Annals of medicine and surgery (2012) · 2025
Xeroderma pigmentosum associated with recurrent squamous and basal cell carcinoma: a case report from Nepal.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Paudel Prayash, Paudel Neetika, Aryal Ram, Khadgi Sajish, Acharya Rashmita, Shrestha Midori Pote, Bhandari Aashish, Kapoor Pramath
Аннотация
INTRODUCTION: Xeroderma pigmentosum (XP) significantly increases the risk of skin malignancies due to impaired DNA repair mechanisms. The estimated incidence is 1 in 250 000 in the USA. Patients with XP are more likely to develop cutaneous neoplasms, primarily melanoma, squamous cell carcinoma (SCC), and basal cell carcinoma (BCC), and the most prevalent cutaneous and ocular tumor is SCC.
CASE PRESENTATION: We present a case of a 21-year-old male from western Nepal who presented to Tribhuvan University Teaching Hospital with multiple lesions on the face and was diagnosed with SCC and BCC. We comprehensively evaluated the chronology of events and associated pathology, and a detailed review of prior medical and surgical records was performed.
DISCUSSION: XP is an uncommon, autosomal recessive disorder with mutations in nucleotide excision repair genes. Patients with XP are more likely to develop cutaneous and ocular neoplasms early in life, which are more aggressive and have a high recurrence rate.
CONCLUSION: Patients with XP can prolong their lives and avoid developing skin cancer by receiving early diagnosis and broad sun protection.
CASE PRESENTATION: We present a case of a 21-year-old male from western Nepal who presented to Tribhuvan University Teaching Hospital with multiple lesions on the face and was diagnosed with SCC and BCC. We comprehensively evaluated the chronology of events and associated pathology, and a detailed review of prior medical and surgical records was performed.
DISCUSSION: XP is an uncommon, autosomal recessive disorder with mutations in nucleotide excision repair genes. Patients with XP are more likely to develop cutaneous and ocular neoplasms early in life, which are more aggressive and have a high recurrence rate.
CONCLUSION: Patients with XP can prolong their lives and avoid developing skin cancer by receiving early diagnosis and broad sun protection.