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Kindler syndrome - a rare type of hereditary epidermolysis bullosa
- Authors: Albanova V.I.1, Smolyannikova V.A.1,2, Golchenko V.A.1
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Affiliations:
- State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation
- І.М. Sechenov First Moscow State Medical University
- Issue: Vol 91, No 4 (2015)
- Pages: 95-104
- Section: CLINICAL CASE REPORTS
- Submitted: 24.08.2017
- Published: 24.08.2015
- URL: https://vestnikdv.ru/jour/article/view/167
- DOI: https://doi.org/10.25208/0042-4609-2015-91-4-95-104
- ID: 167
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Abstract
The Kindler syndrome is one of the types of hereditary epidermolysis bullosa with its onset related to mutations of the KIND1 gene. The authors describe a case of a family with three members suffering from this rare disease. All of these patients have typical clinical manifestations of the Kindler syndrome such as the formation of blisters on the skin and mucous membranes right after the birth, scarring with the formation of contractures, pseudosyndactyly, microstomia and ankyloglossia, progressive poikiloderma, photosensibility, affections of the gastrointestinal tract - dysphagia, esophagostenosis, stool disorders, dental pathology, phimosis vaginalis in women.
About the authors
V. I. Albanova
State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation
Author for correspondence.
Email: albanova@rambler.ru
Россия
V. A. Smolyannikova
State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation; І.М. Sechenov First Moscow State Medical University
Email: noemail@neicon.ru
Россия
V. A. Golchenko
State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation
Email: noemail@neicon.ru
Россия
References
- Lai-Cheong J.E., McGrath J.A. Kindler syndrome. Dermatol Clin 2010; 28 (1): 119-124.
- Lai-Cheong J.E., McGrath J.A. What is Kindler syndrome? Skinmed 2011; 9 (3): 145-146.
- Lai-Cheong J.E., Tanaka A., Hawche G. Kindler syndrome: a focal adhesion genodermatosis. Br J Dermatol 2008;160: 233-242.
- Has C. Kindler syndrome. A new bullous dermatosis. Hautarzt 2009; 60 (8): 622-626.
- Kotrulja L., Ozanić-Bulić S., Sjerobabski-Masnec I. et al. Photosensitivity skin disorders in childhood. Coll Antropol 2010; 34 (Suppl 2): 263-266.
- Suman N., Kaur S., Kaur S., Sarangal V. Kindler's syndrome: A rare case report. Contemp Clin Dent 2014; 5 (2): 217-220.
- Sadler E., Klausegger A., Muss W. et al. Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. Arch Dermatol 2006; 142: 1619-1624.
- Siegel H.D. Ashton G.H., Penagos H.G. et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003; 73 (1): 174-187.
- Larjava H., Plow E.F., Wu C. Kindlins: essential regulators of integrin signalling and cell-matrix adhesion. EMBO Rep 2008; 9: 1203-1208.
- Meves A., Stremmel C., Gottschalk K., Fässler R. The kindlin protein family: new members to the club of focal adhesion proteins. Trends Cell Biol 2009; 19 (10): 504-513.
- Lai-Cheong J.E., Parsons M., McGrath J.A. The role of kindlins in cell biology and relevance to human disease. Int J Biochem Cell Biol 2010; 42 (5): 595-603.
- Piccinni E., Di Zenzo G., Maurelli R. et al. Induction of senescence pathways in Kindler syndrome primary keratinocytes. Br J Dermatol 201; 168 (5): 1019-1026.
- H.Y., Esser P., Heinemann A. et al. Kindlin-1 and -2 Have Overlapping functions in epithelial cells. Am J Pathol 2011; 17 (3): 975-982.
- Lai-Cheong J.E., Ussar S., Arita K. et al. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. J Invest Dermatol 2008; 128 (9): 2156-2165.
- Fischer I.A., Kazandjieva J., Vassileva S., Dourmishev A. Kindler syndrome: a case report and proposal for clinical diagnostic criteria. Acta Dermatovenerol Alp Pannonica Adriat 2005; 14 (2): 61-67.
- Yazdanfar A., Hashemi B. Kindler syndrome: report of three cases in a family and a brief review. Int J Dermatol 2009; 48 (2): 145-149.
- Anwar M.I., Rashid A., Ghafoor R. et al. Kindler's syndrome: a report of five cases in a family. J Coll Physicians Surg Pak 2014; 24 (10): 763-765.
- Horn H.M., Tidman M.J. The clinical spectrum of dystrophic epidermolysis bullosa. Br J Dermatol 2002; 146 (2): 267-274.
- Ouragini H., Cherif F., Kassar S. et al. Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family. J Dermatol Sci 2009; 54 (2): 114-120.
- Azrak B., Kaevel K., Hofmann L. et al. Dystrophic epidermolysis bullosa: oral findings and problems. Spec Care Dentist 2006; 26 (3): 111-115.
- Krishna C.V., Parmar N.V., Has C. Kindler syndrome with severe mucosal involvement in childhood. Clin Exp Dermatol 2014; 39 (3): 340-343.
- Larizza L., Roversi G., Volpi L. Rothmund-Thomson syndrome. Orphanet J Rare Dis 2010; 29; 5: 2.
- Manavi S., Mahajan V.K. Rothmund-Thomson syndrome. Indian Dermatol Online J 2014; 5 (4): 518-519.
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СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).