Keloid of Pinna Revealed a Chondroid Syringoma in Disguise.

Cutaneous mixed tumor or chondroid syringoma is a rare benign, skin appendageal tumor prevalent in areas of the head and neck. It represents the cutaneous counterpart of the pleomorphic adenoma of salivary glands. Its clinical presentation often misguides the clinician to underdiagnose it as a reactive lesion. We report the case of a 94-year-old male admitted for excision of cutaneous carcinoma concurrently with a chondroid syringoma of the pinna provisionally misdiagnosed as a keloid.

Diagnosis and treatment of mixed salivary gland tumor previously diagnosed as cutaneous chondroid syringoma proximal to the oral commissure: A case report.

Subcutaneous tumors of the head and neck resembling cutaneous mixed tumors may be misdiagnosed pleomorphic adenomas of salivary gland origin. Physicians should consider salivary mixed tumors in the differential diagnosis for suspected cutaneous tumors.

Chondroid syringoma of the nose: A rare case report and literature review.

INTRODUCTION AND IMPORTANCE: A chondroid syringoma is an exceptionally rare benign lesion of the sweat glands also known as mixed tumor of the skin (MTS). It can occur in different areas of the head and neck such as the lips, cheek, nose and scalp (Gotoh et al., 2022 [1]). It is usually painless and grows slowly. Based on pathological features it can be differentiated into apocrine or eccrine (Mixed cutaneous tumor: chondroid syringoma a case report, 2019 [2]). CASE PRESENTATION: Our patient presented with a nasal lesion in the left soft triangle, progressively increasing in size. He did not undergo any surgeries to the nose or any history of trauma. Due to the COVID-19 lockdown our patient did not seek early medical advice. In addition, the implementation of facemasks enabled for the concealment of the abnormality, which reduced the need of seeking treatment. CLINICAL DISCUSSION: Chondroid syringoma is a non-ulcerative tumor that grows slowly with an average diameter between 0.5 and 3 cm, however lesions reaching 9 cm have been also seen (Wan et al., 2018 [4]). The mainstay method of management is surgical excision while maintaining the aesthetic appearance of the patient. CONCLUSION: Owing to its rarity, clinical misdiagnosis is common, however absolute diagnosis is achieved by histopathology. This case delineates the rarity of this lesion and the mainstay method of management, which is surgical excision.

SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors.

Cutaneous mixed tumors exhibit a wide morphologic diversity and are currently classified into apocrine and eccrine types based on their morphologic differentiation. Some cases of apocrine-type cutaneous mixed tumors (ACMT), namely, hyaline cell-rich apocrine cutaneous mixed tumors (HCR-ACMT) show a prominent or exclusive plasmacytoid myoepithelial component. Although recurrent fusions of PLAG1 have been observed in ACMT, the oncogenic driver of eccrine-type cutaneous mixed tumors (ECMT) is still unknown. The aim of the study was to provide a comprehensive morphologic, immunohistochemical, and molecular characterization of these tumors. Forty-one cases were included in this study: 28 cases of ACMT/HCR-ACMT and 13 cases of ECMT. After morphologic and immunohistochemical characterization, all specimens were analyzed by RNA sequencing. By immunohistochemistry, all cases showed expression of SOX10, but only ACMT/HCR-ACMT showed expression of PLAG1 and HMGA2. RNA sequencing confirmed the presence of recurrent fusion of PLAG1 or HMGA2 in all cases of ACMT/HCR-ACMT, with a perfect correlation with PLAG1/HMGA2 immunohistochemical status, and revealed internal tandem duplications of SOX10 (SOX10-ITD) in all cases of ECMT. Although TRPS1::PLAG1 was the most frequent fusion, HMGA2::WIF1 and HMGA2::NFIB were detected in ACMT cases. Clustering analysis based on gene expression profiling of 110 tumors, including numerous histotypes, showed that ECMT formed a distinct group compared with all other tumors. ACMT, HCR-ACMT, and salivary gland pleomorphic adenoma clustered together, whereas myoepithelioma with fusions of EWSR1, FUS, PBX1, PBX3, POU5F1, and KLF17 formed another cluster. Follow-up showed no evidence of disease in 23 cases across all 3 tumor types. In conclusion, our study demonstrated for the first time SOX10-ITD in ECMT and HMGA2 fusions in ACMT and further refined the prevalence of PLAG1 fusions in ACMT. Clustering analyses revealed the transcriptomic distance between these different tumors, especially in the heterogenous group of myoepitheliomas.

Cutaneous Mixed Tumour: A Rare Presentation of a Scrotal Lump Mimicking an Accessory Testis.

Cutaneous mixed tumour (CMT), also known as chondroid syringoma (CS), is a rare benign tumour composed of epithelial, myoepithelial, and mesenchymal components with an incidence of less than 0.01% of primary skin tumours. It is more common in males and typically presents as a painless slow-growing firm mass in the subcutis of the head and neck region. Genital regions are very rarely involved. We present the case of a 50-year-old male with a 10-year history of an asymptomatic gradually enlarging mass in the upper scrotum. A surgical excision was performed. Microscopic examination showed features of CMT. This case highlights the diagnostic challenges associated with scrotal CMT and surgical management of these lesions. Additionally, we endorse the recommended terminology of CMT used by the fifth edition of WHO Classification of Skin Tumours (2023).

Hyaline cell-rich chondroid syringoma: A potential pitfall on cytology.

Chondroid syringoma is a rare adnexal tumor of skin, with few cases diagnosed on fine needle aspiration cytology (FNAC). Hyaline cell-rich chondroid syringoma (HCRCS) is a very uncommon variant of chondroid syringoma described in histopathologic studies. This variant differs from the usual chondroid syringoma in its site of presentation, cytohistologic features, and morphologically mimics malignant neoplasms. To the best of our knowledge, cytologic features of this entity have never been described. This case report highlights some unusual features of this tumor and discusses the cytologic features of HCRCS along with neoplastic mimics.

The Rare Presentation of Multiple Chondroid Syringomas in One Patient: A Case Report.

Chondroid syringomas are rare, benign tumors originating from sweat glands occurring as singular lesions of the head and neck. This case report presents a patient in whom multiple chondroid syringoma lesions were found. Thus illuminating the possibility for such occurrences in the future of which physicians should be aware.

A Detailed Review of Surgical Management of Uncommon Cutaneous Disorders.

A variety of cutaneous disorders can present to the general surgeon either directly or by referral for surgical intervention. Some conditions are commonly seen and operated on by general surgeons which include lipoma, epidermoid cyst, etc. On the other hand, some are uncommon conditions like dermatofibrosarcoma protuberans and chondroid syringoma which require a high index of suspicion to diagnose. Most general surgeons are not familiar with the latest guidelines to treat such uncommon conditions. In this article, we provide a review of uncommon cutaneous disorders requiring surgical intervention that were encountered at our high-volume tertiary care center and a discussion about their etiology, presentation, diagnosis, management and follow-up with one case report of each condition. The objective of this article is to familiarize the general surgeon with these cutaneous disorders which though uncommon, will present in their practice at some point.

A Once-Thought Lipoma Turned Malignant Chondroid Syringoma.

Chondroid syringoma is a relatively rare benign skin appendageal tumor with an incidence of <0.098%. Malignant chondroid syringoma (MCS) arises from cutaneous sweat glands and occurs on the extremities or trunk more commonly in women with only 51 reported cases. Due to the rarity of the disease and lack of published cases of MCS, the diagnostic criteria and treatment protocols are not clear. Based on available recommendations and histological criteria, MCS was diagnosed in a previously classified elbow lipoma following increased size and pain, and skin color changes in a 65-year-old woman.

Chondroid syringoma of an upper eyelid tumor: Unusual case report.

We present the case report of a 58-year-old man with recurrent chondroid syringoma, which was histopathologically confirmed, who underwent exenteration surgery of the right eye. Furthermore, the patient was receiving postoperative radiation therapy, and presently there is no local and/or distant evidence of disease in the patient.

Benign Chondroid Syringoma on Chin: A Case Report and Literature Review.

Chondroid syringoma is a cutaneous adnexal tumor originating from sweat glands origin. It is rare in occurrence and usually benign, having an incidence of 0.01 to 0.098%. As these tumors are uncommon, their diagnosis is missed many times and are misdiagnosed. Hence in any case of facial skin swelling increasing slowly in size, this entity should be kept in mind as one of the possibilities and differential diagnosis. Histopathological examination of the excision biopsy gives the definitive confirmatory diagnosis. Surgically excising the swelling locally along with a surrounding normal tissue cuff is the standard treatment given which prevents recurrence. Hereby we present a 35-year-old case of facial chondroid syringoma having a focal component of eccrine hidrocystoma, keratinous cyst as well as syringocystadenoma papilliferum on the chin that was clinically suspected to be an epidermoid cyst or mucocele.

