Squamous-cell carcinoma in a female patient suffering from recessive dystrophic epidermolysis bullosa

Cover Page
  • Authors: Karamova A.E.1, Chikin V.V.1, Albanova V.I.1, Smolyannikova V.A.2, Nefedova M.A.1, Monchakovskaya E.S.1
  • Affiliations:
    1. State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation
    2. I.M. Sechenov First Moscow State Medical University
  • Issue: Vol 92, No 3 (2016)
  • Pages: 83-89
  • Section: CLINICAL CASES
  • URL: http://vestnikdv.ru/jour/article/view/243
  • DOI: https://doi.org/10.25208/0042-4609-2016-92-3-83-89

Abstract


The article describes a case of squamous-cell carcinoma in a female patient aged 30 suffering from a rare inherited disease -recessive dystrophic epidermolysis bullosa (RDEB). RDEB is characterized by a high risk of squamous cell carcinoma in young patients. The most frequent form is a highly differentiated form of cancer characterized by an aggressive course with the early development of metastases and fast progression, which is the most frequent cause of death in RDEB patients. The described case of squamous cell carcinoma in a young female RDEB patient emphasizes the role of early tumor diagnostics.

About the authors

A. E. Karamova

State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation

Author for correspondence.
Email: noemail@neicon.ru

Russian Federation

V. V. Chikin

State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation

Email: noemail@neicon.ru

Russian Federation

V. I. Albanova

State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation

Email: albanova@rambler.ru

Russian Federation

V. A. Smolyannikova

I.M. Sechenov First Moscow State Medical University

Email: noemail@neicon.ru

Russian Federation

M. A. Nefedova

State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation

Email: noemail@neicon.ru

Russian Federation

E. S. Monchakovskaya

State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation

Email: noemail@neicon.ru

Russian Federation

References

  1. Has C., Bruckner-Tuderman L. Molecular and diagnostic aspects of genetic skin fragility. J Dermatol Sci 2006; 44: 129-144.
  2. Soro L., Bartus C., Purcell S. Recessive dystrophic epidermolysis bullosa. A review of disease pathogenesis and update on future therapies. J Clin Aesthet Dermatol 2015; 8 (5): 41-46.
  3. Fine J.D., Bruckner-Tuderman L., Eady R.A. et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014; 70 (6): 1103-1126.
  4. Christiano A.M., Anhalt G., Gibbons S. et al. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics 1994; 21 (1): 160-168.
  5. Dang N., Murrell D.F. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 2008; 17 (7): 553-568.
  6. Fine J.D., Johnson L.B., Weiner M. et al. Pseudosyndactyly and musculoskeletal deformities in inherited epidermolysis bullosa (EB): experience of the National EB Registry, 1986-2002. J Hand Surg Br 2005; 30 (1): 14-22.
  7. Fine J.D., Johnson L.B., Weiner M., Suchindran C. Gastrointestinal complications of inherited epidermolysis bullosa: cumulative experience of the National EB Registry. J Pediatr Gastroenterol Nutr 2008; 46: 147-158.
  8. Бобко С.И., Альбанова В.И. Проблемы физического развития больных буллезным эпидермолизом. Рос журн кожных и венерич бол 2011; 5: 42-43
  9. Fine J.D. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010; 5: 12.
  10. Mallipeddi R. Epidermolysis bullosa and cancer. Clin Exp Dermatol 2002; 27 (8): 616-623.
  11. Kim M., Murrell D.F. Update on the pathogenesis of squamous cell carcinoma development in recessive dystrophic epidermolysis bullosa. Eur J Dermatol 2015; 25 (Suppl.1): 30-32.
  12. McGrath J.A., Ishida-Yamamoto A., O’Grady A. et al. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression. J Invest Dermatol 1993; 100 (4): 366-372.
  13. Fine J.D., Johnson L.B., 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.
  14. Kawasaki H., Sawamura D., Iwao F. et al. Squamous cell carcinoma developing in a 12-year-old boy with nonHallopeau-Siemens recessive dystrophic epidermolysis bullosa. Br J Dermatol 2003; 148: 1047-1050.
  15. Fine J.D., Lanschuetzer C.M. Epidermolysis bullosa and cancer. In: Fine J.D., Hintner H., editors. Life with epidermolysis bullosa: etiology, diagnosis, multidisciplinary care and therapy. 1st ed. Wien: Springer-Verlag 2009. 116-131.
  16. Mellerio J.E., Robertson S.J., Bernardis C. et al. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines. Br J Dermatol 2016; 174: 55-67.
  17. Дерматоонкология. Под ред. Г.А. Галил-Оглы, В.А. Молочкова, Ю.В. Сергеева. М: Медицина для всех 2005; 872
  18. Ганцев Ш.Х., Юсупов А.С. Плоскоклеточный рак кожи. Практическая онкология 2012; 13 (2): 80-91
  19. McGrath J.A., Schofield O.M., Mayou B.J. et al. Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases. J Cutan Pathol 1992; 19: 116-123.
  20. Fine J.D. Premature death in epidermolysis bullosa. In: Fine J.D., Hintner H., editors. Life with epidermolysis bullosa: etiology, diagnosis, multidisciplinary care and therapy. 1st ed. Wien: Springer-Verlag 2009: 197-203.

Statistics

Views

Abstract - 440

PDF (Russian) - 196

PlumX

Dimensions


Copyright (c)



This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies