Clinical, histological and radiological presentation of root agenesis in pseudoxanthoma elasticum

Year 2014, Volume: 4 Issue: 3, 193 - 199, 15.12.2014

Mehmet Oğuz Borahan , Ömer Birkan Ağralı Leyla Kuru Filiz Namdar Pekiner

Abstract

Objectives: Pseudoxanthoma elasticum (PXE) is a rare, genetic disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina and cardiovascular system. The ophthalmic and dermatologic expressions of PXE and vascular complications are heterogeneous. In addition to systemic disorders, a number of manifestations have been reported. The aim of this case report is to present, for the first time, root agenesis in a patient with PXE.

Case Report: A 22-year-old girl diagnosed with PXE was referred to the Faculty of Dentistry, Marmara University, with a chief complaint of malocclusion and unaesthetic appearance. In addition to clinical examination, the patient was imaged using panoramic radiography and cone-beam computed tomography, which revealed root agenesis. Treatment plan consisted of mechanical periodontal therapy and recall visits with short intervals.

Conclusion: Radiologic examination is useful and important for dental and mucosal abnormalities. In conclusion, this is the first report of a patient with root agenesis coexisting with PXE which should be taken into account by clinicians.

Keywords

Pseudoxanthoma elasticum, root agenesis, cone beam computed tomography

Pseudoksantoma elastikumda kök agenezisinin klinik, histolojik ve radyolojik olarak incelenmesi

Abstract

Amaç: Psödoksantoma elastikum (PXE) deri, retina ve kardiyovasküler sistemde elastik liflerin ilerleyen kalsifikasyon ve parçalanması ile karakterize, nadir görülen genetik bir hastalıktır. PXE ‘nin oftalmik ve dermatolojik belirtileri ve vasküler komplikasyonları heterojendir. Sistemik düzensizliklerin yanı sıra, bir dizi belirtiler bildirilmiştir. Bu olgu raporunun amacı PXE olan bir hastada görülen kök agenezisi sunmaktır.

Vaka Sunumu: PXE tanısı konmuş 22 yaşındaki bayan hasta maloklüzyonu ve estetik şikayet nedenleriyle Marmara Üniversitesi, Diş Hekimliği Fakültesi’ne başvurmuştur. Klinik muayeneye ek olarak, panoramik radyografi ve konik ışınlı bilgisayarlı tomografide kök agenezi görüntülenmiştir. Tedavi planını mekanik periodontal tedavi ve kısa aralıklarla klinik takibi oluşturmuştur.

Sonuç: Radyolojik muayene, dental ve mukozal anomaliler için yararlı ve önemlidir. Sonuç olarak, bu çalışma klinisyenler tarafından dikkate alınması gereken PXE ile birlite kök agenezisi görülen bir hastanın sunumudur.

Keywords

Psödoksantoma elastikum, kök agenezi, konik ışınlı bilgisayarlı tomografi

References

• Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. 3rd ed. Oxford: Oxford University Press; 1990.
• Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PT, Bergen AA. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Surv Ophthalmol. 2003; 48: 424-438.
• Miki K, Yuri T, Takeda N, Takehana K, Iwasaka T, Tsubura A. An autopsy case of pseudoxanthoma elasticum: histochemical characteristics. Med Mol Morphol. 2007; 40: 172-177.
• Viljoen D. Pseudoxanthoma elasticum (Groenblad-Strandberg syndrome). J Genet Med. 1988; 25: 488-490.
• Finger RP, Charbel Issa P, Ladewig MS, Götting C, Szliska C, Scholl HP et al. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol. 2009; 54: 272-285.
• Sayin MO, Atilla AO, Esenlik E, Ozen T, Karahan N. Oligodontia in pseudoxanthoma elasticum. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007; 103: e60-64.
• Morrier JJ, Romeas A, Lacan E, Farges JC. A clinical and histological study of dental defects in a 10-year-old girl with pseudoxanthoma elasticum and amelogenesis imperfecta. Int J Paediatr Dent. 2008; 18: 389-395.
• Laube S, Moss C. Pseudoxanthoma elasticum. Arch Dis Child. 2006; 90: 754–756.
• Moreira AP, Feijó FS, Neffá Pinto JM, Martinelli IL, Rochael MC. Pseudoxanthoma Elasticum. Dermatol Online J. 2009; 15: 7.
• Utani A, Tanioka M, Yamamoto Y, Taki R, Araki E, Tamura H, Miyachi Y. Relationship between the distribution of pseudoxanthoma elasticum skin and mucous membrane lesions and cardiovascular involvement. J Dermatol. 2010; 37: 130-136.
• Nozzi L, Grenier de Cardenal D, El Alamy F, Duyninh T, Martin L. Prevalence of involvement of the oral mucosa and periodontal tissue in pseudoxanthoma elasticum. Ann Dermatol Venereol. 2008; 135: 183-186.
• Pope FM. Autosomal dominant pseudoxanthoma elasticum. J Med Genet. 1974; 11: 152-157.
• Velázquez-Cayón RT, Torres-Lagares D, Yáñez-Vico RM, Cárabe- Fernández A, Benítez-Rodríguez J, Serrera-Figallo MA, Gutiérrez- Pérez JL. Dental impactions related to pseudoxanthoma elasticum. J Oral Maxillofac Surg. 2012; 70: e214-216.
• Lebwohl M, Neldner K, Pope FM, De Paepe A, Christiano AM, Boyd CD, Uitto J, McKusick VA. Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol. 1994; 30:103- 107.
• Sherer DW, Bercovitch L, Lebwohl M. Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J Am Acad Dermatol. 2001; 44: 534–537.
• Hacker SM, Ramos-Caro FA, Beers BB, Flowers FP. Juvenile pseudoxanthoma elasticum: recognition and management. Pediatr Dermatol. 1993; 10: 19-25.
• Galadari H, Lebwohl M. Pseudoxanthoma elasticum: Temporary treatment of chin folds and lines with injectable collagen. J Am Acad Dermatol. 2003; 49: 265-266.
• Miraglia E, Visconti B, Bruni C, Calvieri C, Guistini S. Pseudoxanthoma elasticum (PXE): 25 case reports and follow up. Prevent Res. 2012; 2: 254-260.
• Lebwohl M, Lebwohl E, Bercovitch L. Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum. J Am Acad Dermatol. 2003; 48: 620-622.
• Pyeritz RE, Weiss JL, Renie WA, Fine SL. Pseudoxanthoma elasticum and mitral-valve prolapse. N Engl J Med. 1982; 307: 1451-1452.
• Nadeau C, Kuperstein AS, Mupparapu M, Stoopler ET. Temporomandibular disorder in a patient with pseudoxanthoma elasticum: a case report and review. Spec Care Dentist. 2013; 33: 255- 259.