Skip to main content
SpringerLink
Log in

Monitoring to Prevent Complications: Anemia, Infections, Osteopenia, Failure to Thrive, Renal Disease, Squamous Cell Carcinoma, Cardiomyopathy

  • Chapter
  • First Online:
Blistering Diseases

  • 1333 Accesses

Abstract

There have been many comorbidities identified in EB patients; the most commonly seen are anemia, infections, osteopenia, failure to thrive, renal disease, squamous cell carcinoma, and cardiomyopathy. Physicians caring for EB patients should be aware of all these complications, initially to prevent some of these from developing by establishing preventive measures and secondly to monitor closely and identify early signs and symptoms of these complications for better clinical outcomes.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Fine JD, Johnson L, Suchindran C, Bauer EA, Carter DM, McGuire J, et al. Extracutaneous manifestations of inherited epidermolysis bullosa. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the national epidermolysis bullosa registry. Baltimore: The Johns Hopkins University Press; 1999. p. 147–74.

    Google Scholar 

  2. Goodnough LT, Nissenson AR. Anemia and its clinical consequences in patients with chronic diseases. Am J Med. 2004;116(Suppl 7A):1S–2.

    PubMed  Google Scholar 

  3. Fridge JL, Vichinsky EP. Correction of the anemia of epidermolysis bullosa with intravenous iron and erythropoietin. J Pediatr. 1998;132:871–3.

    CAS  PubMed  Google Scholar 

  4. Atherton DJ, Cox I, Hann I. Intravenous iron (III) hydroxide-sucrose complex for anaemia in epidermolysis bullosa. Br J Dermatol. 1999;140:773.

    CAS  PubMed  Google Scholar 

  5. Antunes I, Resende C, Granjo E, Mesquita-Guimares J. Recombinant human erythropoietin alpha in the correction of anaemia in epidermolysis bullosa. J Eur Acad Dermatol Venereol. 1999;12:181–2.

    CAS  PubMed  Google Scholar 

  6. Kuo DJ, Bruckner AL, Jeng MR. Darbepoetin alfa and ferric gluconate ameliorate the anemia associated with recessive dystrophic epidermolysis bullosa. Pediatr Dermatol. 2006;23(6):580–5.

    PubMed  Google Scholar 

  7. Bachrach LK. Acquisition of optimal bone mass in childhood and adolescence. Trends Endocrinol Metab. 2001;12:22–8.

    CAS  PubMed  Google Scholar 

  8. Baroncelli GI, Bertelloni S, Sodini F, Saggese G. Osteoporosis in children and adolescents: etiology and management. Paediatr Drugs. 2005;7:295–323.

    PubMed  Google Scholar 

  9. Wong WL, Pemberton J. The musculoskeletal manifestations of epidermolysis bullosa: an analysis of 19 cases with a review of the literature. Br J Radiol. 1992;65:480–4.

    CAS  PubMed  Google Scholar 

  10. Kawaguchi M, Mitsuhashi Y, Kondo S. Osteoporosis in a patient with recessive dystrophic epidermolysis bullosa. Br J Dermatol. 1999;141:934–5.

    CAS  PubMed  Google Scholar 

  11. Bedocs LA, Bruckner A. Vertebral compression fractures in two pediatric patients with recessive dystrophic epidermolysis bullosa. Pediatr Dermatol. 2008;25:657.

    Google Scholar 

  12. Perman MJ, Lucky AW, Heubi JE, Azizkhan RG. Severe symptomatic hypocalcemia in a patient with RDEB treated with intravenous zoledronic acid. Arch Dermatol. 2009;145:95–6.

    PubMed  Google Scholar 

  13. Martinez AE, Mellerio JE. Osteopenia and osteoporosis in epidermolysis bullosa. Dermatol Clin. 2010;28:353–5, xi.

    CAS  PubMed  Google Scholar 

  14. Reyes ML, Cattani A, Gajardo H, GarcÃa C, McGrath JA, Palisson F. Bone metabolism in children with epidermolysis bullosa. J Pediatr. 2002;140:467–9.

    PubMed  Google Scholar 

  15. Fewtrell MS, Allgrove J, Gordon I, Brain C, Atherton D, Harper J, et al. Bone mineralization in children with epidermolysis bullosa. Br J Dermatol. 2006;154:959–62.

