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This article reported four cases of sebaceous gland carcinoma of the eyelid with other tumors. Among them, three cases were co-occurred with other ocular tumors, two cases with visceral malignancies, and one case with chronic lymphocytic leukemia/small lymphocytic lymphoma. Immunohistochemistry and/or whole-exome sequencing confirmed that the two cases with visceral malignancies did not meet the criteria for Muir-Torre syndrome. Additionally, whole-exome sequencing was performed on two cases of sebaceous gland carcinoma of the eyelid, both revealing mutations in the ZNF750 gene. Surgical interventions included excision of the eyelid tumors in three cases and enucleation of orbital tissues and eye removal in one case. Follow-up results showed no recurrence in two cases with eyelid tumors and one case with orbital invasion, while one patient died due to peritoneal metastasis from ovarian cancer.

Purpose: Intraepithelial sebaceous gland carcinoma is a rare form of sebaceous gland carcinoma, with 10 published case reports to date. The authors report the clinical, histological, and prognostic features of this rare carcinoma., Methods: This is a multicenter retrospective case series of patients from 3 Australian sites. Information collected included patient demographics, clinical risk factors, initial and subsequent presentations, histology results, management, and outcomes., Results: Twelve cases were identified. The average age of presentation was 72 years (range 52-92 years), with more females (n = 8) affected than males. The most common symptoms and signs were ocular irritation (n = 9) and eyelid mass (n = 8), with a predilection toward upper lid involvement. Five cases of sebaceous gland carcinoma were confirmed on initial histology. Initial management included wide local excision with margin control (n = 11), and primary topical mitomycin C (n = 1). Adjunctive conjunctival mapping biopsy was performed in 5 cases. Recurrence occurred in 7 cases, at an average of 31 months (range 7-83 months) after initial treatment. There were no cases of distant metastasis, however, 2 cases developed local invasion. Management of recurrences included exenteration (n = 2), further excisions alone (n = 3), and excision with adjuvant mitomycin C (n = 2)., Conclusions: Clinicians and pathologists should have a high index of suspicion for primary intraepithelial sebaceous gland carcinoma on the upper eyelid. Close follow-up is recommended, given the high risk of local recurrence., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2024 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Purpose: Sebaceous carcinoma is the third most common nonkeratinocyte skin cancer in the United States with 1,000 cases per year. The clinicopathologic features of sebaceous carcinoma and benign sebaceous neoplasms (adenomas, sebaceomas) can overlap, highlighting the need for molecular biomarkers to improve classification. This study describes the genomic and transcriptomic landscape of sebaceous neoplasms in order to understand tumor etiology and biomarkers relevant for diagnosis and treatment., Experimental Design: We performed whole-genome sequencing (WGS) and whole-transcriptome sequencing (WTS) of sebaceous neoplasms from six academic and two federal healthcare facilities in the United States diagnosed between January 1, 1999, and December 31, 2021., Results: We evaluated 98 sebaceous neoplasms: 64 tumors (32 adenomas, 2 sebaceomas, 5 atypical sebaceous neoplasms, 25 carcinomas) had sufficient material for WGS, 96 tumors (42 adenomas, 11 sebaceomas, 8 atypical sebaceous neoplasms, 35 carcinomas) had sufficient material for WTS, and 62 tumors (31 adenomas, 2 sebaceomas, 5 atypical sebaceous neoplasms, 24 carcinomas) had sufficient material for combined WGS and WTS. Overall, we found decreased cholesterol biosynthesis and increased TP53 mutations, copy number gains (chromosome 6, 8q, and/or 18), and tumor mutation burden-high (>10 mutations/MB) in carcinomas compared to adenomas. Although diminished compared to adenomas, most carcinomas still had higher cholesterol biosynthesis than nonmalignant skin. Multiomics profiling also supported a precancerous model of tumor evolution with sebaceomas and atypical sebaceous neoplasms being likely intermediate lesions., Conclusions: The study findings highlight key diagnostic biomarkers for sebaceous carcinoma and suggest that immunotherapy and modulation of cholesterol biosynthesis could be effective treatment strategies., (©2024 American Association for Cancer Research.)

Sebaceous carcinoma (SC) is a rare neoplasm affecting periocular and extraocular sites. If inadequately treated, it can recur and cause morbidity. Specific management guidelines have not been established. Wide local excision (WLE) has been traditionally used; however, Mohs micrographic surgery (MMS) can be advantageous because of complete margin assessment and tissue-sparing nature. This analysis aims to systematically review the surgical modalities used for the management of SC. Articles meeting eligibility criteria were identified using MEDLINE (via PubMed), Embase, Cochrane, and Scopus databases. All studies investigating surgical management of SC with WLE or MMS were considered. Seventy studies met inclusion criteria, including retrospective cohort studies, case series, and case reports. WLE was used in 32 studies, MMS in 29, and MMS and WLE in 9. Subgroup analysis showed that MMS has lower recurrence rates. For WLE, local, regional, and distant recurrence rates were 23.4%, 13.3%, and 11.0%, respectively, and for MMS, 6.8%, 4.3%, and 4.6%, respectively. Patients treated with WLE were more likely to have local recurrence than patients treated with MMS (P = 0.001). WLE cases were more likely to have a regional (P = 0.05) and distant recurrence (P = 0.001). Limitations of the study include heterogeneity of case reports, case series, and retrospective studies, variable follow-up times between the two groups, and large tumors included in the WLE category. In addition, disease-specific survival was not evaluated. MMS cases showed a superior outcome for local, regional, and distant recurrence, making it a good option for the management of SC., (© 2024 the International Society of Dermatology.)

