Role of Oral Lesions in Diagnosing Generalised Recessive Dystrophic Epidermolysis Bullosa- A Rare Case Report

  • Abhishek Singh Nayyar Associate Professor, Department of Oral Medicine and Radiology, Saraswati-Dhanwantari Dental College and Hospital and Post-Graduate Research Institute, Parbhani, Maharashtra,
  • Amit D. Ramchandani Saraswati-Dhanwantari Dental College and Hospital and Post-Graduate Research Institute, Parbhani, Maharashtra
  • Aarti Singh Maulana Azad Dental College and Hospital, New Delhi
Keywords: Epidermolysis bullosa, genetically determined, recessive dystrophic subtype

Abstract

Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined, vesiculo-bullous disorders char­acterized by blister formation in response to mechanical trauma. Three major subgroups, simplex, junctional, and dystrophic EB, contain more than 20 genetically and clini­cally distinct subtypes. In the present case, we described a patient diagnosed with a milder variant of generalised recessive dystrophic epidermolysis bullosa with specific oral and cutaneous lesions, which was previously named as non-Hallopeau-Siemans subtype.

Downloads

Download data is not yet available.

References

Serrano-Martínez MC, Bagán JV, Silvestre FJ, et al. Oral lesions in recessive Dystrophic Epidermolysis Bullosa. Oral Dis 2003;9:264-268.

Leena Bruckner-Tuderman. Dystrophic Epidermolysis Bullosa: Pathogenesis and clinical features. Dermatol Clin 2010;28:107-114.

Fine JD, Johnson LB, Suchindran C, et al. Eye involvement in inherited epidermolysis bullosa (EB): Experience of the National EB Registry. Am J Ophthalmol 2004;138:254-262.

Fine JD, Johnson LB, Weiner M, et al. Gastrointestinal complications of inherited epidermolysis bullosa: Cumulative experience of the National EB Registry. J Pediatr Gastroenterol Nutr 2008;46:147-158.

Fine JD, 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 (British and European Volume) 2005;30:14-22.

Alper JC, Baden HP, Goldsmith LA. Kindler's syndrome. Arch Dermatol 1978;114:457.

Fine JD, Eady RAJ, Bauer JA, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008;58:931-950.

Shimizu H, Sato M, Ban M, et al. Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. Arch Dermatol 1997;133:1111-1117.

Hashimoto I, Schnyder UW, Anton-Lamprecht I, et al. Ultrastructural studies in epider¬molysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type). Arch Dermatol Res 1976;256:137-150.

Kahofer P, Bruckner-Tuderman L, Metze D, et al. Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. Pediatr Dermatol 2003;20:243-248.

Wojnarowska FT, Eady RA, Wells RS. Dystrophic epidermolysis bullosa presenting with congenital localized absence of skin: Report of four cases. Br J Dermatol 1983;108:477-483.

Sweet SP, Ballsdon AE, Harris JC, et al. Impaired secretory immunity in dystrophic epidermolysis bullosa. Oral Microbiol Immunol 1999;14:316-320.

Fine JD, Johnson LB, Weiner M, et al. Inherited epidermolysis bullosa (EB) and the risk of death from renal disease: Experience of the National EB Registry. Am J Kidney Dis 2004;44:651-660.

Wright JT, Johnson LB, Fine JD. Developmental defects of enamel in humans with hereditary epidermolysis bullosa. Arch Oral Biol 1993;38:945-955.

Fine JD, Hall M, Weiner M, et al. The risk of cardiomyopathy in inherited epidermolysis bullosa. Br J Dermatol 2008;159:677-682.

Fine JD, Johnson LB, Weiner M, et al. Inherited epidermolysis bullosa (EB) and the risk of life-threatening skin-derived cancers: Experience of the National EB Registry,1986-2006. J Am Acad Dermatol 2009;60:203-211.

Fine JD, Tamura T, Johnson L. Blood vitamin and trace metal levels in epidermolysis bullosa. Arch Dermatol 1989;125:374-379.

Briggaman RA. Recessive dystrophic epidermolysis bullosa: A clinical overview. In: Epidermolysis Bullosa. Basic and Clinical Aspects. Lin AN, Carter DM (eds.). Springler-Verlag, New York, 1992: 135-151.

Wright JT, Fine JD, Johnson LB, et al. Oral in¬volvement of recessive dystrophic epidermolysis bullosa inversa. Am J Med Genet 1993;47:1184-1188.

Gache Y, Pin D, Gagnoux-Palacios L, et al. Correction of dog dystrophic epider¬molysis bullosa by transplantation of genetically modified epidermal autografts. J Invest Dermatol 2011;12:312-315.

Published
2015-04-30
How to Cite
1.
Nayyar A, Ramchandani A, Singh A. Role of Oral Lesions in Diagnosing Generalised Recessive Dystrophic Epidermolysis Bullosa- A Rare Case Report. AMS [Internet]. 30Apr.2015 [cited 14Nov.2024];2(4):79-1. Available from: https://asdpub.com/index.php/ams/article/view/170
Section
Case Reports

Most read articles by the same author(s)

Obs.: This plugin requires at least one statistics/report plugin to be enabled. If your statistics plugins provide more than one metric then please also select a main metric on the admin's site settings page and/or on the journal manager's settings pages.