Dermotoscope assisted diagnosis of adolescent bullous pilomatricoma: six case reports.

BACKGROUND: Pilomatricoma (PM) is a cutaneous benign neoplasm derived from the hair matrix. It clinically presents as a solitary and firm nodule overlying normal epidermis and is usually not easy to be noticed at early stage. Nevertheless, when special bullous lesion occurs in a short time or even ulcerates, preoperative diagnosis by a dermatologist is often challenging especially when the pediatric patients refuse biopsy. CASE PRESENTATION: We present six bullous PM cases and particularly conduct correlation analysis on the dermotoscopy and histopathology detection data. The basic information, medical history, symptoms and lesion morphology results of the patients were also provided. We found that the incidence of bullous PM was higher in females than in males, and most patients were adolescents and the predilection location seem to be consistent in the vaccine injection site. The dermatoscopic features of bullous PM reported were luminous yellow structure below, with gray-blue homogeneous areas and branched capillary. The histological features were consistent with PM, and evident epidermis bullae were above the tumor with extraordinary dilation of lymphangion in the upper dermis. The patients described in this study were Chinese patients in Han population included 4 females and 2 males, coincidentally, they are almost teen-age, respectively are 5,11,17,19,21,22 year-old. CONCLUSIONS: This study reported and analyzed the dermotoscopy and clinical characteristics of bullous PM, dermotoscopy may guide as a rapid and reliable technique in bullous PM diagnosis.

Pilomatricoma Located at the Identical Position in the Right Upper Limb of the Twins: A Rare Case Report.

Introduction: Rare studies have reported pilomatricoma in twins, and extremely rare cases showed lesions in the same part of the body position. We reported a case of monozygotic twins with pilomatricoma in the same location on the skin of the right upper extremity. Case Presentation: Seven-year-old monozygotic twins presented to our department with a palpable, painless, and solid mass in the subcutaneous tissue of the right upper limb. A 1.5-cm diameter nodule was seen on the anterolateral aspect of the right upper extremity of the twins. The node was irregular in shape, and upon palpation, the patients reported no noticeable tenderness. Following the administration of local anesthesia, the twins underwent surgical procedure to excise the solid mass. Finally, they were diagnosed with pilomatricoma based on the clinical and histopathological features. Complete surgical resection followed by primary closure was performed. During a follow-up period of three years, there has been no recurrence observed in the twins. Conclusion: We reported a case of monozygotic twins with pilomatricoma in the same location on the skin of the right upper arm. Our findings underscore the requirement of considering genetic factors in the diagnosis and treatment of the rare conditions.

Facial Soft Tissue Lesions in Children.

Facial soft tissue lesions in children are often classified based on their structure or cellular origin and can be benign or malignant. This review focuses on common facial soft tissue lesions in children, their clinical morphology, natural history, and medical and surgical management, with an emphasis on those considerations unique to soft tissue lesions present at this anatomic site.

A case of AA amyloidosis complicated by proliferating pilomatricoma and a review of the literature.

Although AA amyloidosis is primarily caused by inflammatory conditions, associations between AA amyloidosis and solid cancers have occasionally been described. Herein, we report the case of a 48-year-old man in whom resection of a proliferating pilomatricoma with deposition of AA amyloid resulted in remission of concomitant AA gastrointestinal amyloidosis. A rapidly growing, giant, reddish, ulcerated tumor measuring 16 × 13 cm in size was identified on the upper left arm on a visit to our hospital. Gastrointestinal AA amyloidosis was diagnosed from colorectal mucosal biopsy at the same time, and weight loss and profuse diarrhea were clinically evident. As treatment, the tumor was resected with a 10-mm surgical margin. Histologically, the tumor predominantly comprised a lobular proliferation of basophilic cells peripherally, filled with eosinophilic, cornified material and shadow cells with mitoses observed in basophilic cells. Specimens revealed eosinophilic, homogeneous deposits around tumor nests, which were confirmed as amyloid deposits by positive staining with Congo red stain. These deposits were immunohistochemically positive on staining with anti-serum amyloid A antibody. Collectively, proliferating pilomatricoma with AA amyloidosis was diagnosed. After tumor resection, chronic diarrhea resolved and no amyloid deposition was apparent in colorectal biopsy. It is important to remember that if amyloid deposition is present in a tumor, aggressive tumor excision may alleviate systemic amyloidosis.

