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Oral mucosa involvement in pediatric patients with xeroderma pigmentosum: a comprehensive review
Defne Baskurt1, Secil Vural1,2, Sümeyre S Ertekin2
1School of Medicine, Koç University, Istanbul, Turkey.
Background:
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder presenting with an inability to repair UV-induced DNA damage. This can lead to the development of neoplasms affecting multiple organ systems, with onset often in childhood. Unfortunately, no cure currently exists for XP, and management strategies focus on sun protection and early intervention for malignancies. Although most skin problems in XP patients are UV induced, various oral lesions are also described. However, the literature has not extensively characterized the oral manifestations and their prognostic significance.
Methods:
We conducted a comprehensive review to evaluate the prevalence and nature of oral mucosal lesions in pediatric XP patients.
Results:
Our literature search yielded 130 pediatric XP patients with oral involvement and 210 associated tumoral or non-tumoral lesions. Squamous cell carcinoma was the most common type of oral mucosal tumor reported, with other malignancies including basal cell carcinoma, melanoma, angiosarcoma, fibrosarcoma, and trichilemmal carcinoma.
Conclusion:
Given the potential morbidity and mortality associated with oral mucosal tumors in XP patients, our study aims to raise awareness of these manifestations. Early diagnosis and treatment are crucial for managing these lesions effectively, and routine oral exams should be considered a critical component of dermatological evaluations for XP patients, especially in the pediatric age group.
Insights
Xeroderma pigmentosum (XP) patients frequently develop oral lesions, including various cancers. Early oral examinations are vital for managing these potentially life-threatening conditions in children with XP.
Area of Science:
- Genetics and Molecular Biology
- Oncology
- Dermatology
Background:
- Xeroderma pigmentosum (XP) is a rare genetic disorder impairing DNA repair, leading to UV-induced damage and increased cancer risk.
- XP patients often develop neoplasms, with oral manifestations being less characterized but significant.
- Current XP management focuses on sun protection and malignancy surveillance, lacking specific oral care guidelines.
Approach:
- A comprehensive literature review was performed.
- The review focused on evaluating the prevalence and characteristics of oral mucosal lesions in pediatric XP patients.
- Data from 130 pediatric XP patients with oral involvement were analyzed.
Key Points:
- The study identified 210 oral lesions (tumoral and non-tumoral) in pediatric XP patients.
- Squamous cell carcinoma was the most prevalent oral malignancy.
- Other reported oral malignancies included basal cell carcinoma, melanoma, angiosarcoma, fibrosarcoma, and trichilemmal carcinoma.
Conclusions:
- Oral mucosal tumors in XP patients pose significant morbidity and mortality risks.
- Early diagnosis and prompt treatment of oral lesions are critical for improved outcomes.
- Routine oral examinations should be integrated into the dermatological care of pediatric XP patients.
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