Xeroderma pigmentosum and its dental implications

ABSTRACT

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet (UV) radiation and carcinogenic agents. Important clinical features are: Intense cutaneous photosensitivity, xerosis, poikiloderma, actinic keratosis, acute burning under minimal sun exposure, erythemas, hyperpigmented lentiginous macules, and malignant lesions in sun-exposed areas, including basocellular carcinoma, squamous cell carcinoma, and melanoma. There is a great involvement of many parts of the body, especially head and neck. Oral implications such as severe oral pain and mouth opening limitation were present due to perioral scars. The disorder is associated more commonly in populations where marriage of close blood relatives is common. Treatment of the disorder includes avoidance of UV radiation, topical application of 5-fluorouracil to treat actinic keratoses, and regular evaluation by an ophthalmologist, dermatologist, and neurologist. Genetic counseling is important aspects as an increased incidence of consanguineous marriages have been reported with this disorder. In addition, this paper discuss some important aspects concerning the role of the dental professional management of this entity, since XP patients require constant dental care and follow-up in order to control the occurrence of new lesions on the lips or inside oral cavity.

Key words:

Actinic cheilitis - dental treatment - oral genoderamtosis - xeroderma pigmentosum

• REFERENCES

• 1 Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987; 123: 241-50
• 2 Walter JB, Israel MS. Physical carcinogenic agent. General Pathology. 6th ed.. Churchill Livingstone; 1987: 52-56
• 3 Kraemer KH, Lee MM, Scotto J. DNA repair protects against cutaneous and internal neoplasia: Evidence from xeroderma pigmentosum. Carcinogenesis 1984; 5: 511-4
• 4 Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG. Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 1974; 80: 221-48
• 5 English JS, Swerdlow AJ. The risk of malignant melanoma, internal malignancy and mortality in xeroderma pigmentosum patients. Br J Dermatol 1987; 117: 457-61
• 6 Hedera P, Fink JK. Xeroderma pigmentosum. eMedicine. Available from: http//www.emedicine.com/neuro/topic399.htm [Last accessed on 2006 Apr 20]
• 7 Norgauer J, Idzko M, Panther E, Hellstern O, Herouy Y. Xeroderma pigmentosum. Eur J Dermatol 2003; 13: 4-9
• 8 DiGiovanna JJ, Kraemer KH. Shining a light on xeroderma pigmentosum. J Invest Dermatol 2012; 132: 785-96
• 9 Warrick E, Garcia M, Chagnoleau C, Chevallier O, Bergoglio V, Sartori D. et al. Preclinical corrective gene transfer in xeroderma pigmentosum human skin stem cells. Mol Ther 2012; 20: 798-807
• 10 Lambert WC. Genetic diseases associated with DNA and chromosomal instability. Dermatol Clin 1987; 5: 85-108
• 11 Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis 2011; 6: 70
• 12 DiGiovanna JJ, Kraemer KH. Shining a light on xeroderma pigmentosum. J Invest Dermatol Mar 2012; 132: 785-96
• 13 Patton LL, Valdez IH. Xeroderma pigmentosum: Review and report of a case. Oral Surg Oral Med Oral Pathol 1991; 71: 297-300
• 14 Chavanne F, Broughton BC, Pietra D, Nardo T, Browitt A, Lehmann AR. et al. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. Cancer Res 2000; 60: 1974-82
• 15 Kraemer KH, Slor H. Xeroderma pigmentosum. Clin Dermatol 1985; 3: 33-69