    CAS  PubMed  Google Scholar 

  16. Bruckner AL, Bedocs LA, Keiser E, Tang JY, Doernbrack C, Arbuckle HA, et al. Correlates of low bone mass in children with generalized forms of epidermolysis bullosa. J Am Acad Dermatol. 2011;65:1001–9.

    PubMed  Google Scholar 

  17. Fu T, Lingala B, Kent K, Bachrach LK, Bruckner AL. Patterns of bone mineral acquisition in children with epidermolysis bullosa: a longitudinal study. Br J Dermatol. 2011;165:1081–6.

    CAS  PubMed  Google Scholar 

  18. Ward K, Alsop C, Caulton J, Rubin C, Adams J, Mughal Z. Low magnitude mechanical loading is osteogenic in children with disabling conditions. J Bone Miner Res. 2004;19:360–9.

    PubMed  Google Scholar 

  19. Freeman EB, Koglmeier J, Martinez AE, Mellerio JE, Haynes L, Sebire NJ, et al. Gastrointestinal complications of epidermolysis bullosa in children. Br J Dermatol. 2008;158:1308–14.

    CAS  PubMed  Google Scholar 

  20. 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;46:147–58.

    PubMed  Google Scholar 

  21. Feurle GE, Weidauer H, Baldauf G, Schulte-Braucks T, Anton-Lamprecht I. Management of esophageal stenosis in recessive dystrophic epidermolysis bullosa. Gastroenterology. 1984;87:1376–80.

    CAS  PubMed  Google Scholar 

  22. Castillo RO, Davies YK, Lin YC, Garcia M, Young H. Management of esophageal strictures in children with recessive dystrophic epidermolysis bullosa. J Pediatr Gastroenterol Nutr. 2002;34:535–41.

    PubMed  Google Scholar 

  23. Mortell AE, Azizkhan RG. Epidermolysis bullosa: management of esophageal strictures and enteric access by gastrostomy. Dermatol Clin. 2010;28:311–8, x.

    CAS  PubMed  Google Scholar 

  24. Azizkhan RG, Denyer JE, Mellerio JE, Gonzalez R, Bacigalupo M, Kantor A, et al. Surgical management of epidermolysis bullosa: proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. Int J Dermatol. 2007;46:801–8.

    PubMed  Google Scholar 

  25. De Angelis P, Caldaro T, Torroni F, Romeo E, Foschia F, di Abriola GF, et al. Esophageal stenosis in epidermolysis bullosum: a challenge for the endoscopist. J Pediatr Surg. 2011;46:842–7.

    PubMed  Google Scholar 

  26. Haynes L, Atherton D, Clayden G. Constipation in epidermolysis bullosa: successful treatment with a liquid fiber-containing formula. Pediatr Dermatol. 1997;14:393–6.

    CAS  PubMed  Google Scholar 

  27. Kretkowsk RC. Urinary tract involvement in epidermolysis bullosa. Pediatrics. 1973;51:938–41.

    CAS  PubMed  Google Scholar 

  28. Fine JD, Johnson LB, Weiner M, Stein A, Cash S, DeLeoz J, et al. Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermylosis bullosa registry and review of the literature. J Urol. 2004;172:2040–4.

    PubMed  Google Scholar 

  29. Chan SM, Dillon MJ, Duffy PG, Atherton DJ. Nephro-urological complications of epidermolysis bullosa in paediatric patients. Br J Dermatol. 2007;156:143–7.

    CAS  PubMed  Google Scholar 

  30. Almaani N, Mellerio JE. Genitourinary tract involvement in epidermolysis bullosa. In: Murrell DF, editor. Dermatologic clinics. Philadelphia: W.B. Saunders Company; 2010. p. 343–6.

    Google Scholar 

  31. El Shafie M, Stidham GL, Klippel CH, Katzman GH, Weinfeld IJ. Pyloric atresia and epidermolysis bullosa letalis: a lethal combination in two premature newborn siblings. J Pediatr Surg. 1979;14:446–9.

    PubMed  Google Scholar 

  32. Berger TG, Detlefs RL, Donatucci CF. Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. Pediatr Dermatol. 1986;3:130–4.

    CAS  PubMed  Google Scholar 

  33. Dank JP, Kim S, Parisi MA, Brown T, Smith LT, Waldhausen J, et al. Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome: a report of 3 cases and review of the literature. Arch Dermatol. 1999;135:1243–7.

    CAS  PubMed  Google Scholar 

  34. Price AP, Hanna M, Katz DS. Epidermolysis bullosa of the bladder. AJR Am J Roentgenol. 2001;177:1486–7.

    CAS  PubMed  Google Scholar 

  35. Reitelman C, Burbige KA, Mitchell ME, Hensle TW. The urological manifestations of epidermolysis bullosa. J Urol. 1986;136:1320–2.

    CAS  PubMed  Google Scholar 

  36. Mann JF, Zeier M, Zilow E, Scharer K, Anton-Lamprecht I, Waldherr R, et al. The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases. Am J Kidney Dis. 1988;11:437–41.

    CAS  PubMed  Google Scholar 

  37. Kawasaki Y, Isome M, Takano K, Suyama K, Imaizumi T, Matsuura H, et al. IgA nephropathy in a patient with dominant dystrophic epidermolysis bullosa. Tohoku J Exp Med. 2008;214:297–301.

    CAS  PubMed  Google Scholar 

  38. Tammaro F, Calabrese R, Aceto G, Lospalluti L, Garofalo L, Bonifazi E, et al. End-stage renal disease secondary to IgA nephropathy in recessive dystrophic epidermolysis bullosa: a case report. Pediatr Nephrol. 2008;23:141–4.

    PubMed  Google Scholar 

  39. Motoyama O, Iitaka K, Nagai Y, Mizuiri S, Tsukimoto I. Association of dominant dystrophic epidermolysis bullosa with end-stage renal failure and hearing loss. Clin Exp Nephrol. 1999;3:143–5.

    Google Scholar 

  40. Suzuki S, Nakatomi Y, Sato H, Tsukada H, Arakawa M. Haemophilus parainfluenzae antigen and antibody in renal biopsy samples and serum of patients with IgA nephropathy. Lancet. 1994;343:12–6.

    CAS  PubMed  Google Scholar 

  41. Onetti Muda A, Ruzzi L, Bernardini S, Teti A, Faraggiana T. Collagen VII expression in glomerular sclerosis. J Pathol. 2001;195:383–90.

    CAS  PubMed  Google Scholar 

  42. Shimizu Y, Seki M, Kaneko S, Hagiwara M, Yoh K, Yamagata K, et al. Patients with IgA nephropathy respond strongly through production of IgA with low avidity against Staphylococcus aureus. Contrib Nephrol. 2007;157:139–43.

    PubMed  Google Scholar 

  43. Gunduz K, Vatansever S, Turel A, Sen S. Recessive dystrophic epidermolysis bullosa complicated with nephrotic syndrome due to secondary amyloidosis. Int J Dermatol. 2000;39:151–3.

    CAS  PubMed  Google Scholar 

  44. Bourke JF, Browne G, Gaffney EF, Young M. Fatal systemic amyloidosis (AA type) in two sisters with dystrophic epidermolysis bullosa. J Am Acad Dermatol. 1995;33:370–2.

    CAS  PubMed  Google Scholar 

  45. Yi S, Naito M, Takahashi K, Nogami R, Maekawa Y, Arao T. Complicating systemic amyloidosis in dystrophic epidermolysis bullosa, recessive type. Pathology. 1988;20:184–7.

    CAS  PubMed  Google Scholar 

  46. Brownstein MH, Helwig EB. Systemic amyloidosis complicating dermatoses. Arch Dermatol. 1970;102:1–7.

    CAS  PubMed  Google Scholar 

  47. Csikos M, Orosz Z, Bottlik G, Szocs H, Szalai Z, Rozgonyi Z, et al. Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. Clin Exp Dermatol. 2003;28:163–6.

    CAS  PubMed  Google Scholar 

  48. Kaneko K, Kakuta M, Ohtomo Y, Shimizu T, Yamashiro Y, Ogawa H, et al. Renal amyloidosis in recessive dystrophic epidermolysis bullosa. Dermatology. 2000;200:209–12.

    CAS  PubMed  Google Scholar 

  49. Dunnill MG, Mallett RB, Hawkins PN, Vallance PJ, Marsden RA. Severe dominant dystrophic epidermolysis bullosa complicated by systemic amyloidosis. Br J Dermatol. 1993;128:708–9.