The role of aquaporin proteins (AQPs) in tumor biology has attracted attention over the past 20 years. However, the expression profiles of AQPs in canine sebaceous gland tumors remain obscure. This study was performed to clarify the expression of AQP1, 3, 5, the most studied AQPs in tumor biology, in sebaceous adenoma and sebaceous epithelioma. Among these AQPs, only AQP3 was expressed in normal tissue and both tumor types and located to only undifferentiated sebocytes (basaloid cells). A cellular proliferation marker, Ki-67, was detected only in the area including basaloid cells in both tumor types. These findings suggest that AQP3 is useful for clarifying the origin of sebaceous gland tumors, and that AQP3 may be related to sebaceous gland development.

Background. Sebaceous carcinoma in situ outside the ocular region is an exceedingly uncommon. It is an intraepidermal neoplasm originating from sebaceous glands limited to the epidermis with no invasion into the underlying dermis or beyond. Although sebaceous carcinoma in situ is predominantly observed in ocular regions, particularly the eyelids, instances of its occurrence in extraocular locations are infrequent, with only a limited number of examples reported in the literature. Case Presentation. A 63-year-old man presented with a left posterior arm lesion. Microscopic examination revealed a proliferation of poorly differentiated atypical neoplastic sebocytes confined to the epidermis with pleomorphic nuclei, prominent nucleoli, and clear cell changes. The neoplastic cells demonstrated positive staining for adipophilin, androgen receptor, epithelial membrane antigen, P63, BerEP4, and keratin 7. Microsatellite instability markers showed preserved nuclear staining for MLH1, PMS2, MSH2, and MSH6. A definitive diagnosis of sebaceous carcinoma in situ was rendered. Discussion. The distinctive histopathologic characteristics typically involve the presence of atypical sebaceous cells confined within the epidermis. Atypical cells often exhibit enlarged nuclei, increased mitotic activity, and prominent nucleoli. A panel of epithelial membrane antigen, adipophilin, and androgen receptors is essential for ensuring an accurate diagnosis. Conclusion. This report underscores the importance of considering sebaceous carcinoma in situ in diagnosis in atypical locations, emphasizing the need for a comprehensive histopathologic examination and immunohistochemical staining panel. This article aims to demonstrate the rarity of sebaceous carcinoma in situ in extraocular sites to broaden our understanding of its diverse clinical presentations., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Ocular adnexal sebaceous carcinoma (SebCA) represents one of the most clinically problematic periocular tumors, often requiring aggressive surgical resection. The pathobiology of this tumor remains poorly understood, and few models exist that are suitable for preclinical testing. The aim of this study was to establish new cell lines to serve as models for pathobiological and drug testing. With patient consent, freshly resected tumor tissue was cultured using conditional reprogramming cell conditions. Standard techniques were used to characterize the cell lines in terms of overall growth, clonogenicity, apoptosis, and differentiation in vitro. Additional analyses including Western blotting, short tandem repeat (STR) profiling, and next-generation sequencing (NGS) were performed. Drug screening using mitomycin-C (MMC), 5-fluorouricil (5-FU), and 6-Diazo-5-oxo-L-norleucine (DON) were performed. JHH-SebCA01, JHH-SebCA02, and JHH-SebCA03 cell lines were established from two women and one man undergoing surgical resection of eyelid tumors. At passage 15, they each showed a doubling time of two to three days, and all could form colonies in anchorage-dependent conditions, but not in soft agar. The cells contained cytoplasmic vacuoles consistent with sebaceous differentiation, and adipophilin protein was present in all three lines. STR profiling confirmed that all lines were derived from their respective patients. NGS of the primary tumors and their matched cell lines identified numerous shared mutations, including alterations similar to those previously described in SebCA. Treatment with MMC or 5-FU resulted in dose-dependent growth inhibition and the induction of both apoptosis and differentiation. MYC protein was abundant in all three lines, and the glutamine metabolism inhibitor DON, previously shown to target high MYC tumors, slowed the growth of all our SebCA models. Ocular adnexal SebCA cell lines can be established using conditional reprogramming cell conditions, and our three new models are useful for testing therapies and interrogating the functional role of MYC and other possible molecular drivers. Current topical chemotherapies promote both apoptosis and differentiation in SebCA cells, and these tumors appear sensitive to inhibition or MYC-associated metabolic changes.

Adenoid cystic carcinoma arising in the external auditory canal is rare, and even rarer are cases with sebaceous differentiation mimicking sebaceous carcinoma. This case with clinical, radiologic, gross, and histologic images exemplifies an unusual occurrence of adenoid cystic carcinoma in the external auditory canal with sebaceous differentiation, confirmed by MYB::NFIB fusion., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Competing Interests: Conflicts of interest None disclosed.

