology 2017; 233(4): 326-32.
[http://dx.doi.org/10.1159/000478856] [PMID: 29069641]
[34]
Barzegar M, Asadi-Kani Z, Mozafari N, Vahidnezhad H, Kariminejad A, Toossi P. Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: A first report from Iran. Int J Dermatol 2015; 54(10): e416-23.
[http://dx.doi.org/10.1111/ijd.12804] [PMID: 26220012]
[35]
Berk DR, Jazayeri L, Marinkovich MP, Sundram UN, Bruckner AL. Diagnosing epidermolysis bullosa type and subtype in infancy using immunofluorescence microscopy: The Stanford experience. Pediatr Dermatol 2013; 30(2): 226-33.
[http://dx.doi.org/10.1111/j.1525-1470.2012.01880.x] [PMID: 23461686]
[36]
Heinecke G, Marinkovich MP, Rieger KE. Intraepidermal Type VII collagen by immunofluorescence mapping: A specific finding for bullous dermolysis of the newborn. Pediatr Dermatol 2017; 34(3): 308-14.
[http://dx.doi.org/10.1111/pde.13132] [PMID: 28523885]
[37]
Yiasemides E, Walton J, Marr P, Villanueva EV, Murrell DF. A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa. Am J Dermatopathol 2006; 28(5): 387-94.
[http://dx.doi.org/10.1097/01.dad.0000211510.44865.6d] [PMID: 17012912]
[38]
Lucky AW, Dagaonkar N, Lammers K, Husami A, Kissell D, Zhang K. A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. Pediatr Dermatol 2018; 35(2): 188-97.
[http://dx.doi.org/10.1111/pde.13392] [PMID: 29334134]
[39]
Has C, Küsel J, Reimer A, et al. The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis. Acta Derm Venereol 2018; 98(4): 437-40.
[http://dx.doi.org/10.2340/00015555-2863] [PMID: 29242947]
[40]
Stein S, Stone S, Paller AS. Ongoing blistering in a boy with congenital erosive and vesicular dermatosis healing with reticulated supple scarring. J Am Acad Dermatol 2001; 45(6): 946-8.
[http://dx.doi.org/10.1067/mjd.2001.117384] [PMID: 11712046]
[41]
Yenamandra VK, Moss C, Sreenivas V, et al. Development of a clinical diagnostic matrix for characterizing inherited epidermolysis bullosa. Br J Dermatol 2017; 176(6): 1624-32.
[http://dx.doi.org/10.1111/bjd.15221] [PMID: 27925151]
[42]
Bruckner AL, Fairclough DL, Feinstein JA, et al. Reliability and validity of the instrument for scoring clinical outcomes of research for epidermolysis bullosa (iscorEB). Br J Dermatol 2018; 178(5): 1128-34.
[http://dx.doi.org/10.1111/bjd.16350] [PMID: 29341069]
[43]
The epidermolysis bullosa disease activity and scarring index (EBDASI): Grading disease severity and assessing responsiveness to clinical change in epidermolysis bullosa. J Eur Acad Dermatol Venereol 2017; 31(4): 692-8.
[44]
Moss C, Wong A, Davies P. The birmingham epidermolysis bullosa severity score: Development and validation. Br J Dermatol 2009; 160(5): 1057-65.
[http://dx.doi.org/10.1111/j.1365-2133.2009.09041.x] [PMID: 19434791]
[45]
Malchin N, Sarig O, Grafi-Cohen M, et al. A novel homozygous deletion in EXPH5 causes a skin fragility phenotype. Clin Exp Dermatol 2016; 41(8): 915-8.
[http://dx.doi.org/10.1111/ced.12908] [PMID: 27730671]
[46]
Szczecinska W, Nesteruk D, Wertheim-Tysarowska K, et al. Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. Br J Dermatol 2014; 171(5): 1206-10.
[http://dx.doi.org/10.1111/bjd.12964] [PMID: 24628291]
[47]
Diociaiuti A, Castiglia D, Morini F, et al. Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation. Acta Derm Venereol 2013; 93(1): 116-8.
[http://dx.doi.org/10.2340/00015555-1381] [PMID: 22674212]
[48]
Shukrun R, Vivante A, Pleniceanu O, et al. A human integrin-α3 mutation confers major renal developmental defects. PLoS One 2014; 9(3): e90879.
[http://dx.doi.org/10.1371/journal.pone.0090879] [PMID: 24621570]
[49]
Colombo EA, Spaccini L, Volpi L, et al. Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations. Orphanet J Rare Dis 2016; 11(1): 136.
