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Abstract

Congenital erythropoietic porphyria (CEP) is an extremely rare disorder involved in chronic porphyrias. One of the recommended evaluations to determine disease severity and needs of a person with CEP is dental assessment. Objective: To present a case of CEP and its oral rehabilitation. Case Report: A 32-year-old female patient was admitted to the clinic with hyperkeratinization, skin fragility, fissures, and wounds in her perioral region and hands. Intraoral gingival bleeding, mucogingival stress, and missing teeth were recorded. After medical consultation, phase I and II periodontal therapies were performed. The patient expressed satisfaction of the results of the procedures in terms of the parameters evaluated. The rare occurrence of the disease may delay the diagnosis. An unmet need still exists for multidisciplinary orientation of patients with CEP. Conclusion: Dentists should have and follow guidelines for treating patients with CEP.

References

1. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010;375:924–37.

2. Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias, in: Scriver CR, Beaudet AL, Sly WS, Valle D (Eds.), The Metabolic and Molecular Bases of Inherited Disease, 8th (ed), McGraw-Hill, New York (NY), 2014, pp. 2961–3062.

3. Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012;120:4496– 504.

4. Berry AA, Desnick RJ, Astrin KH, Shabbeer J, Lucky AW, et al. Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. Arch Dermatol. 2005;141:1575–9.

5. Braun-Falco O, Plewig G, Wolff HH, Burgdorf WHC. The Porphyrias, in: Dermatology, 2nd (ed), Springer, Berlin, Heidelberg, 2000, pp. 1309–27.

6. Takamura N, Kurihara K, Yamashita S, Kondo M. Need for measurement of porphyrins in teardrops in patients with congenital erythropoietic porphyria. Br J Ophthalmol. 2002;86:1188.

7. Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, et al. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. Br J Dermatol. 2012;167:901–13.

8. Fityan A, Fassihi H, Sarkany R. Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence. Clin Exp Dermatol. 2016;41:953–4.

9. Di Pierro E, Brancaleoni V, Granata F. Advances in understanding the pathogenesis of congenital erythropoietic porphyria. Br J Haematol. 2016;173:365–79.

10. Luo E, Liu H, Zhao Q, Shi B, Chen Q. Dentalcraniofacial manifestation and treatment of rare diseases. Int J Oral Sci. 2019;11:9.

11. Armitage GC. Development of a classification system for periodontal diseases and conditions. Ann Periodontol. 1999;4(1):1–6.

12. Freiman A, Borsuk D, Barankin B, Sperber GH, Krafchik B. Dental manifestations of dermatologic conditions. J Am Acad Dermatol. 2009;60:289–98.

13. Haining RG, Cowger ML, Shurtleff DB, Labbe RF. Congenital erythropoietic porphyria, I: case report, special studies and therapy. Am J Med. 1968;45:624–37.

14. Jensen NF, Fiddler DS, Striepe V. Anesthetic considerations in porphyrias. Anesth Analg. 1995;80:591–9.

15. Schneider-Yin X, Harms J, Minder EI. Porphyria in Switzerland, 15 years experience. Swiss Med Wkly. 2009;139:198–206.

16. Kooijman MMD, Brand HS. Oral aspects of porphyria. Int Dent J. 2005;55:61–6.

17. Brıtısh Assocıatıon Of Dermatologısts. Congenital erythropoietic porphyria, Patıent Informatıon Leaflet. Revıew Date March 2019. available in: https://www.skinhealthinfo.org.uk/condition/ congenital-erythropoietic-porphyria/

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