Fatma GÜLER DÖNMEZ, Filiz Mediha NAMDAR PEKİNER, Ayşe Nur SADIKOĞLU

Xeroderma Pigmentosum: Case Report

Aim Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. In affected individuals, exposure to sunlight often causes dry skin (xeroderma) and changes in skin coloring (pigmentation). The aim of this report is to present a case of xeroderma pigmentosum in a female patient. Case Report A 33-year-old female patient was referred to Marmara University, Faculty of Dentistry Oral Diagnosis Clinic. A 33-year-old female patient was admitted to Marmara University Faculty of Dentistry Oral Diagnosis Clinic with the complaint of pain. All systemic findings of the syndrome were observed. In the intraoral examination, no findings were found in the oral mucosa. Discussion People with xeroderma pigmentosum have a greatly increased risk of developing skin cancer. Without sun protection, about half of children with this condition develop their first skin cancer by age 10. Most people with xeroderma pigmentosum develop multiple skin cancers during their lifetime. These cancers occur most often on the face, lips, and eyelids. Cancer can also develop on the scalp, in the eyes, and on the tip of the tongue. Conclusion Patients should be kept under control because of squamous cell carcinoma that can be observed in the oral mucosa.

Keywords:

Oral cancer, Oral diagnosis Oral mucosa, Squamous cell carcinoma, Xeroderma pigmentosum,

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Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987: 123: 241–250.
Brambullo T, Colonna MR ,Vindigni V,et al. Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated—A Systematic Review. BioMed Research International Volume 2022, Article ID 8549532, 12 pages.
Kaloga M, Diousse P, Diatta BA, Bammo M, Kourouma S, Diabate A, Gueye N, Dione H, Diallo M, Diop BM. Squamous cell carcinoma in African children with xeroderma pigmentosum: three case reports. Case Rep Dermatol 2016;8:311-318.
Beogo R, Andonaba JB, Bouletreau P, Traore Sawadogo H, Traore A. Xeroderma pigmentosum revealed by multiple squamous cell carcinoma of the face in a child. Rev Stomatol Maxillofacial Surg 2012;113:50-52.
Bradford PT, Goldstein AM, Tamura D et al. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet 2011; 48:168–176.
Robbins JH.Xeroderma pigmentosum,” Annals of Internal Medicine, 1974;80(2):221–248.
Kleijer WJ, V. Laugel V, M. Berneburg et al. Incidence of DNA repair deficiency disorders in Western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy,” Cockayne Syndrome and Trichothiodystrophy. DNA Repair (Amst).2008; 7(5):744–750.
Hirai Y, Kodama Y, Moriwaki S et al. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. Mutation Research.2006; 601(1-2):171–178.
Zghal M, El-Fekih N, Fazaa B,et al. Xeroderma pigmentosum. cutaneous, ocular, and neurologic abnormalities in 49 Tunisian cases. La Tunisie Médicale.2005; 83(12):760–763.
Zebian A, Shaito A, Mazurier F, Rezvani HR, Zibara K. XPC beyond nucleotide excision repair and skin cancers. Mutat Res Rev Mutat Res. 2019 Oct-Dec;782:108286.
Mareddy S, Reddy J, Babu S, Balan P.Xeroderma pigmentosum: man deprived of his right to light. The Scientific World Journal. 2013 Dec 29;2013:534752.
Ambur AB, Nyckowski TA. Xeroderma pigmentosum presenting in two siblings from Uganda. J Osteopath Med 2022;122(9):487-488.
Hebra F, Kaposi M. On Diseases of the skin including exanthemata. New Sydenham Society,1874; 61: 252–258.
DiGiovanna JJ, Kraemer KH. Shining a light on XP. J Invest Dermatol.2012; 132.785–796.
Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum.Orphanet Journal of Rare Diseases.2011; 6(1),article 70.
Bradford PT, Goldstein AM, Tamura D et al. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet.2011; 48 (3):168–176.
Hasan S, Khan MA. Xeroderma pigmentosum with desquamative gingivitis a rare case report and detailed review of literature journal of cosmetics. Dermatological Sciences and Applications.2011; 1:164–170.
Mahindra P, DiGiovanna JJ, D. Tamura D et al.Skin cancers, blindness, and anterior tongue mass in African brothers. J Am Acad Dermatol.2008; 59(5):881–886.
Neville BW, Damm DD, Allen CM et al. Dermatologic diseases in Oral and Maxillofacial Pathology. Saunders Elsevier, St. Louis, Mo, USA, 3rd edition,747-748, 2009.
Cardoso CL, Fernandes LM, Rocha JF et al. Xeroderma Pigmentosum—a case report with oral implications. J Prev Med Hyg.2012:4(4): e248–e251.
Saawarn N, Shashikanth M, Saawarn S, Jirge V, Chaitanya N, Pinakapani R. Lycopene in the management of oral lichen planus: a placebo-controlled study. Indian J Dent Res.2011;22(5):639–643.