Pilomatrix carcinoma of the lower extremity: A rare case report and literature review.

INTRODUCTION: Pilomatrix carcinoma (PC) is a rare skin malignancy of the hair follicles matrix that tends to be locally aggressive with 10-16 % risk of metastasis mostly to the pulmonary and lymphatic system. There are no clear protocols for the management of PCs, however surgical intervention with clear margins has been highly considered in PC management to decrease risk of recurrence. CASE PRESENTATION: A 40 year-old male patient presented to our clinic to evaluate an asymptomatic, slow-growing nodule localized on his left thigh. A CT scan revealed a well-defined, enhanced lesion with microcalcification. "En bloc" surgical resection of the lesion was performed and histopathology confirmed the diagnosis of pilomatrix carcinoma. CLINICAL DISCUSSION: Given its rarity, there are no definitive guidelines regarding PC treatment. However, surgical intervention with clear margins including wide local excision or Mohs micrographic surgery has been highly considered. In our case, wide excision of the lesion with clear margins was performed with no evidence of recurrence one year later. CONCLUSION: Given the local aggressive nature of PC, appropriate surgical intervention is essential in decreasing the risk of recurrence. Wide excision with clear margins has been proposed to decrease the risk of recurrence. Additionally, total-body skin examination should be done 2-3 times annually to evaluate for recurrence or metastasis.

Post-traumatic pilomatricoma presenting as rapidly enlarging pediatric scalp mass.

Pilomatricomas (PM) are benign neoplasms that arise from hair follicle matrix cells. They are one of the most frequently excised pediatric skin masses. A typical clinical presentation is a slow growing, painless, firm, superficial mass in the head and neck of a child. We present a rare presentation of PM. A preschool aged girl presented with an enlarging scalp mass following a history of minor blunt trauma to the area. Two months prior, the child sustained a ground level fall and subsequently developed a painless "bump" at the site of injury on the scalp. The ``bump" was initially the size of a "mosquito bite" and enlarged to the size of a "ping pong ball". Given the rapid progression and history of trauma, there was a broad differential diagnosis. An extensive workup including sonography, computed tomography, MRI, and biopsy were performed. The final pathologic diagnosis was confirmed as pilomatricoma. An atypical presentation of PM in a child can mimic a wide variety of pathology. Our case demonstrates unusual features of rapid enlargement and preceding trauma. With the widespread use of sonography for evaluation of superficial lesions, the radiologist may be the first to suspect the diagnosis of PM. Knowledge of the typical imaging findings in PM can be valuable, especially in more unusual cases.

Integrating vascularity into the pattern classification of pilomatricomas on ultrasound provides a more competent approach for discriminative evaluation.