    CAS  PubMed  Google Scholar 

  50. Ridley CM, Levy IS. Epidermolysis bullosa and amyloidosis: a case report. Trans St Johns Hosp Dermatol Soc. 1968;54:75–82.

    CAS  PubMed  Google Scholar 

  51. Reed WB, College Jr J, Francis MJ, Zachariae H, Mohs F, Sher MA, et al. Epidermolysis bullosa dystrophica with epidermal neoplasms. Arch Dermatol. 1974;110:894–902.

    CAS  PubMed  Google Scholar 

  52. Christiano AM, Crollick J, Pincus S, Uitto J. Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study. Exp Dermatol. 1999;8:146–52.

    CAS  PubMed  Google Scholar 

  53. Mallipeddi R, Keane FM, McGrath JA, Mayou BJ, Eady RA. Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa. J Eur Acad Dermatol Venereol. 2004;18:521–6.

    CAS  PubMed  Google Scholar 

  54. Yuen WY, Jonkman MF. Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature. J Am Acad Dermatol. 2011;65:780–9.

    PubMed  Google Scholar 

  55. Baek JO, Lee HY, Oh SW, Lee JS, Kim SC, Lee JR, et al. A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue. Br J Dermatol. 2010;162:880–2.

    CAS  PubMed  Google Scholar 

  56. Has C, Burger B, Volz A, Kohlhase J, Bruckner-Tuderman L, Itin P. Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer. Dermatology. 2010;221:309–12.

    CAS  PubMed  Google Scholar 

  57. Emanuel PO, Rudikoff D, Phelps RG. Aggressive squamous cell carcinoma in Kindler syndrome. Skinmed. 2006;5:305–7.

    PubMed  Google Scholar 

  58. Ortiz-Urda S, Garcia J, Green CL, Chen L, Lin Q, Veitch DP, et al. Type VII collagen is required for Ras-driven human epidermal tumorigenesis. Science. 2005;307:1773–6.

    CAS  PubMed  Google Scholar 

  59. Pourreyron C, Cox G, Mao X, Volz A, Baksh N, Wong T, et al. Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol. 2007;127:2438–44.

    CAS  PubMed  Google Scholar 

  60. Shivaswamy KN, Sumathy TK, Shyamprasad AL, Ranganathan C. Squamous cell carcinoma complicating epidermolysis bullosa in a 6-year-old girl. Int J Dermatol. 2009;48:731–3.

    PubMed  Google Scholar 

  61. Mallipeddi R. Epidermolysis bullosa and cancer. Clin Exp Dermatol. 2002;27:616–23.

    CAS  PubMed  Google Scholar 

  62. Ray A, Bhattacharya S, Kumar A, Bhattacharya K. Rare occurrence of carcinoma esophagus in a case of epidermolysis bullosa. Indian J Cancer. 2009;46:72–3.

    CAS  PubMed  Google Scholar 

  63. Lotem M, Raben M, Zeltser R, Landau M, Sela M, Wygoda M, et al. Kindler syndrome complicated by squamous cell carcinoma of the hard palate: successful treatment with high-dose radiation therapy and granulocyte-macrophage colony-stimulating factor. Br J Dermatol. 2001;144:1284–6.

    CAS  PubMed  Google Scholar 

  64. McGrath JA, Schofield OM, Mayou BJ, McKee PH, Eady RA. Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases. J Cutan Pathol. 1992;19:116–23.

    CAS  PubMed  Google Scholar 

  65. Venugopal SS, Murrell DF. Treatment of skin cancers in epidermolysis bullosa. Dermatol Clin. 2010;28:283–7, ix–x.

    CAS  PubMed  Google Scholar 

  66. Martinez L, Goodman P, Crow WN. Squamous cell carcinoma of the maxillary sinus and palate in epidermolysis bullosa: CT demonstration. J Comput Assist Tomogr. 1992;16:317–9.

    CAS  PubMed  Google Scholar 

  67. Perez-Naranjo L, Herrera-Saval A, Garcia-Bravo B, Perez-Bernal AM, Camacho F. Sentinel lymph node biopsy in recessive dystrophic epidermolysis bullosa and squamous cell carcinoma. Arch Dermatol. 2005;141:110–1.

    PubMed  Google Scholar 

  68. Mohr EB, Lohmeyer JA, Mikhaimer NC, Mailander P, Schwarz T, Hauschild A. Multiple squamous cell carcinomas in junctional epidermolysis bullosa: a surgical challenge. Dermatol Surg. 2008;34:1131–6.

    CAS  PubMed  Google Scholar 

  69. Cardin-Langlois E, Hanna D, St-Amant M, Croteau F. Invasive squamous cell carcinoma of the hand in a patient with Kindler syndrome: case report and literature review. Can J Plast Surg. 2010;18:e41–3.

    PubMed Central  PubMed  Google Scholar 

  70. Weber F, Bauer JW, Sepp N, Hogler W, Salmhofer W, Hintner H, et al. Squamous cell carcinoma in junctional and dystrophic epidermolysis bullosa. Acta Derm Venereol. 2001;81:189–92.

    CAS  PubMed  Google Scholar 

  71. Yamada M, Hatta N, Sogo K, Komura K, Hamaguchi Y, Takehara K. Management of squamous cell carcinoma in a patient with recessive-type epidermolysis bullosa dystrophica. Dermatol Surg. 2004;30:1424–9.

    PubMed  Google Scholar 

  72. Rokunohe A, Nakano H, Aizu T, Kaneko T, Nakajima K, Ikenaga S, et al. Significance of sentinel node biopsy in the management of squamous cell carcinoma arising from recessive dystrophic epidermolysis bullosa. J Dermatol. 2008;35:336–40.

    CAS  PubMed  Google Scholar 

  73. Mackie GC, Avram AM. FDG PET imaging features of epidermolysis bullosa complicated by squamous cell carcinoma. Clin Nucl Med. 2005;30:69–71.

    PubMed  Google Scholar 

  74. Arnold AW, Bruckner-Tuderman L, Zuger C, Itin PH. Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa. Dermatology. 2009;219:80–3.

    PubMed  Google Scholar 

  75. McGrath JA, Schofield OM, Mayou BJ, McKee PH, Eady RA. Metastatic squamous cell carcinoma resembling angiosarcoma complicating dystrophic epidermolysis bullosa. Dermatologica. 1991;182:235–8.

    CAS  PubMed  Google Scholar 

  76. Terrill PJ, Mayou BJ, McKee PH, Eady RA. The surgical management of dystrophic epidermolysis bullosa (excluding the hand). Br J Plast Surg. 1992;45:426–34.

    CAS  PubMed  Google Scholar 

  77. Dammak A, Zribi J, Boudaya S, Mseddi M, Meziou TJ, Masmoudi A, et al. Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa-Hallopeau-Siemens: a report of four cases. Int J Dermatol. 2009;48:588–91.

    PubMed  Google Scholar 

  78. Kim M-H, Intong LRA, Murrell DF. Epidermolysis bullosa and squamous cell carcinoma. In: Jmortensen DV, editor. Squamous cell carcinoma. Hauppauge: Nova Science Publishers; 2011.

    Google Scholar 

  79. Huang L, Wong YP, Burd A. A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma. Int J Dermatol. 2011;50:52–6.

    PubMed  Google Scholar 

  80. Bastin KT, Steeves RA, Richards MJ. Radiation therapy for squamous cell carcinoma in dystrophic epidermolysis bullosa: case reports and literature review. Am J Clin Oncol. 1997;20:55–8.

    CAS  PubMed  Google Scholar 

  81. Swensson O, Christophers E. Generalized atrophic benign epidermolysis bullosa in 2 siblings complicated by multiple squamous cell carcinomas. Arch Dermatol. 1998;134:199–203.

    CAS  PubMed  Google Scholar 

  82. Hsieh CH, Kuo YR, Huang PH, Jeng SF. Free anterolateral thigh perforator flap for reconstruction of dystrophic epidermolysis bullosa-associated squamous cell carcinoma in the foot: case report. Ann Plast Surg. 2003;50:201–3.

    PubMed  Google Scholar 

  83. Saxena A, Lee JB, Humphreys TR. Mohs micrographic surgery for squamous cell carcinoma associated with epidermolysis bullosa. Dermatol Surg. 2006;32:128–34.

    CAS  PubMed  Google Scholar 

  84. Souza CS, Felicio LB, Bentley MV, Tedesco AC, Ferreira J, Kurachi C, et al. Topical photodynamic therapy for Bowen’s disease of the digit in epidermolysis bullosa. Br J Dermatol. 2005;153:672–4.