Chondroid syringoma of the lower back simulating lipoma: A case report.

BACKGROUND: Chondroid syringoma (CS) is a rare tumor of the apocrine or eccrine glands. CS of the lower back is rare, and its clinical manifestations are similar to those of lipoma, which is a common misdiagnosis for this disease. CASE SUMMARY: A 39-year-old woman presented with a 2-year history of an asymptomatic subcutaneous mass on the lower back. The lesions increased progressively over time. The patient denied any history. Dermatological examination showed that there was a subcutaneous mass, ranging from 3-4 cm in diameter, with a clear boundary on the lower back. The surface of the skin was smooth without ulceration or scaling. Histopathologic examination was consistent with the diagnosis of CS. CONCLUSION: CS is a rare tumor of the apocrine or eccrine glands. It usually presents as a wellcircumscribed and single subcutaneous masses. Histopathology showed the tumor was located in the dermis, with nests, sheets, and cords of basal-like cells, mucin deposition, and chondroid structures. We herein report a case of CS located in the lower back. CS of the lower back is rare, and its clinical manifestations are similar to those of lipoma, for which it is commonly misdiagnosed.

Lipomatous mixed tumor of the skin with cystic formation affecting the upper lip: A case report.

Mixed tumor of the skin (MTS) is a rare neoplasm derived from the sweat glands with a reported frequency of 0.01-0.098% among all primary skin tumors. MTS often occurs in the head and neck region and is characterized by a mixture of epithelial, myoepithelial and stromal components. MTS also shows various morphological patterns, thus the presence of variants with rare components and its rarity make the clinical diagnosis even more difficult. A 47-year-old man was referred due to a painless, slowly growing, exophytic swelling intracutaneous mass of the upper lip. Magnetic resonance imaging revealed that the mass was a solid tumor with a fatty component in the proximal portion, while the distal portion was cystic and possibly contained highly viscous fluid. The mass was located between the skin and the orbicularis oris muscle in the upper lip. Excisional biopsy was performed and the lesion showed two intriguing features: A tumor with extensive lipomatous stroma and some large cysts. It was histopathologically diagnosed as lipomatous MTS with cystic formation in the upper lip. No evident signs of recurrence were observed during follow-up. The present report describes this case and includes a brief literature review of reported cases in the lip, since MTS can be confused with various skin lesions in clinical settings due to this rarity. Recognition by clinicians of different variants of MTSs, including the present case, is important for preventing erroneous diagnosis and treatment.

Chondroid syringoma of the axilla: A potential for misdiagnosis as metastatic carcinoma on fine needle aspiration cytology.

Chondroid syringoma is a rare benign adnexal tumor and tends to occur in the head and neck region. Involvement in the axilla is very unusual, and the differential diagnosis of such presentations includes lymphadenopathy and cyst. Fine needle aspiration cytology (FNAC) is a very useful tool for the diagnosis of chondroid syringoma. The characteristic feature of chondroid syringoma in cytology is the presence of distinct biphasic cell populations of epithelial and myoepithelial cells in the chondromyxoid stroma. If the typical biphasic cellular and chondromyxoid stromal elements are not visible in smears, it may be misdiagnosed in cytology. Here, we describe a case of axillary chondroid syringoma that was initially misdiagnosed as a metastatic carcinoma by FNAC. Although chondroid syringoma rarely occurs in the axilla, it should be included among the differential diagnoses of an axillary mass. Cytopathologists need to discern the unique cytological features of chondroid syringoma and avoid misdiagnosis for prompt management of the patient.

Mixed tumour of the skin of the lower lip: A case report and review of the literature.

