Squamous-cell carcinoma in a female patient suffering from recessive dystrophic epidermolysis bullosa
- 作者: Karamova A.E.1, Chikin V.V.1, Albanova V.I.1, Smolyannikova V.A.2, Nefedova M.A.1, Monchakovskaya E.S.1
-
隶属关系:
- State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation
- I.M. Sechenov First Moscow State Medical University
- 期: 卷 92, 编号 3 (2016)
- 页面: 83-89
- 栏目: CLINICAL CASE REPORTS
- URL: https://bakhtiniada.ru/0042-4609/article/view/116778
- DOI: https://doi.org/10.25208/0042-4609-2016-92-3-83-89
- ID: 116778
如何引用文章
全文:
详细
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.
作者简介
A. Karamova
State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation
编辑信件的主要联系方式.
Email: noemail@neicon.ru
俄罗斯联邦
V. Chikin
State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation
Email: noemail@neicon.ru
俄罗斯联邦
V. Albanova
State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation
Email: albanova@rambler.ru
俄罗斯联邦
V. Smolyannikova
I.M. Sechenov First Moscow State Medical University
Email: noemail@neicon.ru
俄罗斯联邦
M. Nefedova
State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation
Email: noemail@neicon.ru
俄罗斯联邦
E. Monchakovskaya
State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation
Email: noemail@neicon.ru
俄罗斯联邦
参考
- Has C., Bruckner-Tuderman L. Molecular and diagnostic aspects of genetic skin fragility. J Dermatol Sci 2006; 44: 129-144.
- 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.
- 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.
- 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.
- Dang N., Murrell D.F. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 2008; 17 (7): 553-568.
- 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.
- 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.
- Бобко С.И., Альбанова В.И. Проблемы физического развития больных буллезным эпидермолизом. Рос журн кожных и венерич бол 2011; 5: 42-43
- Fine J.D. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010; 5: 12.
- Mallipeddi R. Epidermolysis bullosa and cancer. Clin Exp Dermatol 2002; 27 (8): 616-623.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Дерматоонкология. Под ред. Г.А. Галил-Оглы, В.А. Молочкова, Ю.В. Сергеева. М: Медицина для всех 2005; 872
- Ганцев Ш.Х., Юсупов А.С. Плоскоклеточный рак кожи. Практическая онкология 2012; 13 (2): 80-91
- 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.
- 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.
补充文件