    CAS  PubMed  Google Scholar 

  85. Fine JD, Johnson LB, Weiner M, Stein A, Suchindran C. Chemoprevention of squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: results of a phase 1 trial of systemic isotretinoin. J Am Acad Dermatol. 2004;50:563–71.

    PubMed  Google Scholar 

  86. Kindel SJ, Miller EM, Gupta R, Cripe LH, Hinton RB, Spicer RL, et al. Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. J Card Fail. 2012;18:396–403.

    PubMed Central  CAS  PubMed  Google Scholar 

  87. Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O’Connell J, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation. 1996;93:841–2.

    CAS  PubMed  Google Scholar 

  88. Lipshultz SE, Sleeper LA, Towbin JA, Lowe AM, Orav EJ, Cox GF, et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med. 2003;348:1647–55.

    PubMed  Google Scholar 

  89. Gagliardi MG. Dilated cardiomyopathy in children. Acta Paediatr Suppl. 2006;95:14–6.

    PubMed  Google Scholar 

  90. Arola A, Jokinen E, Ruuskanen O, Saraste M, Pesonen E, Kuusela AL, et al. Epidemiology of idiopathic cardiomyopathies in children and adolescents. A nationwide study in Finland. Am J Epidemiol. 1997;146:385–93.

    CAS  PubMed  Google Scholar 

  91. Towbin JA, Lowe AM, Colan SD, Sleeper LA, Orav EJ, Clunie S, et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA. 2006;296:1867–76.

    CAS  PubMed  Google Scholar 

  92. Nugent AW, Daubeney PE, Chondros P, Carlin JB, Cheung M, Wilkinson LC, et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med. 2003;348:1639–46.

    PubMed  Google Scholar 

  93. Judge DP. Use of genetics in the clinical evaluation of cardiomyopathy. JAMA. 2009;302:2471–6.

    CAS  PubMed  Google Scholar 

  94. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA. Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline. J Card Fail. 2009;15:83–97.

    PubMed  Google Scholar 

  95. Sharratt GP, Lacson AG, Cornel G, Virmani S. Echocardiography of intracardiac filling defects in infants and children. Pediatr Cardiol. 1986;7:189–94.

    CAS  PubMed  Google Scholar 

  96. Lara-Corrales I, Mellerio JE, Martinez AE, Green A, Lucky AW, Azizkhan RG, et al. Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study. Pediatr Dermatol. 2010;27:238–43.

    PubMed  Google Scholar 

  97. Brook MM, Weinhouse E, Jarenwattananon M, Nudel DB. Dilated cardiomyopathy complicating a case of epidermolysis bullosa dystrophica. Pediatr Dermatol. 1989;6:21–3.

    CAS  PubMed  Google Scholar 

  98. Melville C, Atherton D, Burch M, Cohn A, Sullivan I. Fatal cardiomyopathy in dystrophic epidermolysis bullosa. Br J Dermatol. 1996;135:603–6.

    CAS  PubMed  Google Scholar 

  99. Sidwell RU, Yates R, Atherton D. Dilated cardiomyopathy in dystrophic epidermolysis bullosa. Arch Dis Child. 2000;83:59–63.

    PubMed Central  CAS  PubMed  Google Scholar 

  100. Morelli S, Dianzani C, Sgreccia A, Porciello R, Bottoni U, Calvieri S. Reversible acute global left ventricular dysfunction in a patient with autosomal recessive dystrophic epidermolysis bullosa. Int J Cardiol. 2001;79:321–3.

    CAS  PubMed  Google Scholar 

  101. Taibjee SM, Ramani P, Brown R, Moss C. Lethal cardiomyopathy in epidermolysis bullosa associated with amitriptyline. Arch Dis Child. 2005;90:871–2.

    PubMed Central  CAS  PubMed  Google Scholar 

  102. Oh SW, Lee JS, Kim MY, Choi JY, Kim SC. Recessive dystrophic epidermolysis bullosa associated with dilated cardiomyopathy. Br J Dermatol. 2007;157:610–2.

    CAS  PubMed  Google Scholar 

  103. Bolling MC, Pas HH, de Visser M, Aronica E, Pfendner EG, van den Berg MP, et al. PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. J Invest Dermatol. 2010;130:1178–81.

