Cytological Diagnosis of Pilomatrixoma and its Diagnostic Pitfalls

Pilomatrixoma (PMX) is a relatively uncommon benign cutaneous neoplasm arising from skin adnexa. It presents as a subcutaneous asymptomatic nodule mostly in the head and neck region and is frequently misdiagnosed by the clinicians. Although easily diagnosed on histopathology, the cytologic features of PMX are less distinctive, depending on the stage and evolution of disease and may mimic other benign or even malignant lesions.

To study the cyto-morphological features of this uncommon neoplasm and identify its potential diagnostic pitfalls on fine needle aspiration cytology (FNAC).

Archival records of histopathologically diagnosed Pilomatrixoma were analyzed during study period of 2.5 years. Clinical diagnosis, preoperative FNA characteristics, and histopathological details were studied in each case. Cytologic pitfalls resulting in misdiagnosis of PMX cases on FNAC were evaluated in discordant cases.

The series showed male preponderance, with head and neck being the commonest site. Out of 21 histopathologically proven cases of PMX, cytological correlation was available in 18 cases. A correct cytologic diagnosis of PMX/adnexal tumor was rendered in 13 cases. Erroneous diagnosis was given in 5 cases mainly because of the predominance of one component over the other or non-representative-aspirated material.

The present study highlights the importance of careful screening of FNAC smears keeping in mind the variability in the relevant cytologic features of PMX and creates awareness about the lesions that can mimic Pilomatrixoma resulting in diagnostic dilemma.