Pilomatrix Carcinoma Research Articles

Does endometrial morular metaplasia represent odontogenic differentiation?

The nature of endometrial morular metaplasia (MorM) is still unknown. The nuclear β-catenin accumulation and the not rare ghost cell keratinization suggest a similarity with hard keratin-producing odontogenic and hair matrix tumors rather than with squamous differentiation. We aimed to compare MorM to hard keratin-producing tumors. Forty-one hard keratin-producing tumors, including 26 hair matrix tumors (20 pilomatrixomas and 6 pilomatrix carcinomas) and 15 odontogenic tumors (adamantinomatous craniopharyngiomas), were compared to 15 endometrioid carcinomas with MorM with or without squamous/keratinizing features. Immunohistochemistry for β-catenin, CD10, CDX2, ki67, p63, CK5/6, CK7, CK8/18, CK19, and pan-hard keratin was performed; 10 cases of endometrioid carcinomas with conventional squamous differentiation were used as controls. In adamantinomatous craniopharyngiomas, the β-catenin-accumulating cell clusters (whorl-like structures) were morphologically similar to MorM (round syncytial aggregates of bland cells with round-to-spindled nuclei and profuse cytoplasm), with overlapping squamous/keratinizing features (clear cells with prominent membrane, rounded squamous formations, ghost cells). Both MorM and whorl-like structures consistently showed positivity for CD10 and CDX2, with low ki67; cytokeratins pattern was also overlapping, although more variable. Hard keratin was focally/multifocally positive in 8 MorM cases and focally in one conventional squamous differentiation case. Hair matrix tumors showed no morphological or immunophenotypical overlap with MorM. MorM shows wide morphological and immunophenotypical overlap with the whorl-like structures of adamantinomatous craniopharyngiomas, which are analogous to enamel knots of tooth development. This suggests that MorM might be an aberrant mimic of odontogenic differentiation.

Pilomatrix carcinoma - pilomatrixoma: Two ends of the disease spectrum

Pilomatrixoma, pilomatrix carcinoma, are neoplasms of skin appendage with differentiation towards hair follicle matrix cells. They represent two ends of the spectrum with varying clinical and pathological characteristics. Pilomatrix carcinoma is a rare malignant neoplasm, having a tendency to recur locally, with a rare propensity for distant metastasis. There is a need to differentiate the two entity, for appropriate selection of treatment. We describe a case of a pilomatrixoma in a 62 year old gentleman over the right chest along with a review of pathology and treatment options. Keywords: Pilomatrix Carcinoma, Pilomatrixoma, Cutaneous neoplasms.

A Case of Pilomatrix Carcinoma on the Right Upper Extremity

A Case of Pilomatrix Carcinoma on the Right Upper Extremity

Liver Metastasis of Malignant Pilomatrixoma: Devastating Outcome from A Possibly Under-Treated Case

Malignant of pilomatrixoma, known as pilomatrix carcinoma, is a rare cutaneous adnexal tumor that derives from hair matrix cells.The tumor usually occurs in male, with the predominant age range between 40 to 60 years old, located in the head and neck area. The tumor consisted of atypical basaloid cells aggregation, ghost cells, and keratinous material. We report a case of 54 years old male patient referred to Cipto Mangunkusumo Hospital Jakarta with a mass in his right upper quadrant abdomen and a lump in the axilla. The magnitude resonance imaging (MRI) and positron emission tomography (PET)-scan revealed metastatic lesions in several lymph nodes and internal organs. The patient underwent liver biopsy which showed that tumor was composed of atypical basaloid cells, amyloid-like material, keratin mass, and was diagnosed as pilomatrix carcinoma. This case is being reported due to its rarity, potential pitfalls due to histologic similarity with several other entities, and to show the importance of histopathology examination in patient’s treatment to prevent a devastating outcome.

