Track: Case Reports

Topic: Neoplasia,Carcinogensis,Tumor Biology

Abstract:

Myelodysplastic neoplasm (MDS) is neoplastic myeloid disease characterized by ineffective hematopoiesis and cytopenias. MDS can present with disease-specific and nonspecific cutaneous involvement. Disease-specific skin lesions include leukemia cutis and cutaneous myelodysplasia. Nonspecific skin lesions include neutrophilic dermatoses and vasculitis. TP53 gene mutation is a key factor in the pathogenesis of MDS and associated with an unforavable prognosis. Identifying this mutation along with utilizing relevant immunostains is vital in confirming the diagnosis of cutaneous involvement of MDS. We present the clinical, histopathological, and immunohistochemical features of a case of MDS with cutaneous involvement. A 48-year-old male with a past medical history of MDS presented to dermatology with pruritic papules and nodules on the trunk and extremities of two months duration. Physical examination demonstrated firm, dome-shaped, and smooth erythematous-to-violaceous papules and nodules, some with central ulceration and crusting. A 5-mm punch biopsy from the thigh showed crusted ulceration overlying an atypical monocytic proliferation with background inflammation. Immunohistochemical staining demonstrated CD68 positivity. There was focal positivity for MPO and CD117. The cells were negative for CD34. GMS, PAS, and FITE stains were negative for microorganisms. PCR confirmed a TP53 mutation identical to that previously identified in the bone marrow, which supported the diagnosis of cutaneous involvement of the patient’s known MDS. Greater awareness of cutaneous involvement of MDS is important, especially since disease-specific skin lesions are associated with a worse prognosis. Early recognition of the unique clinical and histological findings can help avoid delay in diagnosis and initiation of appropriate treatment.

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Jennifer Jiang, M.D.