BACKGROUND: Pilomatricoma has various manifestations on color Doppler ultrasound, and a differential diagnosis is challenging. The objective of this study was to investigate which characteristics of skin lesions on color Doppler ultrasound are effective in distinguishing pilomatricoma from epidermoid cyst and dermatofibrosarcoma protuberans. MATERIALS AND METHODS: Records of patients with pilomatricomas (n = 63), epidermoid cysts (n = 76), and dermatofibrosarcoma protuberans (n = 19) who underwent color Doppler ultrasound evaluation and surgical excision were reviewed. The anatomical distribution and color Doppler ultrasound characteristics of these lesions were analyzed. The 63 pilomatricomas were categorized into five types based on their color Doppler ultrasound characteristics, and the roles of these five types in the differential diagnosis of the aforementioned diseases were studied. RESULTS: Pilomatricomas, epidermoid cysts, and dermatofibrosarcoma protuberans exhibited some similar characteristics. Dominantly markedly hyperechoic or hyperechoic appearance, posterior acoustic shadowing, and the presence of vascularity were the major characteristics of pilomatricomas. The pilomatricomas could be categorized into five types, with type II having a diagnostic performance of sensitivity of 65.08%, specificity of 98.95%, area under the receiver operating characteristic curve (AUC) of 0.743, positive predictive value of 97.62%, and negative predictive value of 81.03% for the diagnosis of the aforementioned skin diseases. CONCLUSION: A combination of dominantly markedly hyperechoic or hyperechoic appearance, posterior acoustic shadowing, and the presence of vascularity exhibits higher diagnostic performance for the differential diagnosis of pilomatricomas, epidermoid cysts, and dermatofibrosarcoma protuberans.

Unusual presentation of pilomatricoma: A case report and comprehensive review of the literature.

Pilomatricoma is a benign proliferative lesion of skin appendages that often affects the head, upper limbs, and lower limbs. The clinical appearance of the lesions is that of asymptomatic nodules measuring less than 3 cm. pathologically, these skin lesions show the presence of basaloid cell islands, eosinophilic cytoplasmic cells without nuclei, as well as hemorrhage and calcification. In this study, we present the case of an 8-year-old girl with a 5 × 5 cm skin lesion on the forearm, which lacked the typical firmness associated with pilomatricoma lesions during examination. After biopsy, the lesion was confirmed to be pilomatricoma. Furthermore, we have reviewed studies documenting pilomatricoma lesions with atypical clinical features. Based on reports of different clinical manifestations of pilomatricoma in these studies, we suggest that the clinical diagnosis of pilomatricoma should not be limited to the typical presentation of these lesions. In cases where the lesions exceed 3 cm in size, display cystic characteristics, are painful, or resemble keloids, consideration should also be given to the possibility of pilomatricoma.

Pilomatricoma on the Sole Following Wart Treatment.

Pilomatricoma is a benign skin tumor that arises from hair follicle stem cells. It typically presents in the facial region and rarely involves the palms and soles. A 15-year-old boy presented with a solitary tender nodule on the left sole. He had a history of plantar warts on the same site and had received multiple treatments including cryotherapy and intralesional bleomycin injection for nine months. Excisional biopsy was performed, and the specimen showed a well-demarcated mass in the deep dermis with basaloid cells undergoing abrupt keratinization. Ghost cells were seen with calcification. Based on these findings, he was diagnosed with pilomatricoma on the sole. We report a case of pilomatricoma, which developed on a site without hair follicles.

Pilomatricoma Growing at the SARS-CoV-2 mRNA Vaccination Site.

A healthy 21-year-old woman was presented to our outpatient clinic with an asymptomatic swelling on her left arm. She reported the administration of two doses of BNT162b2 mRNA vaccination at the lesion site earlier. The pathology report confirmed the diagnosis of pilomatricoma. Previously, needlestick trauma and various immunisations have been attributed to the development of pilomatricoma. We present this case to emphasise the possible association between BNT162b2 mRNA vaccination and pilomatricoma development. The role of persistent inflammation is also discussed.

Spatial transcriptomics of a giant pilomatricoma.

Pilomatricomas (PMs) are common benign adnexal tumors that show a predilection for the head and neck region and are characterized at the molecular level by activating mutations in the beta-catenin (CTNNB1) gene. Giant PMs are a rare histopathological variant, according to the World Health Organization, which are defined by a size greater than 4 cm and are reported to show upregulation of yes-associated protein compared to PMs of typical 1-3 cm size. We describe the case of a 67-year-old man with an 8 cm giant PM involving his temporal scalp, whose PM we characterized by 10X spatial gene expression analysis. This revealed five total transcriptomic clusters, including four distinct clusters within the giant PM, each with a unique transcriptional pattern of hair follicle-related factors, keratin gene expression, and beta-catenin pathway activity.

