Subcutaneous pilomatrix carcinoma: A radiopathological challenge

Clinical Cases 08.12.2020
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Section: Musculoskeletal system
Case Type: Clinical Cases
Patient: 49 years, male
Authors: Gotzon Iglesias1, Ane Gartzia2, Begoña Canteli1
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AI Report

Clinical History

A 49-year-old man was referred to our institution to evaluate a hypogastric subcutaneous mass of recent onset that experienced very fast growth in the last five months.

Imaging Findings

Contrast-enhanced CT showed a well-defined, hypogastric subcutaneous soft tissue mass, 45 mm in size. The mass was hyperdense with heterogeneous intralesional pattern. MRI demonstrated a well-circumscribed subcutaneous mass that showed an intermediate T1 signal similar to muscle and low signal on DP, T2 and T2FS images showing small spots and lines of higher intensity with perilesional fat edema and skin engorgement above the mass. It has no significant gadolinium uptake, but there was a thin peripheral enhancement and intense enhancement of the skin above the mass (Figure 2). Ultrasound-guided biopsy showed a hyperechogenic mass without significant vascularization on Doppler (Figure 1B). Initial histologic diagnosis was pilomatrixoma. After surgery, histological examination demonstrated nests of proliferating basaloid cells transitioning to shadow cells. Tumour cells showed atypia and mitoses. This pattern with the presence of shadow cells and increased mitotic activity led to the diagnosis of pilomatrix carcinoma (Figure 3).

Discussion

Background

Pilomatrix carcinomas (PC) are rare malignant variants of pilomatrixomas, first described in 1980 by Lopansri and Mihm [1].

Clinical Perspective

PC affects more frequently middle-aged and older patients and its usual presentation involves the posterior neck [2,3], upper back and pre-auricular areas [3] and rarely in the trunk, extremities, and genital area [4, 5]. They are usually multicoloured, asymptomatic cystic or solid masses from 0.5 to 14.5 cm [2] with a slow-or fast-growing pattern [6]. PC may develop from benign pilomatrixomas [7]. The diagnosis of PC depends on the presence of histopathologic features: basaloid, ghost, and squamous cells exhibiting varying degrees of atypia and pleomorphism, high proliferative index and an infiltrative growth pattern with central necrosis and infiltration into fat or underlying structures [2, 6]. In our case, cells showed pleomorphism, vesicular nucleus, mitoses, and prominent nucleoli, which are signs of malignancy. However, tumour margin was well circumscribed with no infiltrative changes on both radiological and histological examination, like benign pilomatrixomas [8].

Imaging Perspective

Campoy et al [9] described a recurrent PC of soft tissue in the back invading the spinal canal as having a high signal intensity on T2WI and intermediate signal intensity on T1WI [9]. Niwa et al [3] described a PC of the axilla as a diffusely inhomogeneous mass, with areas of low signal intensity in the T2 WI that corresponded to calcifications, and diffusely inhomogeneous signal intensities observed with contrast enhancement that could relate to varying degrees of proliferating tumour. They described high signal intensity areas in unenhanced T1 and T2 WI that represented cystic spaces in area of tumour necrosis. PC show intense FDG uptake on 18F-FDG PET/CT [4, 10]. In our case CT, MRI and US revealed a well-circumscribed lesion, with T1 homogenous hypointensity, and a slight internal reticular hyperintensity on T2 and T2FS, with ring-like enhancement.

Outcome

Local surgery with wide margins ensures good prognosis and a better survival rate [6].  Radiotherapy may be beneficial [5, 11]. Rate of recurrence varies between wide local excision and simple excision at 23% and 83% respectively. Local recurrence is a predictor of tumour metastasis [5, 6] with a risk between 13% and 16 % [11]. Distant metastasis (lungs, brain, bones, liver and pleura) are very rare and they usually occur in locoregional lymph nodes [5, 10, 12].

Take-Home Message / Teaching Points

PC share characteristics with benign pilomatrixoma. Hystologic analysis of the entire tumour is necessary to reach a definite diagnosis.

Differential Diagnosis List

Pilomatrix carcinoma
Benign pilomatrixoma
Squamous cell carcinoma
Basal cell carcinoma
Epidermal cyst

Final Diagnosis

Pilomatrix carcinoma

Figures

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A) CT image after contrast administration (venous phase) showing a well-defined, slightly heterogenous, subcutaneous hyperden
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A) CT image after contrast administration (venous phase) showing a well-defined, slightly heterogenous, subcutaneous hyperden

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A) Axial T2 and B) Axial T2FS weighted MR images show a diffusely homogeneous mass with significant low signal intensity and
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A) Axial T2 and B) Axial T2FS weighted MR images show a diffusely homogeneous mass with significant low signal intensity and
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A) Axial T2 and B) Axial T2FS weighted MR images show a diffusely homogeneous mass with significant low signal intensity and
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A) Axial T2 and B) Axial T2FS weighted MR images show a diffusely homogeneous mass with significant low signal intensity and
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A) Axial T2 and B) Axial T2FS weighted MR images show a diffusely homogeneous mass with significant low signal intensity and
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A) Axial T2 and B) Axial T2FS weighted MR images show a diffusely homogeneous mass with significant low signal intensity and

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A) Microscopic examination shows a proliferation of basophilic cells and shadow cells (haematoxylin and eosin (H&E) x 40). B
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A) Microscopic examination shows a proliferation of basophilic cells and shadow cells (haematoxylin and eosin (H&E) x 40). B