[http://dx.doi.org/10.1186/s13023-016-0514-z] [PMID: 27717396]
[50]
Kulali F, Calkavur S, Basaran C, Serdaroglu E, Kose M, Saka Guvenc M. Una nueva mutación asociada con el síndrome de Pierson. Arch Argent Pediatr 2020; 118(3): e288-91.
[http://dx.doi.org/10.5546/aap.2020.eng.e288] [PMID: 32470267]
[51]
Yenamandra VK, Vellarikkal SK, Chowdhury MR, et al. Genotype–phenotype correlations of dystrophic epidermolysis bullosa in india: Experience from a tertiary care centre. Acta Derm Venereol 2018; 98(9): 873-9.
[http://dx.doi.org/10.2340/00015555-2929] [PMID: 29963685]
[52]
Hon KLE, Burd A, Choi PCL, Luk NMT. Epidermolysis bullosa in three Chinese neonates. J Dermatolog Treat 2007; 18(5): 306-11.
[http://dx.doi.org/10.1080/09546630701528479] [PMID: 17852634]
[53]
Pfendner EG, Lucky AW. Epidermolysis bullosa with pyloric atresia. Seattle: University of Washington 1993. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20301336
[54]
A neonate with generalised bullae and pyloric atresia Available from: https://pubmed.ncbi.nlm.nih.gov/23535685/
[55]
Chong SC, Hon KL, Yuen L, Choi CL, Ng WGG, Chiu T. Neonatal epidermolysis bullosa: Lessons to learn about genetic counselling. J Dermatolog Treat 2018; 1-14.
[56]
Hon KLE, Li JJ, Cheng BL, et al. Age and etiology of childhood epidermolysis bullosa mortality. J Dermatolog Treat 2015; 26(2): 178-82.
[http://dx.doi.org/10.3109/09546634.2014.915002] [PMID: 24724596]
[57]
Boeira VLSY, Souza ES, Rocha B de O, et al. Inherited epidermolysis bullosa: Clinical and therapeutic aspects. An Bras Dermatol 2013; 88(2): 185-98.
[http://dx.doi.org/10.1590/S0365-05962013000200001] [PMID: 23739692]
[58]
Piraccini BM, Starace M. Nail disorders in infants and children. Curr Opin Pediatr 2014; 26(4): 440-5.
[http://dx.doi.org/10.1097/MOP.0000000000000116] [PMID: 24886951]
[59]
Özyazgan I, Özyazgan I, Dündar M. Isolated congenital anonychia cases with coincident chromosomal fragility. Ann Genet 2004; 47(4): 381-6.
[http://dx.doi.org/10.1016/j.anngen.2004.03.004] [PMID: 15581836]
[60]
Bauer JW, Schaeppi H, Kaserer C, Hantich B, Hintner H. Large melanocytic nevi in hereditary epidermolysis bullosa. J Am Acad Dermatol 2001; 44(4): 577-84.
[http://dx.doi.org/10.1067/mjd.2001.112217] [PMID: 11260529]
[61]
Fernandes JD, Machado MC, Oliveira ZNP. Increased melanocytic nevi in patients with inherited ichthyoses: Report of a previously undescribed association. Pediatr Dermatol 2010; 27(5): 453-8.
[http://dx.doi.org/10.1111/j.1525-1470.2010.01092.x] [PMID: 20561241]
[62]
Lebeau S, Braun RP, Masouyé I, Perrinaud A, Harms M, Borradori L. Acquired melanocytic naevus in childhood vulval pemphigoid. Dermatology 2006; 213(2): 159-62.
[http://dx.doi.org/10.1159/000093859] [PMID: 16902297]
[63]
Cotrim CP, de Simone FT, Lima RB, Barcaui CB, Sousa MAJ, Lowy G. Astnevo da epidermólise bolhosa: Caso clínico e revisão da literature. An Bras Dermatol 2011; 86(4): 767-71.
[http://dx.doi.org/10.1590/S0365-05962011000400023] [PMID: 21987147]
[64]
Cash SH, Dever TT, Hyde P, Lee JB. Epidermolysis bullosa nevus: an exception to the clinical and dermoscopic criteria for melanoma. Arch Dermatol 2007; 143(9): 1164-7.
[http://dx.doi.org/10.1001/archderm.143.9.1164] [PMID: 17875878]
[65]
Fogel AL, Sarin KY, Teng JMC. Genetic diseases associated with an increased risk of skin cancer development in childhood. Curr Opin Pediatr 2017; 29(4): 426-33.