    CAS  PubMed  Google Scholar 

  104. Ergul Y, Nisli K, Avci B, Omeroglu RE. Dilated cardiomyopathy associated with dystrophic epidermolysis bullosa: role of micronutrient deficiency? Turk Kardiyol Dern Ars. 2011;39:328–31.

    PubMed  Google Scholar 

  105. Fine JD, Hall M, Weiner M, Li KP, Suchindran C. The risk of cardiomyopathy in inherited epidermolysis bullosa. Br J Dermatol. 2008;159:677–82.

    PubMed Central  PubMed  Google Scholar 

  106. Ingen-Housz-Oro S, Blanchet-Bardon C, Vrillat M, Dubertret L. Vitamin and trace metal levels in recessive dystrophic epidermolysis bullosa. J Eur Acad Dermatol Venereol. 2004;18:649–53.

    CAS  PubMed  Google Scholar 

  107. Reeves WC, Marcuard SP, Willis SE, Movahed A. Reversible cardiomyopathy due to selenium deficiency. JPEN J Parenter Enteral Nutr. 1989;13:663–5.

    CAS  PubMed  Google Scholar 

  108. Lockitch G. Selenium: clinical significance and analytical concepts. Crit Rev Clin Lab Sci. 1989;27:483–541.

    CAS  PubMed  Google Scholar 

  109. Cheng TO. Selenium deficiency and cardiomyopathy. J R Soc Med. 2002;95:219–20.

    PubMed Central  PubMed  Google Scholar 

  110. Cenac A, Toure K, Diarra MB, Sergeant C, Jobic Y, Sanogo K, et al. Plasma selenium and peripartum cardiomyopathy in Bamako, Mali. Med Trop (Mars). 2004;64:151–4.

    CAS  Google Scholar 

  111. Phillips SD, Warnes CA. Peripartum cardiomyopathy: current therapeutic perspectives. Curr Treat Options Cardiovasc Med. 2004;6:481–8.

    PubMed  Google Scholar 

  112. Vijaya J, Subramanyam G, Sukhaveni V, Abdul Latheef SA, Gupta SR, Sadhasivaiah G, et al. Selenium levels in dilated cardiomyopathy. J Indian Med Assoc. 2000;98:166–9.

    CAS  PubMed  Google Scholar 

  113. Chou HT, Yang HL, Tsou SS, Ho RK, Pai PY, Hsu HB. Status of trace elements in patients with idiopathic dilated cardiomyopathy in central Taiwan. Zhonghua Yi Xue Za Zhi (Taipei). 1998;61:​193–8.

    CAS  Google Scholar 

  114. El-Aroussy W, Rizk A, Mayhoub G, Aleem SA, El-Tobgy S, Mokhtar MS. Plasma carnitine levels as a marker of impaired left ventricular functions. Mol Cell Biochem. 2000;213:37–41.

    CAS  PubMed  Google Scholar 

  115. Kothari SS, Sharma M. L-carnitine in children with idiopathic dilated cardiomyopathy. Indian Heart J. 1998;50:59–61.

    CAS  PubMed  Google Scholar 

  116. Trad O, Hamdan MA, Jamil A, Khanani MF, Ishaqi MK, Shamsi A, et al. Reversal of iron-induced dilated cardiomyopathy during therapy with deferasirox in beta-thalassemia. Pediatr Blood Cancer. 2009;52:426–8.

    PubMed  Google Scholar 

  117. Hahalis G, Alexopoulos D, Kremastinos DT, Zoumbos NC. Heart failure in beta-thalassemia syndromes: a decade of progress. Am J Med. 2005;118:957–67.

    PubMed  Google Scholar 

  118. Heymans S. Inflammation and cardiac remodeling during viral myocarditis. Ernst Schering Res Found Workshop. 2006;55:197–218.

    PubMed  Google Scholar 

  119. Okazaki T, Honjo T. Pathogenic roles of cardiac autoantibodies in dilated cardiomyopathy. Trends Mol Med. 2005;11:322–6.

    CAS  PubMed  Google Scholar 

  120. Caforio AL, Mahon NJ, Tona F, McKenna WJ. Circulating cardiac autoantibodies in dilated cardiomyopathy and myocarditis: pathogenetic and clinical significance. Eur J Heart Fail. 2002;4:411–7.

