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Case Reports

Abstract

We present a case of 28-year-old female with a known history of xeroderma pigmentosum (XP) with multiple skin lesions diagnosed as well differentiated squamous cell carcinoma (SCC), melanoma in-situ, invasive melanoma and basal cell carcinoma (BCC) since the age of 10. Recently, she developed a red macule on her left lateral dorsal foot for which shave biopsy was performed. Histopathology revealed diffuse dermal spindle cell proliferation with variable cytologic atypia and readily identifiable mitoses. The proliferative cells stained positive for CD10 and negative for SOX10, S100, MelanA and P40 immunostainings arguing against the diagnoses of melanoma and carcinoma. Hence, the diagnosis of atypical fibroxanthoma (AFX) was rendered. XP is a rare autosomal recessive disease due to DNA repair defect leading to increased sensitivity to sun exposure and skin malignancies. The skin malignancies commonly seen in XP patients include, SCC, BCC and melanoma.  AFX is a dermal based neoplasm which occur commonly in sun exposed skin of elderly patients. However, it is extraordinarily rare in the limbs and trunks of young patients. It is rarely seen in patients with XP with only 5 of such cases reported in the literature till date. To our knowledge, this is the first case of AFX in an XP patient occurring at acral site with minimal sun exposure in the literature.