Purpose: To report the outcomes of platinum-based neoadjuvant chemotherapy (NACT) for eyelid and periocular sebaceous gland carcinoma (eSGC)., Methods: Retrospective study of 25 patients., Results: The mean age at presentation of eSGC was 59 years. The mean tumor basal diameter was 46 mm. By the 8th edition of AJCC classification, tumors belonged T2 (n = 2, 8%), T3 (n = 6, 24%), and T4 (n = 17, 68%); N1 (n = 12,48%); and M1 (n = 1, 4%). NACT with 5-fluorouracil (5-FU) and cisplatin/carboplatin was administered in 21 (84%)/4 (16%) patients, respectively. The mean number of cycles of neoadjuvant systemic chemotherapy per patient was 2 (median, 3). The mean percentage reduction of tumor basal volume after neoadjuvant chemotherapy was 65% (median, 60%). After NACT, 12 (48%) patients underwent surgical treatment, 6 (12%) patients underwent EBRT, and 4 (8%) underwent adjuvant chemotherapy. A total of 11 (44%) patients were lost to follow-up during the course of treatment, of whom 3 died from metastatic disease. In 16 patients followed up for ≥ 3 months, complete tumor control was achieved in 11 (69%) patients, local tumor control in 14 (88%), and globe salvage in 7 (44%) at a mean follow-up of 25 months (median, 7 months; range, 3 to 110 months). No tumor recurrence was seen in any case. One (4%) serious adverse event of cardiotoxicity was noted., Conclusion: Platinum-based NACT is a suitable option for eSGC with advanced tumors and locoregional metastasis. Adverse events are rare and in patients compliant with treatment, NACT-based combination therapy offers globe salvage and systemic tumor control., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

Here we present the first case of sebaceous carcinoma of the middle ear. We discuss the treatment course and post treatment results after 11 years of follow up. We further summarize the available literature of sebaceous carcinoma of the temporal bone, which prior to this case was exclusively limited to the external auditory canal. Laryngoscope, 134:3769-3772, 2024., (© 2024 The American Laryngological, Rhinological and Otological Society, Inc.)

Purpose: Local recurrence predicts dismal prognosis in eyelid sebaceous carcinoma (SC). Recurrence predictors vary across studies. Accurate recurrence estimation is essential for individualized therapy in eyelid SC. This study aims to identify recurrence predictors and develop a nomogram for personalized prediction in eyelid SC., Methods: We conducted a multicenter retrospective cohort study. Chart reviews were performed in 418 consecutive patients with eyelid SC. All patients were followed up after their initial surgery. Multivariate Cox regression was used to explore the independent predictors of recurrence. A nomogram for recurrence prediction was developed and validated with bootstrap resampling. The predictive accuracy and discriminative ability were compared with the Tumor, Node, Metastasis (TNM) staging system., Results: Over a median of 60-month follow-up, 167 patients (40%) had local recurrence. The median time from diagnosis to recurrence was 14 months. The 1-year cumulative recurrence rate was 18%. Diagnostic delay (hazard ratio [HR] = 1.01, 95% confidence interval [CI] = 1.00-1.01, P = 0.001), orbital involvement (HR = 4.47, 95% CI = 3.04-6.58, P < 0.001), Ki67 (HR = 1.01, 95% CI = 1.00-1.02, P = 0.008) and initial surgery of Mohs micrographic surgery with intraoperative frozen section control (HR = 0.53, 95% CI = 0.35-0.80, P = 0.003) were independent influencing factors of recurrence. A nomogram integrating these four factors combined with pagetoid spread displayed satisfactory discriminative ability (C-index = 0.80-0.83; area under the curve [AUC] = 0.82-0.84), which compared favorably than TNM staging (all P < 0.05)., Conclusions: The recurrence rate is high in eyelid SC. Early detection and primary resection with Mohs micrographic surgery are recommended in controlling recurrence. Patients with orbital involvement, high Ki67 expression, and pagetoid spread may require adjuvant measures. This nomogram offers more accurate recurrence estimates, aiding in therapeutic decision making.

Sebaceous carcinoma is a known mimicker of benign conditions, leading to frequent delays in diagnosis and proper treatment. We present two patients with chronic cicatrizing conjunctivitis initially diagnosed as ocular mucous membrane pemphigoid (MMP) and later found to have sebaceous carcinoma. Both patients presented with unilateral conjunctivitis that failed to improve with topical and systemic therapy, eventually developing fornix foreshortening and extensive symblepharon. Case 1 was diagnosed with ocular MMP based on clinical features alone, while Case 2 was diagnosed with biopsy-negative disease. Months to years later, both patients developed lid lesions found to be sebaceous carcinoma and underwent exenteration. As diagnosis and treatment of ocular MMP without positive direct immunofluorescence testing becomes increasingly accepted, clinicians should consider sebaceous carcinoma as the initial diagnosis or as a developing phenomenon during immunosuppression in the setting of chronic inflammation. A low threshold for repeat biopsy should be maintained.

Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship and/or publication of this article.

