J Dent Oral Biol | Volume 2, Issue 15 | Case Report | Open Access

Dental Findings and Mutational Analysis of a Case with Ehlers-Danlos Syndrome

Sema S Hakki^1*, Dilek Aktas², Yasemin Alanay², Mustafa C Avunduk³ and Erdogan E Hakki⁴

¹Department of Periodontology, Selcuk University, Faculty of Dentistry, Konya, Turkey
²Department of Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey
³Department of Pathology, Selcuk University, Faculty of Medicine, Konya, Turkey
⁴Department of Biotechnology, Selcuk University, Faculty of Agriculture, Konya, Turkey

^*Correspondance to: Sema S Hakki 

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Abstract

Ehlers Danlos syndrome (EDS) is a rare hereditary disorder characterized by abnormalities of skin, joints and ligament of the connective tissue. Several gene mutations were reported in different forms of EDS. Twelve years old male was referred to us from Department of Genetics with EDS type I (classic type) diagnosis. The patient was first child of healthy non-consanguineous parents. According to medical history, his skin tears and bruises easily after minor trauma. Skin fragility and extensive scar formation, several widened atrophic scars all over his body especially in his face and legs and joint hypermobility in the fingers were observed in the case. Abnormal teeth root in mandibular anterior region and variations in pulp shape, pulp calcifications were noted radiographically. Histological examination demonstrated abnormalities in the structure and arrangement of collagen fibrils in extracellular matrix. Mutational analysis on a highly conserved region within exon 62 of COL5A1 gene demonstrated no substitution of cystein (TGC) by serine (TCC) in position 1,181 of the pro α1(V) collagen chain.

Keywords:

Classic ehlers-danlos syndrome; Dental; Mutation analysis; Collagen type I; Collagen type V

Citation:

Hakki SS, Aktas D, Alanay Y, Avunduk MC, Hakki EE. Dental Findings and Mutational Analysis of a Case with Ehlers-Danlos Syndrome. J Dent Oral Biol. 2017; 2(15): 1090.