| Patient Education |
|
Click here for patient education.
|
|
You are in: eMedicine Specialties >
Pediatrics: General Medicine > Dermatology
Epidermolysis Bullosa
Article Last Updated: Jun 13, 2007
AUTHOR AND EDITOR INFORMATION
Section 1 of 11  
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 is a member of the following medical societies: American Academy of Pediatrics
Coauthor(s):
Eugene Garrow, MD, Chief of Pediatric Surgery, Jersey City Medical Center; Associate Professor, Department of Surgery, Mount Sinai School of Medicine;
Rungtiwa Weerasethsiri, MD, Staff Physician, Department of Pediatrics, Mount Sinai School of Medicine, New Jersey;
Alexis A D'Elia, BA, St George's University School of Medicine, Grenada;
Nisha Patel, BA, St George's University School of Medicine
Editors: 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; Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc; Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School; Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences; Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Author and Editor Disclosure
Synonyms and related 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, Köbner, Weber-Cockayne, Kallin, Mendes de Costa, Ogna, Carmi, Cockayne-Touraine, Pasini, Hallopeau-Siemens
Background
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. Categorizations of the types of EB were once controversial and often confusing because more than 20 types of EB have been described. However, major subtypes of EB are recognized: EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB). These major subtypes depend on the precise ultrastructural level at which the split responsible for blistering occurs. The 3 main types of EB were clinically and histologically delineated by the 1960s. In the 1970s, electron microscopy revealed abnormal epidermal keratin filaments in EBS, disordered dermal anchoring fibrils in DEB, and defective hemidesmosomes in JEB. Antigens identified with immunohistochemistry in the 1980s led to discovery of the major EB genes in the 1990s. The identified genes included those that encode keratins 5 and 14 in EBS, collagen VII in DEB, and laminin 5 in Herlitz JEB. 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 EB with pyloric atresia, plectin in EB with muscular dystrophy, and plakophilin in EB with ectodermal dysplasia.
Eponyms associated with different forms of EB include the following: - Dowling-Meara
- Köbner
- Weber-Cockayne
- Kallin
- Mendes de Costa
- Herlitz
- Ogna
- Carmi
- Cockayne-Touraine
- Pasini
- Hallopeau-Siemens
Pathophysiology
Cytolysis causes blisters in the epidermis or basement membrane zone of the skin. In EBS, cytolysis causes blisters in the basal or spinous layers of the epidermis, and keratinocytes often have abnormal density and organization of keratin filaments. In JEB, 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 DEB, 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.
Frequency
United States
The exact prevalence of EB 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.
Mortality/Morbidity
Depending on the type of EB, 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 EB.
- Healing of DEB results in dystrophic or scarring change.
- In EBS, when blisters cleave in the epidermis, healing occurs without scarring.
- In JEB, when blisters cleave below the epidermis but above the basal lamina, blistering leads to mild atrophic changes.
Race
The EBS Ogna variant was described in Norwegian individuals.
Sex
EB is an autosomal inherited disorder. The incidence does not differ by sex.
Age
- The onset of EBS occurs at birth or early infancy.
- The onset of JEB occurs at birth.
- The onset of DEB occurs at birth or early childhood.
History
Important findings in general include the age of onset; the size, frequency, and location of blisters; and the possible inciting factors (eg, heat, trauma). Check for a family history of blistering disease and for the patient's geographic and racial ancestry. Evaluation of any patient with suspected epidermolysis bullosa (EB) should include mapping of the family's pedigree. However, an absence of affected family members does not, by itself, establish that the mode of transmission is autosomal recessive because apparently isolated cases can be due to spontaneous mutation or incomplete penetrance of an autosomal dominant trait. Review of systems should include a search for mucosal involvement, including oral, nasopharyngeal, ocular, genitourinary, GI, and respiratory symptoms.
Physical
Perform a complete physical examination with emphasis on inspecting all skin areas and mucosal surfaces. Evaluate the size, location, and character of the blisters and determine the level at which to slit them. Examine the patient for involvement of the nails, hair, or teeth. Areas prone to blistering due to pressure, trauma, or excessive heating include the fingers, hands, elbows, feet, legs, and diaper area (in infants) (see Images 1-5).
Congenital localized absence of skin is now known to be a phenotypic pattern that neonates with any major form of EB may demonstrate at birth (see Image 6-7).
Causes
- Genetics
- EBS is an autosomal dominant disorder.
- JEB is an autosomal recessive disorder.
- DEB is either autosomal dominant or autosomal recessive.
- Types of EB and Associated Characteristics
| Type of EB | Feature on Light Microscopy | Feature on Electron Microscopy | Protein or Antigen | Gene |
|---|
| EBS (Dowling-Meara) | Epidermis | Keratin filaments | Keratin 5 | KRT5 | | EBS (Weber-Cockayne) | Epidermis | Keratin filaments | Keratin 14 | KRT14 | | EB with ectodermal dysplasia | Epidermis | Desmosome, attachment plaque | Plakophilin | PKP1 | | EB with muscular dystrophy | Epidermis | Hemidesmosome lamina lucida, attachment plaque | Plectin | PLEC1 | | Non-Herlitz JEB | Basement membrane zone | Hemidesmosome lamina lucida, subbasal dense plate, anchoring filaments | Collagen XVII | BPAG2 | | JEB with pyloric atresia | Basement membrane zone | Hemidesmosome lamina lucida, subbasal dense plate, anchoring filaments | Alpha6beta4 integrin | ITGB6, ITBG4 | | Herlitz JEB, rarely non-Herlitz JEB | Basement membrane zone | Lamina densa | Laminin 5 | LAMA3, LAMB3, LAMC2 | | DEB | Dermis | Anchoring fibrils | Collagen VII | COL7A1 |
Burns, Thermal
Other Problems to be Considered
Staphylococcal scalded-skin syndrome
Staphylococcal pyoderma
Toxic epidermal necrolysis
Congenital syphilis
Intrauterine infection with herpes simplex virus
Incontinentia pigmenti
Epidermolytic hyperkeratosis
Pachonychia congenital
Benign familial pemphigus
Porphyria cutanea tarda
Kindler syndrome
Ectodermal dysplasia
Shabbir syndrome
Imaging Studies
- Radiography may indirectly help in diagnosis of certain types of EB with associated abnormalities, such as pyloric atresia (see Image 8) or genitourinary obstruction.
- Electron microscopy is the criterion standard for the diagnosis of epidermolysis bullosa (EB) (see Image 9).
- Transmission electron microscopy is a useful test in the diagnosis of EB.
- Obtain a biopsy sample from an area of skin at the edge of a fresh blister and place the sample in the appropriate glutaraldehyde fixative.
- Immunofluorescence antigen mapping and immunohistochemical staining with EB-specific monoclonal antibodies may be helpful.
- Perilesional biopsy is the most informative test.
- The immunofluorescent laboratory should be notified in advance to obtain the correct holding medium and to coordinate shipping.
Other Tests
- Mutation-based DNA testing
- With advances in molecular biology, underlying genetic defects have been identified, and various forms of EB have been linked with certain genes.
- This knowledge has provided a basis for direct detection of mutations and for indirect linkage analysis in affected families.
Histologic Findings
- Electron microscopy in the 1970s revealed abnormal epidermal keratin filaments in EBS, disordered dermal anchoring fibrils in DEB, and defective hemidesmosomes in JEB. EB has approximately 30 different subtypes.
- For other microscopic features, see Causes.
Medical Care
The treatment of epidermolysis bullosa (EB) is primarily preventive and supportive. Once blistering has occurred, the blister should be punctured with a sterile needle or a blade. This may prevent the accumulation of fluid and pressure and may thus prevent the blister from extending. Complete and gentle drainage of the fluid, accomplished by leaving the roof of the blister intact and by covering the affected area with white petrolatum–impregnated gauze, helps to promote an environment most optimal for healing. If the blister repeatedly refills with fluid, it should be drained several times. - Open wounds should be covered with nonadherent dressings such as petrolatum-impregnated gauze, hydrogels, fenestrated silicone dressings or absorbent foam silicone dressings. Tape and any significant pressure to the skin must be avoided. Dressings can be held in place with rolled gauze (such as Kerlix), with tape applied only to the dressing itself or by stockinette (such as Surgifix or Spandage).
- Some authors recommend daily application of polymyxin, bacitracin, or silver sulfadiazine topical ointments to treat open or partially healed wounds, which should be covered with petrolatum-impregnated gauze or nonadherent synthetic dressing. Gentamicin soaks (480 mg/L saline), acetic acid soaks (white vinegar), and the addition of small amounts of bleach to the bath water (eg, 1/8 cup per full tub) have been used to decrease the overgrowth of pseudomonas and staphylococcal organisms.
Surgical Care
Surgical procedures can correct the deformities of EB caused by repeated episodes of blistering and scarring of the hand. Esophageal dilatation or insertion of a gastrostomy tube may be required if esophageal strictures develop. Patients with limited donor sites for a skin graft may need advanced therapy with bioengineered skin products. Several products (eg, composite cultured skin [CCS], Graftskin, Dermagraft) have been used in the treatment of patients with EB.
Consultations
- A multidisciplinary team should perform a review in patients with EB to address the following issues:
- Regular skin care and dressing
- Pain management
- Nutrition
- Monitoring of blood levels
- Physiotherapy
- Dental treatment
- Occupational therapy
- Videofluoroscopy, barium swallow study, or both
- Echocardiography
- When necessary, an ophthalmologist, a gastroenterologist, and plastic surgeon should be consulted.
Diet
Patients with extensive cutaneous injury require increased energy (caloric) and protein intake. Vitamin and iron supplements are advised if nutritional compromise is present. If esophageal strictures develop, a blenderized diet is recommended.
Activity
Patients should avoid unnecessary trauma to the skin. Wearing loose-fitting clothing and soft, well-ventilated leather shoes is advisable. Because increased ambient temperatures exacerbate most forms of EB, a cool environment is important.
Drug therapy is not currently a component in the standard of care for this condition. See Treatment.
Further Outpatient Care
- Preventive measures are the key to successful management.
- Epidermolysis bullosa (EB) requires cooperation of patients, parents, and physicians caring for the patient.
Deterrence/Prevention
- A water mattress and soft fleece covering help to limit the friction and trauma that lead to blistering.
- Avoid taping directly 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 EBS.
Complications
- Secondary infections (eg, pseudomonal, staphylococcal, and herpes organisms)
- Pseudosyndactyly of the fingers and toes
- Scarring of the skin
- Pigmentary changes
- Anonychia
- Dental anomalies
- Dysphagia
Prognosis
- EB is chronic.
- Patients should restrict and modify their activity to avoid the serious complications of blistering.
- EB continues to be devastating disease with high incidence of aggressive squamous cell carcinoma.
- About 80% of patients with severe EB who survive to adulthood eventually die from metastatic squamous cell carcinoma that originates in the chronic wound.
Medical/Legal Pitfalls
- Appropriate genetic counseling is the responsibility of the treating physician in 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.
| Media file 1:
Ruptured bulla and newly erupted bulla of the leg in a newborn with epidermolysis bullosa simplex. |
 |  View Full Size Image | |
Media type: Photo
|
| Media file 2:
Dystrophic epidermolysis bullosa (DEB) with multiple blisters and erosions. |
 | View Full Size Image | |
Media type: Photo
|
| Media file 3:
Dystrophic epidermolysis bullosa (DEB) with generalized blistering and erosion. |
 | View Full Size Image | |
Media type: Photo
|
| Media file 4:
Dystrophic epidermolysis bullosa (DEB) that subsequently healed, with scarring. |
 | View Full Size Image | |
Media type: Photo
|
| Media file 5:
Junctional epidermolysis bullosa (JEB). Image shows a newborn with bulla of the finger, the usual site of blistering secondary to trauma. |
 | View Full Size Image | |
Media type: Photo
|
| Media file 6:
Junctional epidermolysis bullosa (JEB) with an associated defect of a congenital absence of the skin. |
 | View Full Size Image | |
Media type: Photo
|
| Media file 7:
Junctional epidermolysis bullosa (JEB) with an associated defect of a congenital absence of the skin and an ear anomaly. |
 | View Full Size Image | |
Media type: Photo
|
| Media file 8:
Contrast-enhanced radiograph of the abdomen suggestive of pyloric atresia (PA) in a patient with junctional epidermolysis bullosa (JEB). The association between PA and EB is a distinct entity and is now referred to as PA-EB syndrome. |
 | View Full Size Image | |
Media type: X-RAY
|
| Media file 9:
Electron micrograph of a skin sample shows cleavage in the intralaminar lucida in a neonate with junctional epidermolysis bullosa (JEB). |
 | View Full Size Image | |
Media type: Photo
|
- Ayman T, Yerebakan O, Ciftcioglu MA, Alpsoy E. A 13-year-old girl with recessive dystrophic epidermolysis bullosa presenting with squamous cell carcinoma. Pediatr Dermatol. Sep-Oct 2002;19(5):436-8. [Medline].
- Bart BJ. Epidermolysis bullosa and congenital localized absence of skin. Arch Dermatol. Jan 1970;101(1):78-81. [Medline].
- Bart BJ, Gorlin RJ, Anderson VE, Lynch FW. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol. Mar 1966;93(3):296-304. [Medline].
- Bart BJ, Lussky RC. Bart syndrome with associated anomalies. Am J Perinatol. Oct 2005;22(7):365-9. [Medline].
- Bello YM, Falabella AF, Schachner LA. Management of epidermolysis bullosa in infants and children. Clin Dermatol. Jul-Aug 2003;21(4):278-82. [Medline].
- Butler DF, Berger TG, James WD, et al. Bart's syndrome: microscopic, ultrastructural, and immunofluorescent mapping features. Pediatr Dermatol. Feb 1986;3(2):113-8. [Medline].
- Cetinkursun S, Ozturk H, Celasun B, Sakarya MT, Alpasian F. Epidermolysis bullosa associated with pyloric, esophageal, and anal atresia: a case report. J Pediatr Surg. Oct 1995;30(10):1477-8. [Medline].
- Chang CH, Perrin EV, Bove KE. Pyloric atresia associated with epidermolysis bullosa: special reference to pathogenesis. Pediatr Pathol. Oct-Dec 1983;1(4):449-57. [Medline].
- Christiano AM, Bart BJ, Epstein EH Jr, Uitto J. Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene. J Invest Dermatol. Apr 1996;106(4):778-80. [Medline].
- Cooper TW, Bauer EA. Epidermolysis bullosa: a review. Pediatr Dermatol. Jan 1984;1(3):181-8. [Medline].
- Cowton JA, Beattie TJ, Gibson AA, et al. Epidermolysis bullosa in association with aplasia cutis congenita and pyloric atresia. Acta Paediatr Scand. Jan 1982;71(1):155-60. [Medline].
- Dank JP, Kim S, Parisi MA, 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. Oct 1999;135(10):1243-7. [Medline].
- Das BB, Sahoo S. Dystrophic epidermolysis bullosa. J Perinatol. Jan 2004;24(1):41-7. [Medline].
- Duran-McKinster C, Rivera-Franco A, Tamayo L, et al. Bart syndrome: the congenital localized absence of skin may follow the lines of Blaschko. Report of six cases. Pediatr Dermatol. May-Jun 2000;17(3):179-82. [Medline].
- Eady RA. Epidermolysis bullosa: scientific advances and therapeutic challenges. J Dermatol. Nov 2001;28(11):638-40. [Medline].
- Fine JD. Inherited Epidermolysis Bullosa: Selected Outcomes and a Revised Classification System. Pediatr Dermatol. Jan 2000;17(1):75-83. [Medline].
- Fine JD, Bauer EA, Briggaman RA, et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol. Jan 1991;24(1):119-35. [Medline].
- Fivenson DP, Scherschun L, Choucair M, et al. Graftskin therapy in epidermolysis bullosa. J Am Acad Dermatol. Jun 2003;48(6):886-92. [Medline].
- Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol. Apr 1986;14(4):646-60. [Medline].
- Hayashi AH, Galliani CA, Gillis DA. Congenital pyloric atresia and junctional epidermolysis bullosa: a report of long-term survival and a review of the literature. J Pediatr Surg. Nov 1991;26(11):1341-5. [Medline].
- Herod J, Denyer J, Goldman A, Howard R. Epidermolysis bullosa in children: pathophysiology, anaesthesia and pain management. Paediatr Anaesth. Jun 2002;12(5):388-97. [Medline].
- Horn HM, Tidman MJ. The clinical spectrum of dystrophic epidermolysis bullosa. Br J Dermatol. Feb 2002;146(2):267-74. [Medline].
- Hurwitz S. Clinical Pediatric Dermatology. 2nd ed. Philadelphia, Pa: WB Saunders Co; 1993:432-5.
- Kanzler MH, Smoller B, Woodley DT. Congenital localized absence of the skin as a manifestation of epidermolysis bullosa. Arch Dermatol. Aug 1992;128(8):1087-90. [Medline].
- Kodama Y, Kawamoto M, Iwashita K, et al. Congenital pyloric atresia. A report on a successfully treated case and existing research. Nippon Ika Daigaku Zasshi. Aug 1986;53(4):409-15. [Medline].
- Lepinard C, Descamps P, Meneguzzi G, et al. Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk. Prenat Diagn. Jan 2000;20(1):70-5. [Medline].
- Lestringant GG, Akel SR, Qayed KI. The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature. Arch Dermatol. Aug 1992;128(8):1083-6. [Medline].
- Mallipeddi R. Epidermolysis bullosa and cancer. Clin Exp Dermatol. Nov 2002;27(8):616-23. [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. Jul 1995;15(7):647-54. [Medline].
- Melhem RE, Salem G, Mishalany H, Slim M, Der Kaloustian VM. Pyloro-duodenal atresia. A report of three families with several similarly affected children. Pediatr Radiol. Jan 24 1975;3(1):1-5. [Medline].
- Moore CC. Congenital gastric outlet obstruction. J Pediatr Surg. Dec 1989;24(12):1241-6. [Medline].
- Moss C. Skin and kin. J R Soc Med. May 2005;98(5):200-2. [Medline].
- Muller M, Morger R, Engert J. Pyloric atresia case report of four cases and review of the literature. Pediatr Surg Int. 1990;5 vol:276-9.
- 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. Aug 2000;35(8):1242-5. [Medline].
- Pai S, Marinkovich MP. Epidermolysis bullosa: new and emerging trends. Am J Clin Dermatol. 2002;3(6):371-80. [Medline].
- Pearson RW. Clinicopathologic types of epidermolysis bullosa and their nondermatological complications. Arch Dermatol. May 1988;124(5):718-25. [Medline].
- Pfendner EG, Nakano A, Pulkkinen L, Christiano AM, Uitto J. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn. Jun 2003;23(6):447-56. [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. Mar 1994;6(3):293-7. [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. Feb 2001;44(2 Suppl):330-5. [Medline].
- Rodeck CH, Eady RA, Gosden CM. Prenatal diagnosis of epidermolysis bullosa letalis. Lancet. May 3 1980;1(8175):949-52. [Medline].
- Rowe MI, O'Neill JA, Grosfeld JL. Essential of Pediatric Surgery. St Louis, Mo: Mosby; 1995:486, 501-2.
- Rubin AI, Garzon MC, Morel KD. Herpetic infection in epidermolysis bullosa. Pediatr Dermatol. Jul-Aug 2006;23(4):355-7. [Medline].
- Schober-Flores C. Epidermolysis bullosa: a nursing perspective. Dermatol Nurs. Aug 1999;11(4):243-8, 253-6. [Medline].
- Shaw DW, Fine JD, Piacquadio DJ, et al. Gastric outlet obstruction and epidermolysis bullosa. J Am Acad Dermatol. Feb 1997;36(2 Pt 2):304-10. [Medline].
- Skoven I, Drzewiecki KT. Congenital localized skin defect and epidermolysis bullosa hereditaria letalis. Acta Derm Venereol. 1979;59(6):533-7. [Medline].
- Smith LT. Ultrastructural findings in epidermolysis bullosa. Arch Dermatol. Dec 1993;129(12):1578-84. [Medline].
- Swinburne L, Kohler HG. Symmetrical congenital skin defects in sibs. Arch Dis Child. 1968;43:499.
- Teran Ac, Cobo BJ, Guijarro MG. Atrsia de piloro en un recien nacido con epidermolisis ampullosa. Bol Catedra Padiatr (Madrid). 1972;1647-78.
- Tong L, Hodgkins PR, Denyer J, et al. The eye in epidermolysis bullosa. Br J Ophthalmol. Mar 1999;83(3):323-6. [Medline].
- Uitto J, Christiano AM. Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J Clin Invest. Sep 1992;90(3):687-92. [Medline].
- Uitto J, Pulkkinen L. Molecular genetics of heritable blistering disorders. Arch Dermatol. Nov 2001;137(11):1458-61. [Medline].
- Uitto J, Richard G. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol. Jan-Feb 2005;23(1):33-40. [Medline].
- Vidal F, Aberdam D, Miquel C, et al. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet. Jun 1995;10(2):229-34. [Medline].
- Wojnarowska FT, Eady RA, Wells RS. Dystrophic epidermolysis bullosa presenting with congenital localized absence of skin: report of four cases. Br J Dermatol. Apr 1983;108(4):477-83. [Medline].
- Yan EG, Paris JJ, Ahluwalia J, Lane AT, Bruckner AL. Treatment decision-making for patients with the Herlitz subtype of junctional epidermolysis bullosa. J Perinatol. May 2007;27(5):307-11. [Medline].
- 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. Oct 2006;28(5):387-94. [Medline].
- Zelickson B, Matsumura K, Kist D, Epstein EH Jr, Bart BJ. Bart's syndrome. Ultrastructure and genetic linkage. Arch Dermatol. Jun 1995;131(6):663-8. [Medline].
Epidermolysis Bullosa excerpt Article Last Updated: Jun 13, 2007
|