Abstract: A 77-year-old Japanese man presented to our hospital with subcutaneous tumors of the right upper arm and axilla. A biopsy revealed a cutaneous adnexal tumor, showing apocrine differentiation, and axillary lymph node metastasis. After chemoradiotherapy to shrink the tumors, both lesions were resected. A resected specimen of the arm tumor showed a variegated histology: (1) a classic sebaceoma with an organoid pattern and sebocytes; (2) a sebaceous tumor with cellular atypia; (3) a papillotubular tumor showing a biphasic pattern of pale eosinophilic cells with apocrine differentiation and basaloid cells; and (4) an invasive adenocarcinoma with a micropapillary structure, reminiscent of an invasive micropapillary carcinoma of the breast. The axillary tumor was regressed. To our knowledge, this is the first reported case of an adnexal tumor of the skin with an invasive micropapillary structure arising in a sebaceous tumor., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose: The main purpose of treatment of advanced ocular surface and periocular malignant tumors is to eradicate the tumor while trying to preserve visual function and aesthetics. Our purpose is to describe the outcome of a retrospective case series of 10 patients with advanced ocular surface and periocular tumors treated surgically in first instance and then with postoperative interventional radiotherapy (IRT/Brachiterapy)., Materials and Methods: We describe the clinicopathological features, treatments and outcome, in a retrospective case series of 10 patients with advanced tumors involving ocular surface (staging ≥ T2) and eyelids (staging ≥ T3), with involvement of periocular and/or orbit tissues. Patients were first surgically treated, most of them with incomplete excision, and then underwent a post-operative interventional radiotherapy (IRT/Brachytherapy) as an alternative to more invasive and disfiguring surgical retreatment. Tumor location, risk factors, staging, histological features, and follow-up timing were analyzed., Results: Three patients had advanced eyelid basal cell carcinomas, 2 patients were diagnosed with eyelid and conjunctival squamous cell carcinomas, 3 as sebaceous carcinomas, and 2 as primary conjunctival melanomas. The mean follow-up time from IRT to last clinical follow-up was 58.6 weeks, range 28.4-168 (median 43.65, IQR 28.9-72.9). Two patients - one with ocular surface SCC, the other with conjunctival melanoma - had a local recurrence 23.4 and 40,9 weeks after IRT, respectively. An overview of the current knowledge on adjuvant or post-operative IRT is also provided., Conclusions: IRT can be considered an effective therapeutic option to avoid more invasive surgical retreatment in advanced tumors involving eyelids and ocular surface., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Adnexal neoplasms of the eyelid encompass a wide variety of benign and malignant tumors of sebaceous, follicular, and sweat gland origin. Due to the specialized structures of the eyelid, these neoplasms present differently when compared with those of other locations. Although most dermatologists and ophthalmologists are familiar with the commonly reported adnexal tumors of the eyelid, such as hidrocystoma, pilomatrixoma, and sebaceous carcinoma, many other adnexal neoplasms have been reported at this unique anatomic site. Accurate and timely identification of these neoplasms is essential, as alterations of eyelid anatomy and function can have a negative impact on eye health, vision, and quality of life. We review the clinical and histopathologic features of common and rare eyelid adnexal neoplasms and discuss proposed treatment options., Competing Interests: Declaration of competing interest The authors declare no conflicts of interest., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Approximately 5-15% of all dermatologic malignancies manifest in the upper and lower eyelids. The primary types include basal cell carcinoma, squamous cell carcinoma, and sebaceous cell carcinoma, with Merkel cell carcinoma and melanoma following closely behind. Basal cell carcinoma predominantly affects the lower eyelid, yet various other carcinomas, melanomas, metastases, and neoplasms of diverse origins can arise on both upper and lower eyelids. Risk factors such as advanced age, smoking, and notably, exposure to UV light significantly contribute to the development of these eyelid lesions. Despite the increasing incidence, research on dermatologic eyelid malignancies remains limited. However, such study is imperative given that many systemic oncologic malignancies initially present as metastatic eyelid lesions. This paper provides an in-depth exploration of eyelid anatomy, clinical presentation, diagnosis, and treatment management.Key Points: Eyelid metastases represent less than one percent of all eyelid cancers, yet they often serve as the initial indication of an underlying systemic malignancy. Early detection and treatment is crucial in improving prognosis and quality of life for patients. Treatment options encompass a range of modalities, with Mohs surgery as the gold standard for the removal of ocular tumors. Additional treatment options include local excision as well as non-surgical interventions such as radiotherapy, cryotherapy, immunotherapy, and topical medications., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction: Sebaceous gland carcinoma (SGC) of the eyelid is an aggressive tumour with the ability to metastasise and an increased morbidity. Controversies regarding the epidemiology of this malignant eyelid tumour is widespread in the scientific literature. Western reports repeatedly describes eyelid SGC as a rare occurring tumour in general, accounting for 1%-3% of all eyelid tumours, however studies from Asia have uncovered a higher frequency of eyelid SGC including 54% of all eyelid tumours in Japan, and 43%-56% in India. We wish to retrieve observational data of eyelid SGC prevalence in proportion to total eyelid tumours, from pathological studies published worldwide to resolve this controversy., Methods and Analysis: We will search Ovid Medline, EMBASE, Cochrane Central Register of Controlled Trials, Scopus and Google Scholar to identify published reports on eyelid SGC prevalence proportions, aiming to clarify the incidence of the tumour. We will include observational clinicopathological studies reporting prevalence with confirmed histopathology. No limitations on publication date or language will be applied. Data from the individual studies and study quality will be extracted by two individual reviewers. Study quality will be assessed using the JBI Critical Appraisal Instrument for Studies Reporting Prevalence Data. Raw proportions will be transformed and pooled using a random effects model for meta-analysis. And subgroup analysis according to geography will be performed. If data are deemed unsuitable for a meta-analysis, a narrative synthesis will be presented. We will judge the certainty of evidence and present whether this has an overall effect on the results. The results may shed light on a long-standing academic disparity of the scientific literature., Ethics and Dissemination: This systematic review does not require ethical approval. The results of this proposed review will be the subject to a publication in an international peer-reviewed journal within the ophthalmic or pathological specialty., Prospero Registration Number: CRD42023487141., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Cerebriform sebaceous naevus (CSN) is a rare morphological sebaceous naevus variant and challenging to diagnose prenatally due to its flat, smooth and waxy appearance and lack of association with extracutaneous manifestations.A multigravida was referred to our tertiary obstetric unit at 24 weeks of gestation for evaluation of fetal auricular lesions. We were able to further characterise the lesions via serial obstetric ultrasound imaging with the aid of three-dimensional (3D) technology. Although the precise diagnosis prenatally was uncertain, the use of 3D technology allowed the reconstruction of the fetal cutaneous lesions for multidisciplinary assessment to facilitate the development of a neonatal management plan. The diagnosis of CSN was made postnatally on biopsy., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Sebaceous carcinoma of the breast is an extremely rare histological subtype of breast cancer, with fewer than 30 cases reported to date. Because of its extremely rare histological presentation, there are few case reports that highlight its cytological findings. In this case report, the cytomorphological features of a sebaceous carcinoma of the breast are described in detail. Cytomorphological analysis revealed atypical cells presenting predominantly as loose clusters. No tubular or papillary structures were evident in the clusters and no mucin production was observed. The diagnosis of sebaceous carcinoma of the breast requires prominent sebaceous differentiation of cells. In Papanicolaou-stained smears, the differentiated tumor cells were found within the yellowish clusters. When these yellowish clusters were observed at high magnification and shifted out of focus, the sebaceous differentiation of tumor cells could be recognized. This finding is an advantage of observing Papanicolaou-stained specimens. Like previous reports, some individual cells showing sebaceous differentiation were also observed. In cases where many yellowish clusters appear, close observation of the interior of the clusters can confirm the presence of sebaceous differentiation of tumor cells and serve as a diagnostic clue for the cytological diagnosis of sebaceous carcinoma of the breast., (© 2024 Wiley Periodicals LLC.)

