Search Results (8)

Introduction: Cutaneous adnexal tumours are a heterogeneous group of tumours arising from the adnexal structures of the skin. These include follicular, eccrine, apocrine, and sebaceous lineages. These entities display a wide morphological spectrum with overlapping histopathological features, posing significant diagnostic challenges. This study aims to provide a detailed analysis of these neoplasms. Materials and Methods: We conducted a retrospective observational study including patients with primary cutaneous adnexal tumours diagnosed in excisional specimens at our centre between 2018 and 2025. Results: A total of 82 primary cutaneous adnexal tumours were analysed in patients aged 24–90 years. A female predominance was observed (62.19%), with a mean age of 56 years among female patients and 60 years among male patients. The head and neck region was the most frequently affected site (70.73%), followed by the upper limb, thorax, and lower limb. Sweat gland tumours markedly outnumbered follicular tumours (79.27% vs. 20.73%), with hidrocystomas and spiradenomas representing the most common benign lesions. Most tumours were benign (91.46%), while atypical spiradenoma (3.66%) and malignant tumours such as eccrine porocarcinoma, trichilemmal carcinoma, and basal cell carcinoma arising in association with trichoblastoma (4.88%) were rare but clinically significant findings. Surgical specimen volumes varied significantly by anatomical site, with scalp and limb lesions reaching the largest dimensions. Margin status differed according to biological behaviour, with malignant tumours showing greater proportion of close or infiltrated margins, while margins were non-assessable in all three atypical cases. Immunohistochemical evaluation supported diagnostic confirmation in atypical and malignant cases. Conclusions: Our findings highlight the broad clinical and morphological spectrum of cutaneous adnexal tumours and contribute data from an Eastern European cohort. This study adds regional data to the limited literature on the clinicopathological distribution of cutaneous adnexal tumours and emphasises rare, atypical, and malignant diagnostic scenarios. Full article

Background and Clinical Significance: Spiradenoma is a rare benign skin adnexal tumor with unknown incidence and prevalence, typically affecting young to middle-aged adults without a sexual predilection. Case Presentation: A 59-year-old woman presented with a palpable lesion in the suprapubic region that had been there for 20 years and had become enlarged over the past 2 months. Physical examination revealed a firm, non-tender, subcutaneous mass, approximately 2 cm in size, in the right pubic region. Ultrasound revealed a hypoechoic, heterogeneous lesion with a well-defined border, measuring 2.37 × 0.94 × 1.67 cm, without hypervascularity. Therefore, the patient underwent excision of the subcutaneous tumor. The pathology report confirmed the diagnosis of spiradenoma of the pubis. Histochemistry showed that the inner luminal cells were positive for CK7, and the outer basaloid cells were positive for p63. CD56 and CD117 were focally positive. Conclusions: With an accurate diagnosis and appropriate surgical excision, the prognosis for spiradenoma is generally excellent. However, a long-term follow-up is advisable. Full article

Background: Tumor collision is a rare event, with an estimated incidence of 0.0017%. Seborrheic keratosis, melanocytic nevi, and basal cell carcinoma (BCC) are by far the most common entities involved in collisions. Most authors consider collision to be an incidental event. I planned a retrospective study comparing BCC/apocrine–sebaceous–follicular unit (ASFu) neoplasm collisions with squamous cell carcinoma (SCC)/ASFu neoplasm collisions. Materials and methods: Files from 2005 to 2017 from Dr. José Molina Orosa Hospital were assessed; in the review, cases of collisions between BCCs or SSCs and ASFu tumors, including cysts, were identified. Results: Out of 3247 BCC cases, 12 biopsies were retrieved. Of 825 biopsies, none belonged to the SCC group. The ASFu tumors that collided with a BCC were as follows: four hidrocystomas, three infundibular cysts, two steatocystomas, two trichilemmomas, one spiradenoma, and one clear-cell hidradenoma (one patient had two cysts associated with a BCC). These cases correspond to seven female patients and five male patients aged between 26 and 91 years old. A quarter of these patients were immunosuppressed. Most ASFu neoplasms were found to be located beneath the BCC (8/12). Discussion: To the best of my knowledge, this report describes three new collisions of BCCs with ASFu neoplasms (infundibular cysts, steatocystomas, and a spiradenoma). My results also suggest that immunosuppression could be a factor that predisposes a patient to these collisions. I review current hypotheses in an effort to explain these collisions and contribute some new theories. Full article