Atypical Pediatric Presentation of Pilomatricoma.

Pilomatricomas are uncommon, benign tumors of the hair follicle, which are often misdiagnosed upon initial inspection. Here we describe the case of a 4-year-old boy who presented with a persistent draining tumor on the left side of his neck for approximately two years. The tumor was originally misdiagnosed as scrofuloderma but, eventually, our patient's pilomatricoma was identified with biopsy and successfully treated with elliptical excision. We discuss the importance of considering pilomatricoma in the differential diagnosis.

A Rapidly Growing Forearm Pilomatricoma in an Elderly Patient.

Pilomatricoma is a benign skin tumor of epithelial hair matrix cells that typically presents as a solitary nodule on the head or upper trunk. It occurs most often in children and young adults. While considered uncommon in middle-aged and elderly patients, there are reports of elderly patients with histopathologically diagnosed pilomatricomas; however, these cases primarily occurred on the face. We present a case of an 88-year-old female with a history of non-melanoma skin cancer who presented with a new, rapidly enlarging, biopsy-proven pilomatricoma on the forearm. This case highlights a unique age of onset and location for this skin tumor, suggesting that pilomatricomas are not limited to children and young adults and should be considered in the differential diagnosis of rapidly growing skin lesions in elderly patients. Diagnosis should be confirmed with biopsy in elderly patients, as pilomatricomas may mimic malignant skin lesions.

Cutaneous Adnexal Tumours: A Study of 395 Cases from a Tertiary Care Hospital.

Background: Cutaneous adnexal tumours (CATs) are one of the commonest clinical presentations in dermatology outpatients. They constitute a subset of skin tumours with a common clinical presentation and variable histological findings. Almost all of them clinically present as a subcutaneous nodule. Depending upon the site and distribution, the clinician can suspect the diagnosis. However, histopathological examination is the gold standard for the definitive diagnosis and proper subtyping of CATs. Aims: The present study is conducted to see the overall spectrum, incidence and distribution of CATs in a large cohort at the tertiary care centre with their clinical profile. Methods: This was a retrospective study in which all the CATs diagnosed over a period of 5 years (2015 to 2019) in a tertiary care hospital were studied. Clinical data were recorded from the histopathology requisition forms. Results: Three hundred and ninety-five cases of CATs were retrieved. Approximately 90% of cases were benign and 10% were malignant. The age of presentation ranged from 8 months to 81 years with male preponderance in all the histological subtypes. The most common site was the head and neck followed by the extremities. Morphologically, the maximum cases showed a differentiation towards sweat glands (44%), followed by sebaceous (29%), follicular (26.5%) and apocrine differentiation (5.3%). Malignant tumours were common in the elderly age group with sebaceous carcinoma being the commonest. Conclusion: CATs comprise of a wide spectrum of tumours occurring in all age groups. Malignant CATs are rare and common in older age groups. Histopathological examination is the gold standard in distinguishing between the different subtypes.

Early-Stage Pilomatricoma with Cystic Features: A Case Report and Literature Review.

A conventional pilomatricoma presents as an asymptomatic, firm, subcutaneous nodule, commonly in the head, neck, and extremities of the paediatric population. However, its variants show diverse clinical features, which often pose a diagnostic challenge to clinicians. We recently treated an unusual case of pilomatricoma with cystic features in the upper chest of a 9-year-old girl, which manifested as a single solid tumour floating in a serous-filled sac formed by thick fibrous tissue. Herein, we present novel clinicopathological features of an early-stage pilomatricoma that should be clinically differentiated from a cutaneous abscess.

Auricle Pilomatricoma in Ear Lobule: A Case Report.