Periocular sebaceous carcinoma (PSC) is a rare, aggressive, and potentially metastatic adnexal malignancy. Due to the ability of PSC to resemble several benign and malignant conditions, diagnosis is often delayed or mistaken. In addition, even with a known diagnosis, choosing the right treatment is still an open debate. For this reason, we decided to review the most up-to-date literature on PSC and propose a dedicated procedural protocol to help clinicians when dealing with PSC. A PubMed search was carried out using the terms "Sebaceous Carcinoma", "Adnexal Periocular Cancer", "Sebaceous Carcinoma AND eyelid", "Periocular Sebaceous Carcinoma", and "Ocular Adnexa". Pertinent studies published in English from 1997 up to December 2022 were compared to the selection criteria and if suitable, included in this review. Through the initial search, 84 articles were selected. Of these, 36 were included in the final study. Several papers explored different diagnostic and therapeutic strategies regarding PSC diagnosis and management. In light of the current literature review and the multidisciplinary experience of three clinical centers, a dedicated procedural protocol is proposed. PSC diagnosis may be achieved through accurate clinical evaluation, but it requires histopathologic confirmation, which can be challenging. Dermoscopy, in vivo reflectance confocal microscopy, and optical coherence tomography may facilitate PSC clinical examination, while immunohistochemistry stains may support histological diagnosis. Appropriate disease staging is necessary before choosing the treatment, as local disease requires radically different treatment compared to advanced disease. In addition, recent innovations in nonsurgical treatments, including radio-chemotherapy, immunotherapy, and targeted therapy, may be a viable option in the most challenging cases., (© 2024 the International Society of Dermatology.)

A 77-year-old Asian female with a history of left orbit exenteration and lid-sparing reconstruction for recurrent sebaceous carcinoma presented with fluid-like sensation of the left orbit. Magnetic resonance imaging (MRI) demonstrated bright T2 signal and a cyst-like cavity within the exenterated orbit. Decision was made to proceed with surgical exploration and excision. A calcified, bone-like cavity was encountered intraoperatively and removed. Histopathology revealed dense fibrous connective tissue with areas of calcification without osseous metaplasia, suggestive of retained blood in the orbit that underwent dystrophic calcification. This case report illustrates a rare occurrence of a bone-like calcific cyst following exenteration.

Sebaceous gland carcinomas are rare malignant cutaneous adnexal tumors with sebocytic differentiation. The typical predilection area is the head and neck region, where sebaceous gland carcinomas are the most common malignant adnexal tumors of the skin. According to their localization a distinction is made between periocular and extraocular sebaceous gland carcinomas. Muir-Torre syndrome (MTS) should always be ruled out if it is suspected. In terms of prognosis, sebaceous gland carcinomas are potentially aggressive tumors with a clear tendency to recur and metastasize. Only small extraocular sebaceous gland carcinomas that have been completely resected have a very good prognosis. Sebaceous gland carcinomas most frequently metastasize lymphogenously to regional or distant lymph nodes; organ metastasis occurs less frequently. Periocular sebaceous gland carcinomas have a higher metastasis rate (up to 15%) than extraocular sebaceous gland carcinomas (up to 2%). Complete micrographically controlled surgery (MCS) of the primary tumor is the therapy of first choice, regardless of periocular or extraocular localization. Adjuvant or therapeutic radiotherapy may be considered. There is currently no established standard therapy for advanced, inoperable, or metastatic sebaceous gland carcinomas. Local procedures and systemic therapies such as chemotherapy or immunotherapy can be considered. The procedure should be determined individually by an interdisciplinary tumor board. Close follow-up care is recommended for these potentially aggressive carcinomas., (© 2024 The Authors. Journal der Deutschen Dermatologischen Gesellschaft published by Wiley‐VCH GmbH on behalf of Deutsche Dermatologische Gesellschaft.)

