back to 2008, vol. 14, b. 1

Journal of IMAB - Annual Proceeding (Scientific Papers)
Publisher: Peytchinski, Gospodin Iliev
ISSN: 1312 773X (Online)
Issue: 2008, vol. 14, book 1
Subject Collection: Medicine
Page: 59-62
DOI: 10.5272/jimab.14-1-2010.59
Online date: October 07, 2008

J of IMAB 2008; 14(1):59-62
EPIDERMOLYSIS BULLOSA SIMPLEX DOWLING-MEARA - A case report
Ivelina Yordanova1, Snejina Vassileva2, Zdravka Demerjieva2, Dimitar Gospodinov1, Nikolai Tsankov2
1) Department of Dermatology and Venereology, Medical University – Pleven, Bulgaria;
2) Department of Dermatology and Venereology, Medical University – Sofia, Bulgaria


ABSTRACT:
A case with Epidermolysis bullosa simplex Dowling-Meara is presented. It concerns a 20 days breast-fed girl with severe blistering and erosions on the skin formed at birth after minor mechanical trauma. There are no other affected relatives. A medical examination showed normal somatic and visceral status. There were multiple herpetiform grouped bullous and erosive lesions on the face, trunk, upper and lower limbs, palms and soles. The mucous membranes were not affected. There was also a marked nail dystrophy on the fingers and toenails. The electron microscopic examination revealed cytolysis of the basal keratinocytes with clumping of the perinuclear tonofilaments in the lesional skin. Because of the clinical features and the results of the electron microscopic examination of the skin the case here reported should be considered as an Epidermolysis bullosa simplex Dowling-Meara. The child is followed up to the age of three. The course of the disease was benign with a decreased formation of blisters and erosions. The marked nail dystrophy was persistent. There was palmar and plantar hyperkeratosis. The child’s growth, neural and psychic development wsas normal. The early diagnosis of the bullous epidermolysis is helpful in the prognostic assessment of the disease and in the medical and genetic advice for the parents.

Key words: Epidermolysis bullosa simplex Dowling-Meara, tonofilament clumps, electron microscopy.

- Download FULL TEXT (PDF - 202 KB)
Please cite this article as: Yordanova I, Vassileva S, Demerjieva Z, Gospodinov D, Tsankov N. Epidermolysis Bullosa Simplex Dowling-Meara - A case report. J of IMAB 2008; 14(1):59-62. DOI: 10.5272/jimab.14-1-2010.59

REFERENCES:
1. Anton-Lamprecht I. Keratin clumping in Epidermolysis bullosa, Dowling-Meara type. Br. J. Dermatol. 1996 Jan;134(1):184-185,. [PubMed]
2. Anton-Lamprecht I, Schnyder U.W. - Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis. Dermatologica. 1982 Apr;164(4),221-235,. [PubMed]
3. Atherton D.J. Epidermolysis bullosa. In Textbook of Pediatric Dermatology. ed. by Harper J, Oranje A., Prose N. Blackwell Science, Berlin, Germany, 2000 Vol.2: pp.1075-1099.
4. Bergman R. Immunohistopathologic diagnosis of Epidermolysis bullosa. Am. J. Dermatopathol. 1999 Apr;21(2):185-192,. [PubMed]
5. Bolte C., Gonzales S. Rapid diagnosis of major variants of congenital epidermolysis bullosa using a monoclonal antibody against collagen type IV. Am. J. Dermatopathol. 1995 Dec;17(6), 580-583. [PubMed
6. Cummins R.E., Klingberg S., Wesley J. Rogers M, Zhao Y, Murrell DF. Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.  J. Invest. Dermatol. 2001 Nov;117(5):1103–1107. doi:10.1046/j.0022-202x.2001.01508.x CrossRef] [PubMed]
7. Fine J-D, Eady R.A.J., Bauer E.A. Briggaman RA, Bruckner-Tuderman L, Christiano A, et al. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J. Am. Acad.  Dermatol. 2000 Jun;42(6)1051 – 1066. doi:10.1016/S0190-9622(00)90302-5  CrossRef] [PubMed]
8. Frangu M., Gedde-Dahl T. Jr., Verder H. [Epidermolysis bullosa simplex Dowling-Meara]. Ugeskr. Laeger. 2006 168(48), 4222-24. (in Danish) [PubMed]
9. Furumura M., Imayama S., Hori Y. Three neonatal cases of epidermolysis bullosa herpetiformis (Dowling-Meara type) with severe erosive skin lesions. J. Am. Acad. Dermatol. 1993 May;28(5 Pt2):859-861. [PubMed]
10. Hacham-Zadeh S., Rappersberger K., Livshin R., Konrad K. Epidermolysis bullosa herpetiformis Dowling-Meara in a large family. J. Am. Acad. Dermatol. 1988 Apr;18(4 Pt1):702-706. [PubMed]
11. Horn H., Priestley G., Eady R., Tidman M. The prevalence of epidermolysis bullosa in Scotland. Br. J.  Dermatol. 1997 Apr;136(4)560-564. [PubMed]
12. Inaba Y, Kitamura K, Ogawa H. Manabe M, Sasai Y. [A study on the prevalance of epidermolysis bullosa in Japan]. Nippon Hifuka Gakkai Zashi. 1989 99, 1021-1026. (in Japanese) [PubMed]
13. Ishida-Yamamoto A., McGrath J.A., Chapman S.J. Leigh IM, Lane EB, Eady RA. - Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. J Invest Dermatol. 1991 Dec;97(6):959-968. [PubMed]
14. Jacobzone C., Conan-Charlet V., Plantin-Eon I. Viseux V, Leroy JP, Plantin P. [Trumpet nail deformity during the course of Dowling-Meara type epidermolysis bullosa simplex. A report of two cases]. Ann Dermatol Venereol. 2002 Apr;129(4 Pt 1):424-427. [in French] [PubMed]
15. Kemp M. W., Klingberg S., Lloyd L. Molloy TJ, Marr P, Wang Y. et al. A novel deletion mutation in keratin 5 causing the removal of 5 amino acids and elevated mutant mRNA levels in Dowling–Meara epidermolysis bullosa simplex. J Invest Dermatol. 2005 May;124(5):1083–1085. doi:10.1111/j.0022-202X.2005.23739.x CrossRef] [PubMed]

back to Online Journal