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

Yıl 2013, Cilt: 5 , 1 - 7, 12.08.2013

İffat Hassan Mohammad Keen

Öz

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.

Anahtar Kelimeler

Dystrophic epidermolysis, bullosa, genetic disorder

Kaynakça

• Pye RJ. Bullous eruptions. In: Champion RH, Burton IL, Ebling FJG. Textbook of Dermatology. 5th edition. Oxford : Blackwell Scientific Publication. 1991 : 1624-1636.
• 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
• 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.
• Mitsuhashi Y, Hashimoto I. Genetic abnormalities and clinical classification of epidermolysis bullosa. Arch Dermatol Res 2003; 295: 29–33.
• 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.
• Eady RAJ, McGrath JA, McMillan JR. Ultrastructural clues to genetic disorders of skin: the dermal–epidermal junction. J Invest Dermatol 1994; 103: 13S–8S.
• 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.
• 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.
• Fine J-D, Johnson LB, Weiner M et al. Pseudosyndactyly and musculoskeletal deformities in inherited epidermolysis bullosa (EB): experience of the National EB Registry, 1986–2002. J Hand Surg 2005; 30: 14–
• Gans LA. Eye lesions in epidermolysis bullosa. Arch Dermatol 1988; 124: 762–4.
• 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 2002; 19: 436–8.
• Eady RA. Epidermolysis bullosa: scientific advances and therapeutic challenges. J Dermatol 2001; 28: 638-40.
• Allman S, Haynes L, MacKinnon P, Atherton DJ. Nutrition in dystrophic epidermolysis bullosa. Pediatr Dermatol 1992; 9: 231-8.
• Terrill PJ, Mayou BJ, McKee P, Eady RAJ. The surgical treatment of epidermolysis bullosa. Br J Plast Surg 1992; 45: 426–34.
• McGrath JA, Schofi eld OMV, IshidaYamamoto A et al. Cultured keratinocyte allografts and wound healing in severe recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol 1993; 29: 407–19.
• Fine J-D. Skin bioequivalents and their role in the treatment of inherited epidermolysis bullosa. Arch Dermatol 2000; 136: 1259–60. Caldwell-Brown D, Stern RS, Lin AN, Carter DM. Lack of effi cacy of phenytoin in recessive dystrophic epidermolysis bullosa. N Engl J Med 1992; 327: 163–7.
• Michaelson JD, Schmidt JD, Dresden MH, Duncan C. Vitamin E treatment of epidermolysis bullosa. Arch Dermatol 1974; 109: 67–9.
• White JE. Minocycline for dystrophic epidermolysis bullosa. Lancet 1989; i: 166.
• Husz S, Olah J, Korom I et al. Cyclosporin for dystrophic epidermolysis bullosa. Lancet 1989; ii: 1393–4.
• Cooper TW, Tabas M, Bauer EA. Retinoic acid in recessive dystrophic epidermolysis bullosa. In: Saurat JH, ed. Retinoids: New Trends in Research and Therapy. New York: Karger, 1985: 219–24.
• Chen M, Kasahara N, Keene DR et al. Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa. Nat Genet 2002; 32: 670–5.
• Dunnill MG, Rodeck CH, Richards AJ, et al. Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa. J Med Genet 1995; 32: 749-50.
• Fassihi H, Eady RA, Mellerio JE, et al. Prenatal diagnosis for severe inherited skin disorders: 25 years' experience. Br J Dermatol 2006; 154: 106-13.