eMedicine Specialties > Pediatrics: General Medicine > Dermatology

Epidermolysis Bullosa: Follow-up

Author: Surasak Puvabanditsin, MD, Assistant Professor of Pediatrics, UMDNJ-New Jersey Medical School; Associate Professor of Pediatrics, St George's University School of Medicine, Grenada; Associate Professor of Pediatrics, Seton Hall University School of Graduate Medical Education
Coauthor(s): Erik Brandsma, MD, Fellow, Division of Neonatology, Department of Peditrics, UMDNJ-Robert Wood Johnson Medical School; Nisha Patel, MD, Resident Physician, Westchester Medical Center, Maria Ferrari Children's Hospital; Rungtiwa Weerasethsiri, MD, Staff Physician, Department of Pediatrics, UMDNJ-New Jersey Medical School; Alexis A D'Elia, MD, Resident Physician, Department of Internal Medicine, Winthrop University Hospital
Contributor Information and Disclosures

Updated: Jul 30, 2009

Follow-up

Further Outpatient Care

  • Preventive measures are the key to successful management of epidermolysis bullosa (EB).
  • Epidermolysis bullosa requires cooperation of patients, parents, and physicians caring for the patient.
  • Medical surveillance for involvements of kidney, urinary tract, eye, and GI tract should become part of the routine evaluation of children and adults with epidermolysis bullosa.

Deterrence/Prevention

  • A water mattress and soft fleece covering help to limit the friction and trauma that lead to blistering.
  • Avoid directly taping to the skin.
  • Keeping the palms and soles cool and dry during hotter weather helps to minimize blistering, especially in the Weber-Cockayne type of epidermolysis bullosa simplex (EBS).

Complications

  • Secondary infections (eg, pseudomonal, staphylococcal, beta-hemolytic streptococcal, and herpes organisms)13
  • Mitten deformities (pseudosyndactyly) of the fingers and toes11
  • Scarring of the skin
  • Pigmentary changes
  • Anonychia
  • Dental anomalies
  • GI complications: These may arise within the esophagus, stomach, small and large intestines, rectum, and anus. Esophageal stricture and growth retardation are commonly reported in patients with the more severe epidermolysis bullosa subtype.14,15,16
  • Genitourinary tract complications: These include urethral meatal stenosis, urinary retention, bladder hypertrophy, hydronephrosis secondary to ureteral strictures, pyelonephritis, and cystitis. The complications occur in a minority of patients across all major epidermolysis bullosa subtypes, with the highest frequency seen in Herlitz junctional epidermolysis bullosa (JEB-H).17,18
  • Ocular diseases: Ocular diseases in epidermolysis bullosa include corneal erosions or blistering, corneal scarring, cornea opacity, cornea ulcerations, symblepharons, blepharitis, ectropions, red watery eyes, photophobia, conjunctival injection, conjunctival edema, limbal broadening, pannus formation, ectropions, ocular pain, lacrimal duct obstruction, impair vision, and blindness.19 The most common complications include corneal erosions and blisters, and frequencies mirror relative severity of the skin disease.
  • Ear, nose, and throat: These complications include tracheolaryngeal stenosis or stricture, chronic otitis media, chronic otitis externa, and hearing loss.20

Prognosis

  • Epidermolysis bullosa is chronic.
  • Patients should restrict and modify their activity to avoid the serious complications of blistering.
  • 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.10
  • 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.8

Miscellaneous

Medicolegal Pitfalls

  • Appropriate genetic counseling is the responsibility of the treating physician in epidermolysis bullosa (EB), as it is in any inherited disorder.
  • Accurate diagnosis requires careful evaluation of the patient, appropriate family histories, cutaneous biopsy, electron microscopy, and immunofluorescent study.
  • DNA-based diagnosis and fetal skin biopsy have been successfully established as prenatal tests in families at risk for recurrence.
 
Acknowledgments

The authors thank Judy Wilkinson, librarian at the Jersey CityMedicalCenter, 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 eMedicine gratefully acknowledge the contributions of previous coauthor Eugene Garrow, MD, to the original writing and development of this article.



More on Epidermolysis Bullosa

Overview: Epidermolysis Bullosa
Differential Diagnoses & Workup: Epidermolysis Bullosa
Treatment & Medication: Epidermolysis Bullosa
Follow-up: Epidermolysis Bullosa
Multimedia: Epidermolysis Bullosa
References
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References

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Further Reading

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Keywords

epidermolysis bullosa, EB, bullous disorder, blister, blistering, skin erosion, epidermolysis bullosa simplex, EBS, junctional epidermolysis bullosa, JEB, dystrophic epidermolysis bullosa, DEB, Herlitz junctional EB, pyloric atresia, ectodermal dysplasia, Dowling-Meara syndrome, Köbner syndrome, Weber-Cockayne syndrome, Kallin syndrome, Mendes de Costa syndrome, Ogna syndrome, Carmi syndrome, Cockayne-Touraine syndrome, Pasini syndrome, Hallopeau-Siemens syndrome, Shabbir syndrome, Kindler syndrome, muscular dystrophy, failure to thrive, squamous cell carcinoma, SCC, treatment, diagnosis

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Contributor Information and Disclosures

Author

Surasak Puvabanditsin, MD, Assistant Professor of Pediatrics, UMDNJ-New Jersey Medical School; Associate Professor of Pediatrics, St George's University School of Medicine, Grenada; Associate Professor of Pediatrics, Seton Hall University School of Graduate Medical Education
Surasak Puvabanditsin, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Coauthor(s)

Erik Brandsma, MD, Fellow, Division of Neonatology, Department of Peditrics, UMDNJ-Robert Wood Johnson Medical School
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 and Phi Beta Kappa
Disclosure: Nothing to disclose.

Rungtiwa Weerasethsiri, MD, Staff Physician, Department of Pediatrics, UMDNJ-New Jersey Medical School
Rungtiwa Weerasethsiri, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Alexis A D'Elia, MD, Resident Physician, Department of Internal Medicine, Winthrop University Hospital
Alexis A D'Elia, MD is a member of the following medical societies: American College of Physicians
Disclosure: Nothing to disclose.

Medical Editor

Kevin P Connelly, DO, Clinical Assistant Professor, Department of Pediatrics, Division of General Pediatrics and Emergency Care, Virginia Commonwealth University; 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, and American Osteopathic Association
Disclosure: Nothing to disclose.

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Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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