We report the case of a 6-year-old female with xeroderma pigmentosum (XP) who developed a nonoperable scalp tumor, treated with anti-programmed cell death protein 1 (anti-PD-1) therapy (nivolumab). She presented with a sarcomatoid carcinoma of the scalp with bone lysis as well as vascular and meningeal contact. Nivolumab was initiated because it has emerged as a promising immunotherapy. We observed a dramatic tumor response with excellent tolerance. However, while on nivolumab therapy she developed two large skin melanomas and several squamous cell carcinomas, which have been resected. These results demonstrate that cancer immunotherapy in patients with XP can be impressive but complex and warrants further investigation.
EditorSpecific cutaneous expression of B-cell chronic lymphocytic leukaemia (B-CLL), referred as leukaemia cutis (LC), is unusual. 1 Lesions present themselves clinically as solitary, grouped or generalized papules, nodules, plaques or large tumours. 1 Rare clinical manifestations include vesiculobullous eruptions, 1 chronic paronychia and subungual tumours. 2 Even though the occurrence of LC in B-CLL appears to have no impact on the prognosis, it is usually treated.A 72-year-old man presented to our outpatient clinic with multiple asymptomatic erythematous papules and nodules on the back (Fig. 1). Skin lesions appeared progressively in 6 months. The peripheral blood (PB) count was normal: red blood cells (RBC) 4.7 · 10 12 ⁄ L, white blood cells (WBC) 8.3 · 10 9 ⁄ L with 4.32 · 10 9 ⁄ L neutrophils, 2.57 · 10 9 ⁄ L lymphocytes and 228 · 10 9 ⁄ L platelets. The rest of the physical examination was normal. Lesional skin biopsy showed an intense infiltrate in the dermis and subcutis of small lymphocytes containing round, regular and scant cytoplasm with frequent smudge cell morphology. The nuclei had dense chromatin. Occasional mitotic figures were detected. No epidermotropism was found. The neoplastic cells expressed CD19 ⁄ CD20, CD23 and CD5 antigens. The cells were negative for CD3, CD30, CD4 and CD8. Four weeks later, a new
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