Background: Enfortumab vedotin (EV) is an antibody-drug conjugate directed against Nectin-4 that is used to treat urothelial carcinoma. Nectin-4 is inherently expressed in the skin and adnexal structures. Since therapeutic options for cutaneous adnexal carcinomas are limited, we sought to evaluate Nectin-4 expression in adnexal carcinomas and benign adnexal neoplasms to identify tumors that are potentially targetable with EV., Methods: Eight sebaceous carcinomas (seven periocular and one lymph node metastasis), eight digital papillary adenocarcinomas, seven squamoid eccrine ductal carcinomas, eight poromas, eight trichilemmomas, and seven sebaceous adenomas were subjected to immunohistochemical staining for anti-Nectin-4 antibody. H-scores for Nectin-4 expression were calculated., Results: Benign adnexal neoplasms had a significantly lower mean (±SD) Nectin-4 H-score (142.6 ± 39.1) than did the adnexal carcinomas (198 ± 90.8; p = 0.006). Nectin-4 was expressed in 91% (21/23) of adnexal carcinomas. Sebaceous carcinomas frequently exhibited high expression of Nectin-4 (88% [7/8]), with a mean (±SD) H-score (258.1 ± 58.4) significantly higher than those for digital papillary adenocarcinomas (197.5 ± 52.5; p = 0.035) and squamoid eccrine ductal carcinomas (131.4 ± 114.1; p = 0.031). Sebaceous carcinomas also had significantly higher H-scores than did sebaceous adenomas (186.4 ± 25.0; p = 0.013)., Conclusions: Increased Nectin-4 expression in a subset of cutaneous adnexal carcinomas, particularly sebaceous carcinomas, reveals that EV is a potential therapeutic option for these tumors., (© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Abstract: Cutaneous sebaceous neoplasia comprises a spectrum of disease ranging from benign adenomas to malignant carcinomas. The hallmark of these lesions is sebaceous differentiation. However, poorly-differentiated sebaceous carcinoma (SC), which lacks significant overt sebaceous differentiation, can show morphologic overlap with a variety of other basaloid cutaneous neoplasms. The accurate classification of SC is essential not only for diagnosis, but also because of the potential association with Muir-Torre syndrome. Androgen receptor (AR) is a sensitive, but not entirely specific immunohistochemical marker that has been used for the diagnosis of SC. PReferentially expressed Antigen in MElanoma (PRAME) demonstrates strong cytoplasmic labeling of mature sebocytes and has been reported to be expressed in a variety of sebaceous neoplasms, including in the basaloid cell component. Therefore, we sought to compare the diagnostic use of cytoplasmic PRAME expression with that of AR for the distinction of SC from a cohort of basaloid cutaneous mimics; namely basal cell carcinoma, basaloid squamous cell carcinoma, pilomatricoma, cutaneous lymphadenoma, and extra-mammary Paget disease. We report that cytoplasmic PRAME expression is uncommon in poorly differentiated SC, and although specific, it shows very low sensitivity (22%). In contrast, AR was moderately sensitive (66%) and highly specific (92%) for the distinction of SC from basaloid mimics. These attributes, in addition to the nuclear expression of AR in the sebocytic and basaloid components of SC, suggest that AR is superior to PRAME for the diagnosis of SC., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Sebaceous carcinoma is a very rare malignant skin adnexal tumor that is occasionally aggressive. We have not seen a case of sebaceous carcinoma in our center in the last 10 years. It is extremely rare in Black Africans., Case Presentation: We described the case of a 55-year-old man African man who presented to our ophthalmologist with complaints of growth on the right upper eyelid for 8 months. He had surgery and chemotherapy for rectal carcinoma 6 years prior to presentation and received his last dose of chemotherapy 5 years before seeing our ophthalmologist. There was a history of spontaneous unprovoked bleeding from the lesion. He subsequently underwent surgical excision under general anesthesia. Histology of the mass showed an effaced architecture due to proliferating malignant epithelial cells disposed as trabecules, solid nests, and tongues. The microscopic features of widespread multivacuolated cytoplasm of the neoplastic cells led us to conclude that the tumor was a sebaceous carcinoma. The patient is alive and well., Conclusion: Sebaceous carcinoma is a rare malignant skin adnexal tumor in Black Africans. It can present as an eyelid mass with spontaneous bleeding. It can follow cancer chemotherapy either because of its association with other tumors in Muir-Torre syndrome or because of mutagenic effects of chemotherapeutic agents., (© 2024. The Author(s).)

Competing Interests: The authors declare no conflicts of interest.

Abstract: Lynch syndrome is an inherited condition, which increases the risk of numerous visceral malignancies and cutaneous tumors such as keratoacanthomas and sebaceous tumors. It is typically identified by immunohistochemistry of tissue taken from tumors or through genetic testing with next-generation sequencing. Diagnosing Lynch syndrome becomes more complex when the individual is mosaic for the relevant pathogenic variant. There are very few cases of this reported in the medical literature. It is even more unusual for the diagnosis to be made based on testing of a keratoacanthoma lesion. We report a case where immunohistochemistry of a keratoacanthoma helped make a diagnosis of mosaic Lynch syndrome. We will explore how mosaicism should be considered when a phenotype is strong, even if next-generation sequencing reports no pathogenic or likely pathogenic variant and how lesions such as keratoacanthomas can have a role in the early detection and treatment of future malignancies., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Primary sebaceous and lipid-rich carcinomas are extremely rare. Sebaceous carcinoma cells are large and oval with light, partially vacuolated cytoplasm. The second population consists of cells located mainly on the peripheral parts of tumour beaches. Those cells are of smaller calibre and are fusiform in appearance. Lipid- rich carcinoma is made up of multiple cell populations. The predominant cell type is with a distinctly light, vacuolated, and partially optically clear cytoplasm. Pathohistological analysis may be overlapping. On one side there is a tumour with a relatively excellent prognosis, and on the other, a highly aggressive carcinoma with a tendency for early metastases.