Aim of the report: Brooke–Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the growth of cylindromas, spiradenomas, trichoepitheliomas, or their combination. These neoplasms usually begin in the second decade and progressively increase in number and size over the years. Diagnosis necessitates consideration of family history, clinical examination, histological findings, and genetic analysis. The aim of this paper is to explore the clinical overlap between Brooke–Spiegler syndrome (BSS) and neurofibromatosis type 1 (NF1). We aim to highlight the challenges associated with their differential diagnosis and emphasize the lack of standardized diagnostic criteria and treatment approaches. Case presentation: Hereby, we introduce the case of a 28-year-old male referred for suspicion of neurofibromatosis type 1 (NF1) who initially declined the recommended surgical excision for a scalp mass. After four years, he returned with larger masses of the scalp, and underwent excision of multiple masses, revealing cylindromas, spiradenomas, and spiradenocylindromas. Family history reported similar tumors in his father, who was also diagnosed with NF1 for the presence of multiple subcutaneous lesions on the scalp. Clinical overlap led to a genetic consultation, but testing for CYLD mutations yielded no significant variations. Despite this, the strong family history and consistent findings led to a revised diagnosis of Brooke–Spiegler syndrome, correcting the initial misdiagnosis of NF1 syndrome. Conclusions: Thanks to the evolving landscape of BSS research over the past two decades, its molecular underpinnings, clinical presentation, and histopathological features are now clearer. However, a thorough family history assessment is mandatory when BSS is suspected. It is our belief that a multidisciplinary approach and cooperation between specialists are essential when dealing with BSS. By sharing this case, we hope to underscore the importance of considering BSS as a differential diagnosis, especially in cases with atypical presentations or overlapping features with other syndromes like NF1. Full article

(1) Background: Spiradenocarcinoma is an extremely rare malignant adnexal tumor and there are only few studies on survival outcomes. Our aim was to perform an analysis of the demographic and pathological characteristics, treatment patterns, and survival outcomes of patients affected by spiradenocarcinoma. (2) Methods: The Surveillance, Epidemiology, and End Results program database of the National Cancer Institute was searched for all cases of spiradenocarcinoma diagnosed between 2000 and 2019. This database is considered representative of the US population. Demographic, pathological, and treatment variables were retrieved. Overall and disease-specific survival were computed according to the different variables. (3) Results: 90 cases of spiradenocarcinoma (47 females, 43 males) were identified. Mean age at diagnosis was 62.8 years. Regional and distant disease at diagnosis were rare, occurring in 2.2% and 3.3% of cases, respectively. Surgery alone was the most frequent treatment (87.8%), followed by a combination of surgery and radiotherapy (3.3%) and radiation therapy only (1.1%). Five-year overall survival was 76.2% and five-year disease-specific survival was 95.7%. (4) Conclusions: Spiradenocarcinoma equally affects males and females. Regional and distant invasion rates are low. Disease-specific mortality is low and is probably overestimated in the literature. Surgical excision remains the main form of treatment. Full article

Neoplasms of sweat glands and the breast may be morphologically and immunophenotypically similar. A recent study showed that TRPS1 staining is a highly sensitive and specific marker for breast carcinoma. In this study, we analyzed TRPS1 expression in a spectrum of cutaneous sweat gland tumors. We stained five microcystic adnexal carcinomas (MACs), three eccrine adenocarcinomas, two syringoid eccrine carcinomas, four hidradenocarcinomas, six porocarcinomas, one eccrine carcinoma-NOS, 11 hidradenomas, nine poromas, seven cylindromas, three spiradenomas, and 10 syringomas with TRPS1 antibodies. All of the MACs and syringomas were negative. Every cylindroma and two of the three spiradenomas demonstrated intense staining in cells lining the ductular spaces, with negative to relatively weak expression in surrounding cells. Of the 16 remaining malignant entities, 13 were intermediate to high positive, one was low positive, and two were negative. From the 20 hidradenomas and poromas, intermediate to high positivity was revealed in 14 cases, low positivity in three cases, and negative staining in three cases. Our study demonstrates a very high (86%) expression of TRPS1 in malignant and benign adnexal tumors that are mainly composed of islands or nodules with polygonal cells, e.g., hidradenomas. On the other hand, tumors with small ducts or strands of cells, such as MACs, appear to be completely negative. This differential staining among types of sweat gland tumors may represent either differential cells of origin or divergent differentiation and has the potential to be used as a diagnostic tool in the future. Full article

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. Full article

Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, most commonly: cylindromas, trichoepitheliomas and spiradenomas. Case presentation: We present four cases of Brooke–Spiegler Syndrome found in our clinic, as well as their clinicopathological traits and the surgical techniques used in their management. The familial history of three of the presented cases supports the genetic component of the disease. Cylindromas, spiradenomas and trichoepitheliomas coexisted in one of the cases presented. The therapeutic options used were electrocautery, CO2 laser, as well as tumor debulking followed by closure with metal staples. Discussion: The treatment remains a challenge and must be individualized based on the type, location and number of the lesions. Conservative methods such as CO2 laser and tumor debulking accompanied by closure with metal staples remain a viable option taking into account the large number of lesions. As patients usually develop multiple neoplasms throughout their lifetime, repeated procedures may be needed. Conclusion: Considering the few numbers of Brooke–Spiegler syndrome cases in the current literature, the authors report these patients in order to increase awareness and to help establish the most appropriate approach in managing the disease. Full article