[http://dx.doi.org/10.1097/MOP.0000000000000514] [PMID: 28525403]
[66]
Mellerio JE, Robertson SJ, Bernardis C, et al. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines. Br J Dermatol 2016; 174(1): 56-67.
[http://dx.doi.org/10.1111/bjd.14104] [PMID: 26302137]
[67]
Chahed J, Mekki M, Ksia A, et al. Management of digestive lesions associated to congenital epidermolysis bullosa. Afr J Paediatr Surg 2015; 12(4): 221-6.
[http://dx.doi.org/10.4103/0189-6725.172544] [PMID: 26712284]
[68]
Epidermolysis Bullosa With Pyloric Atresia - PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/20301336/
[69]
Available from: https://pubmed.ncbi.nlm.nih.gov/16465009/
[70]
Short SS, Grant CN, Merianos D, Haydel D, Ford HR. A case of congenital pyloric atresia with dystrophic epidermolysis bullosa. Pediatr Surg Int 2014; 30(6): 681-4.
[http://dx.doi.org/10.1007/s00383-014-3505-y] [PMID: 24781346]
[71]
Al-Salem AH, Abdulla MR, Kothari MR, Naga MI. Congenital pyloric atresia, presentation, management, and outcome: A report of 20 cases. J Pediatr Surg 2014; 49(7): 1078-82.
[http://dx.doi.org/10.1016/j.jpedsurg.2013.10.009] [PMID: 24952792]
[72]
Al-Salem AH. Congenital pyloric atresia and associated anomalies. Pediatr Surg Int 2007; 23(6): 559-63.
[http://dx.doi.org/10.1007/s00383-007-1903-0] [PMID: 17390140]
[73]
Okoye BO, Parikh DH, Buick RG, Lander AD. Pyloric atresia: five new cases, a new association, and a review of the literature with guidelines. J Pediatr Surg 2000; 35(8): 1242-5.
[http://dx.doi.org/10.1053/jpsu.2000.8762] [PMID: 10945703]
[74]
Dessanti A, Iannuccelli M, Dore A, Meloni GB, Niolu P. Pyloric atresia: An attempt at anatomic pyloric sphincter reconstruction. J Pediatr Surg 2000; 35(9): 1372-4.
[http://dx.doi.org/10.1053/jpsu.2000.9340] [PMID: 10999704]
[75]
Kansra M, Raman VS, Kishore K, Khanna S, Puri B, Sharma A. Congenital pyloric atresia - nine new cases: Single-center experience of the long-term follow-up and the lessons learnt over a decade. J Pediatr Surg 2018; 53(11): 2112-6.
[http://dx.doi.org/10.1016/j.jpedsurg.2018.04.015] [PMID: 29754879]
[76]
Ilce Z, Erdogan E, Kara C, et al. Pyloric atresia: 15-year review from a single institution. J Pediatr Surg 2003; 38(11): 1581-4.
[http://dx.doi.org/10.1016/S0022-3468(03)00565-7] [PMID: 14614704]
[77]
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; 44(2)(Suppl.): 330-5.
[http://dx.doi.org/10.1067/mjd.2001.105480] [PMID: 11174408]
[78]
Oral manifestations and challenges in dental treatment of epidermolysis bullosa dystrophica - PubMed Available from: https://pubmed.ncbi.nlm.nih.gov/24011299/
[79]
Kajbafzadeh AM, Elmi A, Mazaheri P, Talab SS, Jan D. Genitourinary involvement in epidermolysis bullosa: Clinical presentations and therapeutic challenges. BJU Int 2010; 106(11): 1763-6.
[http://dx.doi.org/10.1111/j.1464-410X.2010.09399.x] [PMID: 20477826]
[80]
The anomalies associated with congenital solitary functioning kidney in children - PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/21196615/
[81]
Krous HF, Chadwick AE, Haas EA, Breisch E, Masoumi H. Congenital cerebellar malignant rhabdoid tumor in an infant with junctional epidermolysis bullosa. Pediatr Dev Pathol 2007; 10(6): 481-6.
[http://dx.doi.org/10.2350/06-12-0201.1] [PMID: 18001159]
[82]
Al-Thawabieh W, Lucky AW, Wong B, Motley WW. Pediatric ophthalmoplegia and ptosis in epidermolysis bullosa simplex associated with muscular dystrophy. J Pediatr Ophthalmol Strabismus 2018; 55: e26-9.