    PubMed  Google Scholar 

  121. Bostan OM, Cil E. Dilated cardiomyopathy in childhood: prognostic features and outcome. Acta Cardiol. 2006;61:169–74.

    PubMed  Google Scholar 

  122. Maisch B, Richter A, Sandmoller A, Portig I, Pankuweit S. Inflammatory dilated cardiomyopathy (DCMI). Herz. 2005;30:535–44.

    PubMed  Google Scholar 

  123. Frazier AH, Ramirez-Correa GA, Murphy AM. Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy. Prog Pediatr Cardiol. 2011;31:29–33.

    PubMed Central  PubMed  Google Scholar 

  124. van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, et al. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J. 2007;154:1130–9.

    PubMed  Google Scholar 

  125. Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008;29:270–6.

    PubMed  Google Scholar 

  126. Taibjee SM, Moss C. Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study-response. Pediatr Dermatol. 2010;27:679; author reply -80.

    PubMed  Google Scholar 

  127. Lara-Corrales I. Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study—response. Pediatr Dermatol. 2010;27:679–80.

    Google Scholar 

  128. Matitiau A, Perez-Atayde A, Sanders SP, Sluysmans T, Parness IA, Spevak PJ, et al. Infantile dilated cardiomyopathy. Relation of outcome to left ventricular mechanics, hemodynamics, and histology at the time of presentation. Circulation. 1994;90:1310–8.

    CAS  PubMed  Google Scholar 

  129. Towbin JA, Bowles NE. Dilated cardiomyopathy: a tale of cytoskeletal proteins and beyond. J Cardiovasc Electrophysiol. 2006;17:919–26.

    PubMed  Google Scholar 

  130. Burch M, Siddiqi SA, Celermajer DS, Scott C, Bull C, Deanfield JE. Dilated cardiomyopathy in children: determinants of outcome. Br Heart J. 1994;72:246–50.

    PubMed Central  CAS  PubMed  Google Scholar 

  131. Leatherbury L, Chandra RS, Shapiro SR, Perry LW. Value of endomyocardial biopsy in infants, children and adolescents with dilated or hypertrophic cardiomyopathy and myocarditis. J Am Coll Cardiol. 1988;12:1547–54.

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Section of Dermatology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

    Irene Lara-Corrales MD, MSc

  2. Department of Dermatology and Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA

    Anna L. Bruckner MD

  3. Department of Dermatology, Hospital Universitario, Universidad Autonoma de Nuevo Leon, Monterrey, Mexico

    Julio Cesar Salas Alanis MD, PhD

  4. Department of Dermatology, ST. John’s Institute of Dermatology, Guy’s and St. Thomas’ NHS Foundations Trust, London, UK

    Jemma E. Mellerio BSc, MBBS, MD, FRCP

  5. Department of Dermatology, Universidad del Desarrollo-Clínica Alemana, Santiago de Chile, RM, Chile

    Francis Pallison MD

  6. Department of Dermatology, St. George Hospital, University of NSW Medical School, Sydney, NSW, Australia

    Dédée F. Murrell MA(Camb), BMBCh(Oxf), FAAD, MD, FACD, FRCP

Authors
  1. Irene Lara-Corrales MD, MSc
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Anna L. Bruckner MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Julio Cesar Salas Alanis MD, PhD
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jemma E. Mellerio BSc, MBBS, MD, FRCP
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Francis Pallison MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Dédée F. Murrell MA(Camb), BMBCh(Oxf), FAAD, MD, FACD, FRCP
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Irene Lara-Corrales MD, MSc .

Editor information

Editors and Affiliations

  1. Department of Dermatology, St George Hospital, University of New South Wales, Sydney, New South Wales, Australia

    Dédée F. Murrell

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Lara-Corrales, I., Bruckner, A.L., Salas Alanis, J.C., Mellerio, J.E., Pallison, F., Murrell, D.F. (2015). Monitoring to Prevent Complications: Anemia, Infections, Osteopenia, Failure to Thrive, Renal Disease, Squamous Cell Carcinoma, Cardiomyopathy. In: Murrell, D. (eds) Blistering Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-45698-9_71

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-45698-9_71

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-45697-2

  • Online ISBN: 978-3-662-45698-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation