Research Article

Severe generalized recessive dystrophic epidermolysis bullosa (Hallopeau-Siemen's) - a case report

Volume: 5 Number: 0 August 12, 2013
EN

Severe generalized recessive dystrophic epidermolysis bullosa (Hallopeau-Siemen's) - a case report

Abstract

Dystrophic epidermolysis bullosa is a rare heterogenous group of genetic disorders that is clinically characterized by increased skin fragility, blister formation, followed by scarring of skin and mucus membranes, either spontaneously or after induction of minor trauma. It can either be inherited as an autosomal recessive or autosomal dominant form. We herein report a case of severe generalized recessive dystrophic epidermolysis bullosa in a 6 year old ethnic Kashmiri girl.

Keywords

References

  1. Pye RJ. Bullous eruptions. In: Champion RH, Burton IL, Ebling FJG. Textbook of Dermatology. 5th edition. Oxford : Blackwell Scientific Publication. 1991 : 1624-1636.
  2. Peter Marinkovich M, Bauer EA. Inherited epidermolysis bullosa. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick's dermatology in general medicine. 7th ed. New York: McGraw-Hill; 2008. pp. 505– 5
  3. Jaunzems AE, Woods AE, Staples A. Electron microscopy and morphometry enhances differentiation of epidermolysis bullosa subtypes. With normal values for 24 parameters in skin. Arch Dermatol Res 1997; 289: 631–639.
  4. Mitsuhashi Y, Hashimoto I. Genetic abnormalities and clinical classification of epidermolysis bullosa. Arch Dermatol Res 2003; 295: 29–33.
  5. Fine J-D, Eady RAJ, Bauer EA et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and classification. J Am Acad Derm 2008; 58: 931–50.
  6. Eady RAJ, McGrath JA, McMillan JR. Ultrastructural clues to genetic disorders of skin: the dermal–epidermal junction. J Invest Dermatol 1994; 103: 13S–8S.
  7. Tidman MJ, Eady RAJ. Evaluation of anchoring fibrils and other components of the dermal–epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique. J Invest Dermatol 1985; 84: 374–7.
  8. Heagerty AHM, Kennedy AR, Leigh IM et al. Identification of an epidermal basement membrane defect in recessive dystrophic epidermolysis bullosa by LH7.2 monoclonal antibody: use in diagnosis. Br J Dermatol 1986; 115: 125–31.

Details

Primary Language

English

Subjects

Clinical Sciences

Journal Section

Research Article

Authors

Mohammad Keen This is me

Publication Date

August 12, 2013

Submission Date

June 26, 2012

Acceptance Date

-

Published in Issue

Year 1970 Volume: 5 Number: 0

APA
Hassan, İ., & Keen, M. (2013). Severe generalized recessive dystrophic epidermolysis bullosa (Hallopeau-Siemen’s) - a case report. Journal of Pediatric Sciences, 5, 1-7. https://izlik.org/JA77TR86RP
AMA
1.Hassan İ, Keen M. Severe generalized recessive dystrophic epidermolysis bullosa (Hallopeau-Siemen’s) - a case report. Journal of Pediatric Sciences. 2013;5:1-7. https://izlik.org/JA77TR86RP
Chicago
Hassan, İffat, and Mohammad Keen. 2013. “Severe Generalized Recessive Dystrophic Epidermolysis Bullosa (Hallopeau-Siemen’s) - a Case Report”. Journal of Pediatric Sciences 5 (February): 1-7. https://izlik.org/JA77TR86RP.
EndNote
Hassan İ, Keen M (February 1, 2013) Severe generalized recessive dystrophic epidermolysis bullosa (Hallopeau-Siemen’s) - a case report. Journal of Pediatric Sciences 5 1–7.
IEEE
[1]İ. Hassan and M. Keen, “Severe generalized recessive dystrophic epidermolysis bullosa (Hallopeau-Siemen’s) - a case report”, Journal of Pediatric Sciences, vol. 5, pp. 1–7, Feb. 2013, [Online]. Available: https://izlik.org/JA77TR86RP
ISNAD
Hassan, İffat - Keen, Mohammad. “Severe Generalized Recessive Dystrophic Epidermolysis Bullosa (Hallopeau-Siemen’s) - a Case Report”. Journal of Pediatric Sciences 5 (February 1, 2013): 1-7. https://izlik.org/JA77TR86RP.
JAMA
1.Hassan İ, Keen M. Severe generalized recessive dystrophic epidermolysis bullosa (Hallopeau-Siemen’s) - a case report. Journal of Pediatric Sciences. 2013;5:1–7.
MLA
Hassan, İffat, and Mohammad Keen. “Severe Generalized Recessive Dystrophic Epidermolysis Bullosa (Hallopeau-Siemen’s) - a Case Report”. Journal of Pediatric Sciences, vol. 5, Feb. 2013, pp. 1-7, https://izlik.org/JA77TR86RP.
Vancouver
1.İffat Hassan, Mohammad Keen. Severe generalized recessive dystrophic epidermolysis bullosa (Hallopeau-Siemen’s) - a case report. Journal of Pediatric Sciences [Internet]. 2013 Feb. 1;5:1-7. Available from: https://izlik.org/JA77TR86RP