[http://dx.doi.org/10.3928/01913913-20180806-03] [PMID: 30180241]
[83]
Jones SM, Smith KA, Jain M, Mellerio JE, Martinez A, Nischal KK. The frequency of signs of meibomian gland dysfunction in children with epidermolysis bullosa. Ophthalmology 2016; 123(5): 991-9.
[http://dx.doi.org/10.1016/j.ophtha.2015.12.040] [PMID: 26876697]
[84]
Mellado F, Fuentes I, Palisson F, I Vergara J, Kantor A. Ophthalmologic approach in epidermolysis bullosa: A cross-sectional study with phenotype-genotype correlations. Cornea 2018; 37(4): 442-7.
[http://dx.doi.org/10.1097/ICO.0000000000001525] [PMID: 29384803]
[85]
Batalla A, Vicente A, Bartrons J, Prada F, Fortuny C, González-Enseñat MA. Miocardiopatía en pacientes con epidermólisis ampollosa hereditaria. Actas Dermosifiliogr 2017; 108(6): 544-9.
[http://dx.doi.org/10.1016/j.adengl.2017.05.014] [PMID: 28364942]
[86]
Feldmann R, Weglage J, Frosch M. Cognitive function in patients with epidermolysis bullosa: social adjustment and emotional problems. Klin Padiatr 2012; 224(1): 22-5.
[http://dx.doi.org/10.1055/s-0031-1295437] [PMID: 22187330]
[87]
Hon K, Choi P, Burd A, Luk N. Epidermolysis bullosa dystrophica in a chinese neonate. HK journal of paediatrics 2007. Available from: http://www.hkjpaed.org/details.asp?id=616&show=1234
[88]
Tolar J, Blazar BR, Wagner JE. Concise review: Transplantation of human hematopoietic cells for extracellular matrix protein deficiency in epidermolysis bullosa. Stem Cells 2011; 29(6): 900-6.
[http://dx.doi.org/10.1002/stem.647] [PMID: 21557391]
[89]
Lofgren S, Krol A. New therapies in pediatric dermatology. Curr Opin Pediatr 2011; 23(4): 399-402.
[http://dx.doi.org/10.1097/MOP.0b013e3283483ecf] [PMID: 21602678]
[90]
Chaurasia S, Ramappa M, Mishra D. Long-term outcome after superficial keratectomy in an infant with epidermolysis bullosa. J AAPOS 2016; 20(3): 276-8.
[http://dx.doi.org/10.1016/j.jaapos.2016.02.002] [PMID: 27108844]
[91]
Fasulakis S, Andronikou S. Balloon dilatation in children for oesophageal strictures other than those due to primary repair of oesophageal atresia, interposition or restrictive fundoplication. Pediatr Radiol 2003; 33(10): 682-7.
[http://dx.doi.org/10.1007/s00247-003-1011-9] [PMID: 12904920]
[92]
Comer GC, Ladd AL. Management of complications of congenital hand disorders. Hand Clin 2015; 31(2): 361-75.
[http://dx.doi.org/10.1016/j.hcl.2015.01.011] [PMID: 25934210]
[93]
Sternick MB, Formentini PKI, de Souza GMC, Teixeira EC, de Almeida Filho IA, da Costa SM. Treatment of feet deformities in epidermolysis bullosa. Int Orthop 2016; 40(7): 1361-5.
[http://dx.doi.org/10.1007/s00264-016-3135-1] [PMID: 26899603]
[94]
Zhou X, Zhang Y, Zhao M, et al. Surgical management of hand deformities in patients with recessive dystrophic epidermolysis bullosa. J Plast Surg Hand Surg 2020; 54(1): 33-9.
[http://dx.doi.org/10.1080/2000656X.2019.1661846] [PMID: 31502914]
[95]
Chan JM, Weisman A, King A, et al. Occupational therapy for epidermolysis bullosa: Clinical practice guidelines. Orphanet J Rare Dis 2019; 14(1): 129.
[http://dx.doi.org/10.1186/s13023-019-1059-8] [PMID: 31174559]
[96]
Elluru RG, Contreras JM, Albert DM. Management of manifestations of epidermolysis bullosa. Curr Opin Otolaryngol Head Neck Surg 2013; 21(6): 588-93.
[http://dx.doi.org/10.1097/MOO.0000000000000004] [PMID: 24157636]
[97]
El Hachem M, Zambruno G, Bourdon-Lanoy E, et al. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis 2014; 9(1): 76.
[http://dx.doi.org/10.1186/1750-1172-9-76] [PMID: 24884811]
[98]
Li AW, Prindaville B, Bateman ST, Gibson TE, Wiss K. Inpatient management of children with recessive dystrophic epidermolysis bullosa: A review. Pediatr Dermatol 2017; 34(6): 647-55.
[http://dx.doi.org/10.1111/pde.13276] [PMID: 28944966]
[99]
Clinical application of amniotic membranes on a patient with epidermolysis bullosa - PubMed Available from: https://pubmed.ncbi.nlm.nih.gov/10853786/
[100]
Wally V, Hovnanian A, Ly J, et al. Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial. J Am Acad Dermatol 2018; 78(5): 892-901.e7.
[http://dx.doi.org/10.1016/j.jaad.2018.01.019] [PMID: 29410318]
[101]
Lynne V, Burns L, Handsaker J, Murdoch JM. Epidermolysis bullosa: Management complexities for paediatric patients. British journal of nursing 2018; 27(Sup12): S20-5.
[102]
Kim KY, Namgung R, Lee SM, et al. Nutritional outcomes in children with epidermolysis bullosa: the experiences of two centers in Korea. Yonsei Med J 2014; 55(1): 264-9.
[http://dx.doi.org/10.3349/ymj.2014.55.1.264] [PMID: 24339316]
[103]
De Giuseppe R, Venturelli G, Guez S, et al. Homocysteine metabolism in children and adolescents with epidermolysis bullosa. BMC Pediatr 2016; 16(1): 173.
[http://dx.doi.org/10.1186/s12887-016-0714-7] [PMID: 27793182]
[104]
Zidorio APC, Dutra ES, Castro LCG, Carvalho KMB. Effectiveness of gastrostomy for improving nutritional status and quality of life in patients with epidermolysis bullosa: a systematic review. Br J Dermatol 2018; 179(1): 42-9.
[http://dx.doi.org/10.1111/bjd.16139] [PMID: 29168183]
[105]
Salomon Zaban ALR, Garbi Novaes MRC. Home enteral nutrition in children: A one-year experience with 184 patients in Distrito Federal, Brazil. Exp Biol Med (Maywood) 2010; 235(5): 584-9.
[http://dx.doi.org/10.1258/ebm.2009.009213] [PMID: 20463298]
[106]
Mavili E, Amaral J, Healey A, Karsli C, Pope E, Connolly B. Percutaneous interventional radiology procedures in patients with epidermolysis bullosa: Modifications and challenges. AJR Am J Roentgenol 2010; 195(2): 468-75.
[http://dx.doi.org/10.2214/AJR.09.2998] [PMID: 20651207]
[107]
Fitzmaurice BC, Lambert BG. Failed fiberoptic intubation in a child with epidermolysis bullosa, rescued with combined use of the Glidescope®. Paediatr Anaesth 2016; 26(4): 455-6.
[http://dx.doi.org/10.1111/pan.12852] [PMID: 26846727]
[108]
Togo CCG, Zidorio APC, Gonçalves VSS, Hubbard L, de Carvalho KMB, Dutra ES. Quality of life in people with epidermolysis bullosa: A systematic review. Qual Life Res 2020; 29(7): 1731-45.
[http://dx.doi.org/10.1007/s11136-020-02495-5] [PMID: 32246433]
[109]
Schräder NHB, Yuen WY, Jonkman MF. Pain quality assessment scale for epidermolysis bullosa. Acta Derm Venereol 2018; 98(3): 346-9.
[http://dx.doi.org/10.2340/00015555-2827] [PMID: 29057428]
[110]
Goldschneider KR, Good J, Harrop E, et al. Pain care for patients with epidermolysis bullosa: best care practice guidelines. BMC Med 2014; 12(1): 178.
[http://dx.doi.org/10.1186/s12916-014-0178-2] [PMID: 25603875]
[111]
Yuen WY, Duipmans JC, Jonkman MF. The needs of parents with children suffering from lethal epidermolysis bullosa. Br J Dermatol 2012; 167(3): 613-8.
[http://dx.doi.org/10.1111/j.1365-2133.2012.10993.x] [PMID: 22512671]
[112]
IL-6/IL-10 Ratio as A Prognostic and Predictive Marker of the Severity of Inherited Epidermolysis Bullosa - PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/29276186/
[113]
Tabor A. Raising awareness among healthcare providers about epidermolysis bullosa and advancing toward a cure. Journal of clinical and aesthetic dermatology 2017; 10(5): 36-48. Available from: /pmc/articles/PMC5479476/?report=abstract

Rights & Permissions Print Cite
Article Metrics
117
1
Wayfinder Image
© 2024 Bentham Science Publishers | Privacy Policy