Background: Malignant tumors of the eyelid are much less frequent than benign eyelid alterations. These are frequently incidental findings without symptoms which are often overlooked or misinterpreted by patients., Objective: This article gives an overview of clinical aspects, diagnostics and treatment of the five most common malignant eyelid tumors and exemplarily explains the essential principles of evidence-based treatment of malignant eyelid tumors., Methods: This narrative review was prepared based on a selective literature search. The depiction of the treatment of eyelid tumors is supported by illustrations of clinical cases., Results: The medical history and inspection provide initial indications of malignancy. Every eyelid change suspected of being malignant should be examined histologically to confirm a diagnosis. By far the most common malignant eyelid tumor in Europe is basal cell carcinoma, which metastasizes only in exceptional cases. Squamous cell carcinomas, sebaceous adenocarcinomas, melanomas and Merkel cell carcinomas occur much less frequently. In these cases, potential metastasis in particular must be considered when making the diagnosis and staging has to be initiated. Surgical excision into healthy tissue with tumor-free margins is the gold standard for malignant eyelid tumors. Non-surgical adjuvant or neoadjuvant forms of evidence-based treatment can be initiated based on the individual case to minimize the risk of recurrence and metastasis., Conclusion: It is essential to recognize eyelid changes at an early stage, to classify them correctly and to initiate the appropriate treatment. The interaction between the general condition and the personal needs of a patient as well as state of the art medicine are the keys to a good personalized treatment., (© 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

The role of neoadjuvant chemotherapy (NACT) in eyelid and orbital malignancies is not well defined. It has been tried with good success in cases of eyelid sebaceous gland carcinoma but there is very limited literature on its role in cases of ocular surface squamous neoplasia. A 54-year-old man presented with gradually increasing swelling of the right upper eyelid for the past 2 years. On examination, a large friable papillary mass was found covering the entire conjunctival surface (T3N0M0). Incisional biopsy from the mass was suggestive of papillary squamous cell carcinoma. There was no lymph node or distant metastasis as confirmed by whole-body positron emission tomography-CT scan. A trial of NACT (3 cycles of paclitaxel and cisplatin) was given and the mass shrunk in size considerably making it amenable to surgical resection. The conjunctival surface healed completely and there was no recurrence at 1 year of follow up. NACT can be tried in unresectable large ocular surface neoplasia to make the tumor more amenable to surgical resection., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2023 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Sebaceous carcinoma (SC) is a very rare and aggressive form of skin cancer that arises from the sebaceous glands. SC can occur anywhere on the body, but most commonly affects the head and neck, especially the upper eyelid. SC is the third most common malignancy of the eyelid and has the potential to metastasize and be fatal; therefore, it is vital for dermatologists to remain acquainted with this malignancy and its most current treatment options. Most commonly presenting as a painless lump or thickening of skin on the eyelid, SC has an insidious progression that may not prompt the patient to seek medical attention immediately. To avoid the potential of metastasis, early diagnosis and treatment is paramount. To assess if the cancer has spread, ophthalmology, imaging, and sentinel lymph node biopsy are recommended. This article provides a comprehensive review of SC's pathogenesis, current diagnostic methods, and treatments, including wide local excision, Mohs micrographic surgery, orbital exenteration, radiation, and other topicals. The prognosis of SC depends on several factors, including size, location, stage, and treatment method. After treatment of the neoplasm, diligent post-treatment surveillance remains the cornerstone of patient care. Continued dermatologic follow-ups are essential for early detection of reoccurrence, ensuring timely intervention and optimal long-term outcomes. In conclusion, this comprehensive review aims to equip dermatologists and other physicians with a nuanced understanding of SC, enabling them to provide effective care to support patients encountering this malignancy., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background. Carcinoid-like pattern in basal cell carcinoma is extremely rare and has only been documented in a textbook. The aim of this study is to reveal the characteristics of the carcinoid-like pattern in basal cell carcinoma as well as to establish the concept of the tumor pattern. Methods. Of 355 basal cell carcinoma cases (355 lesions of 308 patients), 11 tumors with histopathological features of carcinoid-like pattern were retrieved. Results. The patients included 5 males and 6 females with a median age of 73 years (range 38-86 years). Of the 11 lesions, 10 were observed on the head. Histopathologically, a carcinoid-like pattern with branching and anastomosing of trabecular structures was observed in 30% to 95% of the tumor area. No differentiation to sebocytes was observed in any of the tumors. The tumors were well-circumscribed, although 3 lesions contained an infiltrative-type component as well. The carcinoid-like pattern areas in all 11 lesions exhibited diffuse BerEP4 immunoexpression but no KIT, synaptophysin, or vimentin expression. Keratin 20-positive Merkel cells were not observed in the tumor areas. Conclusions. Basal cell carcinoma can show a carcinoid-like pattern cell arrangement. Based on the histopathological and immunohistochemical findings from our study, we collectively conclude that the carcinoid-like pattern in basal cell carcinoma does not seem to represent sebaceous mantle differentiation. Carcinoid-like pattern basal cell carcinoma can be distinguished from other tumors by the favorite site of the head, the co-existence of conventional basal cell carcinoma components, lack of sebaceous differentiation, and diffuse BerEP4 immunoexpression., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: Sebaceous carcinoma (SC) is a rare, potentially recurrent, and life-threatening cutaneous malignancy that can be associated with Muir-Torre syndrome (MTS), a DNA mismatch repair-driven genodermatosis. Earlier studies examining factors associated with recurrence have focused on periocular tumors only., Objective: Examine outcomes of SC and identify factors associated with recurrence., Materials and Methods: Retrospective study from 2 tertiary care centers., Results: Sixty-seven cases from 63 patients were identified, including 7 cases of MTS and 13 arising in the context of immunosuppression. Fifty-five cases (82.1%) were treated with complete circumferential peripheral and deep margin assessment (CCPDMA) methods. Five recurrences developed during the postoperative period. On univariate analysis, periocular location (odds ratio [OR] 7.6, p = .0410), and lesion size ≥2 cm (OR 9.6, p = .005) were associated with recurrence, whereas CCPDMA (OR 0.052, p = .0006) was inversely associated with recurrence. On multivariate analysis, only lesion size ≥2 cm (OR 9.6, p = .0233) and CCPDMA approaches (OR 0.052, p = .007) were significant., Conclusion: Non-complete circumferential peripheral and deep margin assessment methods and large lesion size were independent risk factors predicting recurrence, whereas anatomic subtype and MTS status were not. These findings can assist in identifying SC cases that may benefit from more aggressive treatment and closer surveillance., (Copyright © 2023 by the American Society for Dermatologic Surgery, Inc. Published by Wolters Kluwer Health, Inc. All rights reserved.)

