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Revista de Chimie (Rev. Chim.), Year 2019, Volume 70, Issue 12, 4201-4206

https://doi.org/10.37358/RC.19.12.7732

Dalia Dop, Ileana Puiu, Cristina Elena Singer, Simona Ianosi, Catalin Plesea Condratovici, Sorin Berbece, Carmen Elena Niculescu

The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome

Abstract:

Kindler syndrome is a rare autosomal recessive genodermatosis characterized by particular fragility of the skin and mucosa, manifesting in the appearance of bullae in minor traumas, photosensitivity, diffuse cutaneous atrophy and progressive poikiloderma. It is caused by mutations in the FERMT1 gene encoding kindlin-1. We present the case of a 12-year-old girl diagnosed with Kindler syndrome showing the classical clinical features affecting the skin, in addition to nail involvement, gingivitis, periodontitis, growth retardation, mental retardation, esophageal and anal stenosis. The histopathological examination of a cutaneous biopsy revealed the presence specific features of Kindler syndrome.
Keywords:
Kindler syndrome; photosensitivity; esophageal and anal stenosis; skin biopsy

Issue: 2019, Volume 70, Issue 12
Pages: 4201-4206
Publication date: 20/01/2020
https://doi.org/10.37358/RC.19.12.7732
download pdf   Download Pdf Article
Creative Commons License
This article is published under the Creative Commons Attribution 4.0 International License
Citation Styles
Cite this article as:
DOP, D., PUIU, I., SINGER, C.E., IANOSI, S., CONDRATOVICI, C.P., BERBECE, S., NICULESCU, C.E., The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome, Rev. Chim., 70(12), 2019, 4201-4206.

Vancouver
Dop D, Puiu I, Singer CE, Ianosi S, Condratovici CP, Berbece S, Niculescu CE. The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome. Rev. Chim.[internet]. 2019 Dec;70(12):4201-4206. Available from: https://doi.org/10.37358/RC.19.12.7732


APA 6th edition
Dop, D., Puiu, I., Singer, C.E., Ianosi, S., Condratovici, C.P., Berbece, S. & Niculescu, C.E. (2019). The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome. Revista de Chimie, 70(12), 4201-4206. https://doi.org/10.37358/RC.19.12.7732


Harvard
Dop, D., Puiu, I., Singer, C.E., Ianosi, S., Condratovici, C.P., Berbece, S., Niculescu, C.E. (2019). 'The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome', Revista de Chimie, 70(12), pp. 4201-4206. https://doi.org/10.37358/RC.19.12.7732


IEEE
D. Dop, I. Puiu, C.E. Singer, S. Ianosi, C.P. Condratovici, S. Berbece, C.E. Niculescu, "The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome". Revista de Chimie, vol. 70, no. 12, pp. 4201-4206, 2019. [online]. https://doi.org/10.37358/RC.19.12.7732


Text
Dalia Dop, Ileana Puiu, Cristina Elena Singer, Simona Ianosi, Catalin Plesea Condratovici, Sorin Berbece, Carmen Elena Niculescu,
The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome,
Revista de Chimie,
Volume 70, Issue 12,
2019,
Pages 4201-4206,
ISSN 2668-8212,
https://doi.org/10.37358/RC.19.12.7732.
(https://revistadechimie.ro/Articles.asp?ID=7732)
Keywords: Kindler syndrome; photosensitivity; esophageal and anal stenosis; skin biopsy


RIS
TY - JOUR
T1 - The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome
A1 - Dop, Dalia
A2 - Puiu, Ileana
A3 - Singer, Cristina Elena
A4 - Ianosi, Simona
A5 - Condratovici, Catalin Plesea
A6 - Berbece, Sorin
A7 - Niculescu, Carmen Elena
JF - Revista de Chimie
JO - Rev. Chim.
PB - Revista de Chimie SRL
SN - 2668-8212
Y1 - 2019
VL - 70
IS - 12
SP - 4201
EP - 4206
UR - https://doi.org/10.37358/RC.19.12.7732
KW - Kindler syndrome
KW - photosensitivity
KW - esophageal and anal stenosis
KW - skin biopsy
ER -


BibTex
@article{RevCh2019P4201,
author = {Dop Dalia and Puiu Ileana and Singer Cristina Elena and Ianosi Simona and Condratovici Catalin Plesea and Berbece Sorin and Niculescu Carmen Elena},
title = {The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome},
journal = {Revista de Chimie},
volume = {70},
number = {12},
pages = {4201-4206},
year = {2019},
issn = {2668-8212},
doi = {https://doi.org/10.37358/RC.19.12.7732},
url = {https://revistadechimie.ro/Articles.asp?ID=7732}
}
 
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