Lung adenocarcinoma concomitant with xeroderma pigmentosum: a case report
| Autor: | Kazumi Kaneshiro, Masataka Matsumoto, Kiyonobu Takatsuki |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pathology
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Dermatosis Xeroderma pigmentosum Lung Neoplasms Skin Neoplasms Ultraviolet Rays lcsh:Medicine Case Report Adenocarcinoma of Lung 03 medical and health sciences 0302 clinical medicine Gefitinib Dry skin Medicine Humans Basal cell carcinoma 030212 general & internal medicine Epidermal growth factor receptor Lung cancer skin and connective tissue diseases Xeroderma Pigmentosum biology integumentary system business.industry lcsh:R nutritional and metabolic diseases General Medicine medicine.disease Consanguineous marriage biology.protein Adenocarcinoma DNA damage Female Skin cancer medicine.symptom business 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | Journal of Medical Case Reports Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-4 (2021) |
| ISSN: | 1752-1947 |
| Popis: | Background Xeroderma pigmentosum is a rare, autosomal-recessive photosensitive dermatosis. Patients with xeroderma pigmentosum have an impaired ability to repair deoxyribonucleic acid damage caused by ultraviolet rays, resulting in skin cancer. Patients with xeroderma pigmentosum are more susceptible to some cancers. We herein report a case of xeroderma pigmentosum accompanied by lung cancer. Case presentation The patient was a Japanese woman in her 70s with a family history of consanguineous marriage. Her medical history included squamous cell carcinoma and basal cell carcinoma, in addition to xeroderma pigmentosum. She presented with dry skin with small, pigmented spots, which were particularly focused around the areas exposed to sunlight. Chest computed tomography was conducted to assess for any evidence of metastatic skin carcinoma, and revealed a tumor in the left upper subpleural lobe of the lung. Consequently, she was referred to our department. Finally, we diagnosed lung adenocarcinoma (pT2aN0M1b: stage IVA). She had an epidermal growth factor receptor (EGFR) mutation (p.L858R). Treatment with an epidermal growth factor receptor tyrosine kinase inhibitor (gefitinib) was initiated, and the tumor gradually regressed. No side effects were observed. However, she later died from aspiration pneumonia. Conclusions Although xeroderma pigmentosum is rare, a history of consanguineous marriage should be verified. Because of the severe side effects of cisplatin and radiotherapy in xeroderma pigmentosum patients, the risks and benefits of treatment should be considered thoroughly. |
| Databáze: | OpenAIRE |
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