Pilomatrical Carcinoma in a 70-Year-Old Hispanic Female

Pilomatrical carcinoma is a rare, locally aggressive malignancy of follicular matrix origin. It presents as a rapidly growing, flesh-colored, or blueish, exophytic nodule with tumor asymmetry and poor circumscription. Histological features of these tumors include dominant hyperchromatic basaloid cells with high mitotic rate and nuclear pleomorphism; along with anucleate matrical cells and central necrosis. Pilomatrical carcinomas demonstrate a high rate of recurrence and tendency to metastasize. The most described treatment is wide excision of the tumor with negative margins with or without adjuvant radiation therapy. We present the case of a 70-year-old female patient who presented to the office with a 3-year history of a growing, exophytic lesion on the right nasal ala. A biopsy of the lesion was obtained, and histologic examination was consistent with a diagnosis of pilomatrical carcinoma.

Pilomatrix carcinoma in the presternal region. Very rare or very often misdiagnosed malignancy?

Pilomatrix carcinoma is a very rarely diagnosed malignancy. There are around 150 cases reported in the literature. In the very past this type of carcinoma was considered as a low-grade, non-metastasizing tumor. Nowadays with its high potential of recurrence and metastasizing the approach to this type of neoplasm should always be careful and multidisciplinary. The first line of therapy is wide surgical excision, followed by adjuvant radiotherapy. If there is observation of lymph node metastases they should be surgically or radiotherapeutically treated. In the present case report, we present a 46-year-old patient with pilomatrix carcinoma in the presternal region.

Pilomatrical Carcinoma of the Scalp in a Setting of Pilomatricoma and Trichilemmal Cysts—a Rare Entity

Pilomatrical carcinoma is one of the rare adnexal tumors with only 140 reported cases according to recent literature. The tumor has a propensity to arise in posterior neck, upper back and lower extremities and has 100% mortality if metastasizes. Hence, it is imperative to document the illusive nature of this deceptive tumor. The case under discussion is that of a 70-year-old male presenting with multiple small to large non-tender firm lesions over the scalp. The tumor, labeled as proliferative trichilemmal cyst, radiologically was excised, and the scalp was reconstructed by mobilization of the local area. Extensive sampling of the specimen received revealed morphology of pilomatricoma and trichilemmal cysts with a focus of stromal invasion in one of the lobules of pilomatricoma. Hence, a diagnosis of pilomatrical carcinoma was made, and the patient is on close follow-up since 1 year post-operatively with no signs of recurrence or cervical lymphadenopathy. Though of low malignant potential, the tumor is said to have recurrence potential. The prognosis is variable depending on the evidence of metastasis found if, at all, the mortality is 100%. Hence, extensive sampling and accurate diagnosis are essential to rule out the possibility of malignancy.

Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype.

Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease which results from an expansion of repetitive DNA elements within the 3' untranslated region of the DMPK gene. Some patients develop multiple pilomatricomas as well as malignant tumors in other tissues. Mutations of the catenin-β gene (CTNNB1) could be demonstrated in most non-syndromic pilomatricomas. In order to gain insight into the molecular mechanisms which might be responsible for the occurrence of multiple pilomatricomas and cancers in patients with DM1, we have sequenced the CTNNB1 gene of four pilomatricomas and of one pilomatrical carcinoma which developed in one patient with molecularly proven DM1 within 4 years. We further analyzed the pilomatrical tumors for microsatellite instability as well as by NGS for mutations in 161 cancer-associated genes. Somatic and independent point-mutations were detected at typical hotspot regions of CTNNB1 (S33C, S33F, G34V, T41I) while one mutation within CTNNB1 represented a duplication mutation (G34dup.). Pilomatricoma samples were analyzed for microsatellite instability and expression of mismatch repair proteins but no mutated microsatellites could be detected and expression of mismatch repair proteins MLH1, MSH2, MSH6, PMS2 was not perturbed. NGS analysis only revealed one heterozygous germline mutation c.8494C>T; p.(Arg2832Cys) within the ataxia telangiectasia mutated gene (ATM) which remained heterozygous in the pilomatrical tumors. The detection of different somatic mutations in different pilomatricomas and in the pilomatrical carcinoma as well as the observation that the patient developed multiple pilomatricomas and one pilomatrical carcinoma over a short time period strongly suggest that the patient displays a hypermutation phenotype. This hypermutability seems to be tissue and gene restricted. Simultaneous transcription of the mutated DMPK gene and the CTNNB1 gene in cycling hair follicles might constitute an explanation for the observed tissue and gene specificity of hypermutability observed in DM1 patients. Elucidation of putative mechanisms responsible for hypermutability in DM1 patients requires further research.

Pilomatrix Carcinoma in a Patient With Type 1 Myotonic Dystrophy: A Case Report

This is the first report of pilomatrix carcinoma in a man with C282Y myotonic dystrophy type 1. This pilomatrix carcinoma had originally presented as a rapidly growing recurrence of a histopathologically confirmed pilomatrixoma, removed a year prior. On examination, the fungating mass had measured 10 × 23 cm. A wide local resection with removal of suspicious lymph nodes was preformed, and the resulting defect was reconstructed with a latissimus dorsi myocutaneous flap and skin graft. Histologic investigation of the excised mass confirmed the diagnosis of pilomatrix carcinoma. This is the first reported case of pilomatrix carcinoma in a patient with a genetic condition that often presents with scalp pilomatrixomas. Potential implications of myotonic dystrophy on developing pilomatrix carcinoma are discussed.

Cutaneous Pilomatrical Carcinosarcoma in a Dog

Malignant pilomatricomas are uncommon cutaneous neoplasms in veterinary and human medicine. Pilomatrical carcinosarcoma is a rare subset of malignant pilomatricoma that has been described in man. This article reports a neoplasm with morphological features of pilomatrical carcinosarcoma in a dog. The nodular neoplasm occurred on the left lateral hock and was partially alopecic. Microscopically, the tumour was composed of a cystic carcinomatous component surrounding areas of abrupt keratinization and a sarcomatous component exhibiting bundles of spindle cells and irregular, scalloped areas of mineralized and non-mineralized osteoid matrix. The carcinomatous and sarcomatous areas were immunoreactive for pan-cytokeratin and vimentin, respectively, while immunoreactivity for e-cadherin was restricted to the carcinomatous component of the neoplasm. The unique morphological features of this tumour were similar to those described in human pilomatrical carcinosarcoma.

Malignant pilomatricoma of the cheek in an infant.

Malignant pilomatricoma (pilomatrical carcinoma) is a rare, locally occurring malignant tumor with a high rate of recurrence in the case of incomplete excision. This tumor has two characteristics. First, recurrences of pilomatrical carcinoma are common; second, distant metastasis is rare, but if it occurs, it is very fatal. It has characteristic features of high mitotic counts, cellular atypia, and local invasion. Although fine needle aspiration and excisional biopsy could help to confirm this tumor diagnosis, pathologic findings are critical. Pilomatricomas have some characteristic features in histological aspect, such as epithelial islands of basaloid cells and shadow cells or ghost cell. Also, various types of immunohistochemical staining are used to confirm the diagnosis. Despite the lack of clear surgical criteria, treatment is a wide local excision with histologically clear resection margins with or without adjuvant radiotherapy.

Pilomatrix carcinoma treated by means of Mohs micrographic surgery

Pilomatrix carcinoma treated by means of Mohs micrographic surgery

Pilomatrix Carcinoma in Male Breast:A Case Report and Literature Review

Pilomatrix Carcinoma in Male Breast:A Case Report and Literature Review

Pilomatrix carcinoma of the nose: Clinical and dermoscopic presentation

Pilomatrix carcinoma of the nose: Clinical and dermoscopic presentation

Pilomatrical carcinoma – a case report and review of the literature

Pilomatrical carcinoma – a case report and review of the literature

CDX2 and LEF-1 expression in pilomatrical tumors and their utility in the diagnosis of pilomatrical carcinoma.

