Pilomatricoma as a diagnostic pitfall in clinical practice: Report of two cases and review of literature

Departments of Pathology and Oncology Advanced Medical and Dental Institute, Universiti Sains Malaysia, Malaysia.
Indian Journal of Dermatology 04/2010; 55(4):390-2. DOI: 10.4103/0019-5154.74566
Source: PubMed


Pilomatricoma (PMC) is a relatively uncommon benign skin neoplasm arising from the skin adnexa. Since the first description of PMC in 1880, there has been a gradual increase in understanding of the morphologic features and clinical presentation of this tumor. However, difficulties still persist in making clinical and cytologic diagnosis. We report the clinical and histopathological findings of two cases of pilomatricoma. In case 1, a 10-year-old girl presented with a right upper back mass. In case 2, a nine-year-old girl presented with a left ear lobe mass. The clinical findings in both the cases were suggestive of epidermoid/dermoid cyst. However, subsequent histopathologic examination confirmed these cases as pilomatricoma. This report reveals that pilomatricoma is a frequently misdiagnosed entity in clinical practice. The purpose of this article is to create awareness among clinicians on the possibility of pilomatricoma as a cause of solitary skin nodules, especially those on the head, neck or upper extremities.

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    • "This can be attributed to lack of familiarity with this uncommon tumor. Clinically these lesions can be suspected based on two pathognomonic signs – “the tent sign” [9] in which the stretching of the overlying skin causes multiple facets and angles of the lesion and “the teeter-totter sign” [10] in which pressing of one edge of the lesion causes the other edge to protrude from the skin. "
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    ABSTRACT: The aim of the following study is to characterize the cytological features of pilomatricomas (PMXs) on fine-needle aspiration (FNA) and correlate with the histopathological features. FNA, histopathological and clinical diagnosis of 12 cases of PMXs were analyzed. Clinical, aspiration findings and histopathological features were correlated with histopathological diagnosis which was taken as the gold standard. A written consent was taken from patients or parents as appropriate. Morphological features of both aspiration as well as histopathological features were graded. The study was duly approved by the Hospital Scientific Review Committee. Out of the 7600 cases studied retrospectively over a period of 4 years, only 12 cases were diagnosed as PMXs. These tumors were mainly located in the head and neck region and mostly affected young females (median age 9.5 years). The mean size of these lesions was 0.9 cm. Out of the 12 histopathologically proven cases of PMX, the correct clinical diagnosis was given in only one case while cytopathological diagnosis was achieved in four cases. PMX is a rare tumor, which is mostly found in the pediatric age group. The clinical features should be keenly observed. Keeping in mind the diagnostic pitfalls a cytopathologist may encounter, histopathology should be regarded as the gold standard for diagnosis.
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    ABSTRACT: Pilomatrixoma (PMX) is a skin appendage tumor of hair matrix origin, which usually occurs on the face or upper extremities. Although the lesion can appear at any age, it is commonly seen in children and is more common in females. Despite being better defined, pilomatricomas continue to be frequently misdiagnosed and are not usually considered in differential diagnoses, either in clinical set-up or during cytological reporting. They typically present as a superficial, firm, solitary, slow-growing, painless mass in the dermis. The overlying skin may be normal or exhibit a bluish-red discoloration or ulceration. We report an 18-year-old girl presented with tender, subcutaneous nodule with overlying skin showing atrophy and hypopigmentation. Clinically, it was diagnosed as neurofibroma and sent for FNAC. We offered precise diagnosis of pilomatrixoma on cytological examination, (where chances of wrong diagnosis are very high) and it was subsequently confirmed by histopathology. We discuss the varied clinical presentations, diagnostic difficulties, and differential diagnoses of PMX.
    Indian Journal of Dermatology 10/2013; 58(5):405. DOI:10.4103/0019-5154.117312
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