An 8-year-old girl with numerous hypopigmented, ulcerated, and crusted patches on her face and forearms develops an indurated, crater-like, skin nodule on the back of her left hand. Biopsy of this skin nodule discloses a squamous cell carcinoma. Molecular biology studies reveal that this patient has germline mutations in the gene encoding a nucleotide excision repair enzyme. What is the appropriate diagnosis?
An 8-year-old girl with numerous hypopigmented, ulcerated, and crusted patches on her face and forearms develops an indurated, crater-like, skin nodule on the back of her left hand. Biopsy of this skin nodule discloses a squamous cell carcinoma. Molecular biology studies reveal that this patient has germline mutations in the gene encoding a nucleotide excision repair enzyme. What is the appropriate diagnosis?
π‘ Explanation
An 8-year-old girl with numerous hypopigmented, ulcerated, and crusted patches on her face and forearms develops an indurated, crater-like, skin nodule on the back of her left hand. Biopsy of this skin nodule discloses a squamous cell carcinoma. Molecular biology studies reveal that this patient has germline mutations in the gene encoding a nucleotide excision repair enzyme. What is the appropriate diagnosis?
β Correct Answer: D. Xeroderma pigmentosum
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