The Wnt signaling pathway has been implicated in the pathogenesis of pilomatrical tumors. Lymphoid enhancer-binding factor 1 (LEF-1) is a downstream component of this pathway, and Caudal-related homeobox transcription factor 2 (CDX2) has been postulated to regulate it, but little is known about expression of these transcription factors in pilomatrical tumors. Immunohistochemistry for CDX2, β-catenin, LEF-1, CK19, CK5, Special AT-rich sequence- binding protein 2 (SATB2), cadherin 17 and androgen receptor was performed on pilomatricomas (PMs) (N = 12), pilomatrical carcinomas (PMCAs) (N = 12) and non-pilomatrical cutaneous tumors (N = 18). PMs and PMCAs were positive for CDX2 (9/12 PMs, sensitivity = 75%, specificity = 100%; 11/12 PMCAs, sensitivity = 92%, specificity = 100%; P < 0.01), β-catenin (12/12 PMs, sensitivity = 100%, specificity = 94%; 10/12 PMCAs, sensitivity = 83%, specificity = 94%; P < 0.01) and LEF-1 (12/12 PMs, sensitivity = 100%, specificity = 56%; 12/12 PMCAs, sensitivity = 100%, specificity = 56%; P < 0.01). CDX2 expression was commonly focal, within a discrete subpopulation of squamoid cells. The LEF-1 expression pattern was different and discernable between pilomatrical tumors (strong, diffuse) and non-pilomatrical tumors (weak, patchy). This study reaffirms the importance of the Wnt signaling pathway in the tumorigenesis of pilomatrical tumors, and this introduces CDX2 as a possible regulator and marker of pilomatrical tumorigenesis. LEF-1 and CDX2 performed at least as well as β-catenin, if not better when taking into account expression pattern, as a diagnostic marker for PMCA, and should be considered in the workup of ambiguous primitive-appearing cutaneous tumors.

A unicorn among zebras: Primary ovarian pilomatrix carcinoma

A unicorn among zebras: Primary ovarian pilomatrix carcinoma

Perforating osteoma cutis: case report and literature review of patients with a solitary perforating osteoma cutis lesion

Osteoma cutis, the development of bone in the dermis and/or subcutaneous fat, can occur as either a primary or secondary condition. Perforating osteoma cutis is rare. A man with a solitary lesion of perforating osteoma cutis is described and the features of individuals with a single perforating osteoma cutis skin lesion are reviewed. A solitary lesion of either primary or secondary perforating osteoma cutis has only been observed in two men and one woman; the lesions had been present from less than one month to 19 or 20 years prior to establishing the diagnosis. The lesion was either located on the forehead (two men) or the breast (one woman). The erythematous (two lesions) or flesh-colored nodules ranged in size from 8×8 millimeters to 1.5×0.5 centimeters. Each had epidermal perforation by bone through a central area that was either crateriform or crusted or keratotic. The clinical differential diagnosis included keratoacanthoma, phlebolith, pilomatricoma, pilomatrical carcinoma, and squamous cell carcinoma. The perforating osteoma cutis lesion was successfully treated with either excision or shave biopsy without recurrence at either 10 or 12-months follow-up.

Pilomatrix carcinoma on the left temporal region: A case report and review of the literature

AbstractPilomatrix carcinoma is a very rare malignant tumor. The present article raises awareness of the clinical features, diagnosis, and treatment of this malignancy. The clinical data of a case of pilomatrix carcinoma of the left temporal region treated at the First Affiliated Hospital of Nan Chang University, Nan Chang, China, in April 2017 were analyzed retrospectively, and the related literature was reviewed. The patient underwent a wide excision of the mass, and microscopic examination revealed that the tumor showed the typical features of pilomatrix carcinoma. Pilomatrix carcinoma is a very rare tumor with approximately 130 cases reported in the English literature. An optimal treatment regimen has not been established; however, wide surgical excision is recommended to avoid recurrence when the staging shows no metastasis, and adjuvant radiotherapy might be beneficial for local tumor control. Pilomatrix carcinoma is considered to be a low‐grade malignant tumor and shows an aggressive growth pattern. A wide surgical excision and radiotherapy are the main modalities of treatment.

Pilomatrix carcinoma: 12‐year experience and review of the literature

Pilomatrix carcinoma is a rare, locally aggressive tumor with a tendency to recur. Distant metastases have been reported, with pulmonary lesions being the most frequent manifestation. Similar to pilomatrixoma, pilomatrix carcinoma typically presents as a nontender, firm dermal swelling and is found most commonly in the head and neck region. Although pilomatrixomas and pilomatrix carcinoma are well-recognized lesions, clinically they are frequently misdiagnosed as other skin conditions. By reviewing the literature over the past 10 years, the aims of this review are to analyze the cause, clinical presentation, histopathologic features, management and outcomes of pilomatrix carcinoma amongst children and adults.