Introduction: Skin tumors are prevalent in the head and neck especially auricle but pilomatricoma is extremely rare in ear lobule. Case Report: A 7-year-old girl without a history of previous illness presented with a 1.5-month history of a lesion in the right ear lobule that tended to grow in size. It was a 2*2*2cm round, slightly painful lesion with soft tissue and light red in color that yielded bloody or serous fluid on aspiration. The lesion was enucleated. The diagnosis was pilomatricoma. Conclusion: Although very rare, pilomatricoma should be considered as a differential diagnosis of ear lobule neoplasms.

Clinicopathological Spectrum of Benign Skin Adnexal Tumors in the Pakistani Population: A Single-Center Study.

Background Skin adnexal tumors (SATs) are categorized per the site of origin, for example, hair follicles, sebaceous glands, and sweat glands. In our population, there is limited information related to the clinicopathological characteristics of these tumors. Management and prognosis depend largely upon the morphological type of the tumor. In this study, we assessed the disease spectrum and most prevalent subtypes of benign SATs. Methodology An analysis of 565 cases was conducted in this cross-sectional study between January 2018 and December 2022, using a non-probability consecutive sampling approach. Patient age, gender, site of involvement, and diagnosis were documented according to the fourth edition of the WHO Classification of Skin Tumors published in 2018. Data were entered and analyzed using SPSS Version 26.0 (IBM Corp., Armonk, NY). Results Our study had 565 patients, out of which 271 (47.9%) were males and 294 (52.1%) were females. The mean age was 40.97±19.3 years (range, 2-100 years). Anatomical site variations were as follows, head and neck (n=336, 59.4%), extremities (n=124, 22%), trunk (n=84, 14.9%), and genital areas (n=21, 3.7%). The most common histological subtypes of benign SATs were sweat gland origin (n=350, 62.0%), followed by hair follicle origin (n=161, 28.5 %), and sebaceous gland origin (n=54, 9.5%). Conclusion Sweat gland tumors were the most prevalent class of benign SATs in our study, in which hidradenoma and poroma were the most frequent subtypes. Hair follicle origin was the second most prevalent class of tumors with pilomatricoma being the most frequent. Sebaceous tumors were overall uncommon; nevus sebaceous of Jadasshon was the most common tumor in this class.

Cytomorphological spectrum of pilomatricoma - A series of 28 cases.

BACKGROUND: Pilomatricoma is a benign tumour that originates in the outer sheath of the hair follicle root. The clinical diagnosis of this rare entity is often missed, possibly due to a lack of awareness. Its characteristic cytomorphological features are sheets of ghost cells, basaloid cells, calcification and foreign body giant cell reaction. However, the above features may not all be present in all cases, rendering cytological diagnosis difficult. MATERIALS AND METHODS: This retrospective study included all cases of pilomatricoma diagnosed on fine needle aspiration over a period of 4 years. The histopathological diagnosis was retrieved for the cases wherever possible. A detailed histopathological and cytological evaluation was performed for the various components-basaloid cells, ghost cells, calcified debris, foreign body giant cells, bare nuclei, neutrophils, and macrophages-and they were graded on a scale of 0 to 3+. RESULTS: The 28 cases included 8 female and 20 male patients with a mean age of 34.6 years. Most cases (22 cases; 78.6%) were located in the head and neck, with the scalp being the most common site. Twenty-five cases were cytologically diagnosed as pilomatricoma based on a variable admixture of the various components-nests of basaloid cells, ghost cells, foreign body giant cell reaction, calcified debris and viable squamous cells. However, in two cases which showed an absence of basaloid cells, a differential diagnosis of epidermal inclusion cyst was also included. Another case showed a predominance of basaloid cells with a paucity of ghost cells, so a differential diagnosis of adnexal tumour was also included. Among all the cytological parameters, sheets of ghost cells followed by nests of basaloid cells and foreign body giant cell reaction had the highest sensitivity in the cytological diagnosis of pilomatricoma. CONCLUSION: The presence of sheets of ghost cells is the most sensitive parameter for the cytological diagnosis of pilomatricoma. It is important that pilomatricoma should be considered in the differential diagnosis of subcutaneous masses, particularly in the head and neck region.