Mixed tumour of the skin or chondroid syringoma (CS) is a rare and mostly benign neoplasm of the sweat glands. Although CS is frequently located on varied parts of the head and neck region, the lower lip is a rarely reported site. The present report describes a case of CS of the lower lip in a 58-year-old male as an expository case to further emphasise the need for proper diagnosis, appropriate treatment and prognostic evaluation. The patient presented with a round, non-tender, slightly hard and mobile mass beneath the mucocutaneous junction of his left lateral side of the lower lip. Radiology revealed a mass measuring 11x11x7 mm3 in size at a depth of ~2 mm. Furthermore, magnetic resonance T1- and T2-weighted images showed slightly low and high signal intensities, respectively. A provisional diagnosis of benign tumour of the lower lip was made, and surgical excision biopsy taken under local anaesthesia, while considering the patient's cosmetic appearance. Histopathology demonstrated features akin to apocrine gland, chondroid and myxoid stroma consistent with the diagnosis of benign CS. No evidence of recurrence or satellites were recorded after a follow-up of nearly 2 years. Although rare, a high index of suspicion for CS among other cutaneous adnexal tumours of the lower lip is necessary. In addition, interprofessional collaboration in the management of such oral tumours could enhance patient satisfaction amid prevailing intraoral and aesthetic concerns.

Absence of TFE3 Immunoexpression in a Spectrum of Cutaneous Mixed Tumors: A Retrospective Pilot Study.

BACKGROUND: Cutaneous mixed tumors (CMTs) include benign, atypical, and malignant chondroid syringomas. This spectrum of entities is known to be a part of myoepithelial neoplasms, which display considerable genetic heterogeneity. In a previous report, a malignant chondroid syringoma (MCS) demonstrated PHF1-TFE3 gene fusion and strong TFE3 immunohistochemical (IHC) staining. The authors suggested that the MCS is genetically related to tumors with TFE3 rearrangements such as renal cell carcinoma and might have genetic heterogeneity. In this study, we aim to investigate potential TFE3 gene fusions with TFE3 IHC stain in a spectrum of CMTs. MATERIALS: Eleven benign chondroid syringoma (BCS), one atypical chondroid syringoma (ACS), and one malignant chondroid syringoma cases were identified, stained with TFE3 IHC stain, and interpreted based on preset criteria. RESULTS: ACS and MCS cases did not show any staining. In 7 of 11 BCS cases, weak (1+) staining was observed in less than 20% of the tumor cells and were considered negative. Additionally, in one BCS case, weak (1+) and (2+) staining was shown in approximately 15% and less than 1% of the tumor cells, respectively. Based on our positivity criteria, this case was also interpreted as negative. CONCLUSIONS: Our study failed to reveal possible TFE3 gene fusion by IHC staining in benign, atypical, and malignant chondroid syringomas. Although the negative staining in MCS suggests a genetic heterogeneity in this entity, further studies with larger case groups are needed for a more definitive conclusion.

Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors.

Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological diagnosis challenging. Recent findings have revealed a wide spectrum of oncogenic drivers, several of which are of diagnostic interest for pathologists. Most of these molecular alterations are represented by gene fusions, which are shared with other homologous neoplasms occurring in organs containing exocrine glands, such as salivary and breast glands, which show similarities to the sweat apparatus. This review aims to provide a synthesis of the most recent immunohistochemical and molecular markers used for the diagnosis of sweat gland tumors and to highlight their relationship with similar tumors in other organs. It will cover adenoid cystic carcinoma (NFIB, MYB, and MYBL1 fusion), cutaneous mixed tumor (PLAG1 fusion), cylindroma and spiradenoma and their carcinomas thereof (NF-κB activation through CYLD inactivation or ALKP1 hotspot mutation), hidradenoma and hidradenocarcinoma (MAML2 fusion), myoepithelioma (EWSR1 and FUS fusion), poroma and porocarcinoma (YAP1, MAML2, and NUTM1 fusion), secretory carcinoma (ETV6, NTRK3 fusion), tubular adenoma and syringo-cystadenoma papilliferum (HRAS and BRAF activating mutations). Sweat gland tumors for which there are no known molecular abnormalities will also be briefly discussed, as well as potential future developments.

Proptosis Revealing a Rare Lacrimal Gland Tumor: A Case of Chondroid Syringoma in a 35-year-old Patient.

Lacrimal gland chondroid syringoma is a very rare tumor with classic clinico-radiological symptoms that should be familiar to clinicians for appropriate patients' management as the tumor has potential for recurrence and malignant transformation. We report herein a case of chondroid syringoma in a 35-year-old patient presenting with progressive painless proptosis for 2 years. He underwent complete surgical removal of the tumor, with subsequent clinical improvement of his symptoms.