Personalized medicine aims to develop tailored treatments for individual patients based on specific mutations present in the affected organ. This approach has proven paramount in cancer treatment, as each tumor carries distinct driver mutations that respond to targeted drugs and, in some cases, may confer resistance to other therapies. Particularly for rare conditions, personalized medicine has the potential to revolutionize treatment strategies. Rare cancers often lack extensive datasets of molecular and pathological information, large-scale trials for novel therapies, and established treatment guidelines. Consequently, surgery is frequently the only viable option for many rare tumors, when feasible, as traditional multimodal approaches employed for more common cancers often play a limited role. Sebaceous carcinoma of the eyelid is an exceptionally rare cancer affecting the eye's adnexal tissues, most frequently reported in Asia, but whose prevalence is significantly increasing even in Europe and the US. The sole established curative treatment is surgical excision, which can lead to significant disfigurement. In cases of metastatic sebaceous carcinoma, validated drug options are currently lacking. In this project, we set out to characterize the mutational landscape of two sebaceous carcinomas of the eyelid following surgical excision. Utilizing available bioinformatics tools, we demonstrated our ability to identify common features promptly and accurately in both tumors. These features included a Base-Excision Repair mutational signature, a notably high tumor mutational burden, and key driver mutations in somatic tissues. These findings had not been previously reported in similar studies. This report underscores how, in the case of rare tumors, it is possible to comprehensively characterize the mutational landscape of each individual case, potentially opening doors to targeted therapeutic options.

Sebaceous carcinoma is a rare cutaneous malignancy which is typically regarded as relatively aggressive and has traditionally been subdivided into periorbital or extraorbital tumours. We conducted a retrospective review of all cases of sebaceous carcinoma reported to the Western Australian Cancer Registry between 1987 and May 2019. The incidence of sebaceous carcinoma in Western Australia has increased over the last three decades, with extraorbital tumours being much more common than periorbital tumours. Very few sebaceous carcinomas have led directly to the death of patients; however, adverse outcomes were more likely with periorbital tumours, in particular local recurrence and the need for major surgical intervention., (© 2023 The Authors. Australasian Journal of Dermatology published by John Wiley & Sons Australia, Ltd on behalf of Australasian College of Dermatologists.)

Background: This observational study aims to describe and compare histopathological, architectural, and nuclear characteristics of sebaceous lesions and utilized these characteristics to develop a predictive classification approach using machine learning algorithms., Methods: This cross-sectional study was conducted on Iranian patients with sebaceous tumors from two hospitals between March 2015 and March 2019. Pathology slides were reviewed by two pathologists and the architectural and cytological attributes were recorded. Multiple decision tree models were trained using 5-fold cross validation to determine the most important predictor variables and to develop a simple prediction model., Results: This study assessed the characteristics of 123 sebaceous tumors. Histopathological findings, including pagetoid appearance, neurovascular invasion, atypical mitosis, extensive necrotic area, poor cell differentiation, and non-lobular tumor growth pattern, as well as nuclear features, including highly irregular nuclear contour, and large nuclear size were exclusively observed in carcinomatous tumors. Among non-carcinomatous lesions, some sebaceoma and sebaceous adenoma cases had features like high mitotic activity, which can be misleading and complicate diagnosis. Based on multiple decision tree models, the five most critical variables for lesion categorization were identified as: basaloid cell count, peripheral basaloid cell layers, tumor margin, nuclear size, and chromatin., Conclusions: This study implemented a machine learning modeling approach to help optimally categorize sebaceous lesions based on architectural and nuclear features. However, studies of larger sample sizes are needed to ensure the accuracy of our suggested predictive model., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Purpose: The immune microenvironment of sebaceous neoplasms (SNs) has been poorly explored, especially in benign lesions, and never correlated to the mismatch repair (MMR) status., Methods: We conducted an immuno-histological study to analyze the immune microenvironment of SNs. A tissue microarray was constructed including sebaceous adenomas (SAs), sebaceomas (Ss) and sebaceous carcinomas (SCs) to performed immuno-histological analysis of T cells, B cells, macrophages, dendritic cells, and expression of Programmed Death-1 (PD-1) and Programmed Death Ligand 1 (PD-L1). An automatized count was performed using the QuPath® software. Composition of the cellular microenvironment was compared to the aggressiveness, the MMR status, and to Muir-Torre syndrome (MTS)., Results: We included 123 SNs (43 SAs, 19 Ss and 61 SCs) for which 71.5% had a dMMR phenotype. A higher infiltration of macrophages (CD68 +) of M2 phenotype (CD163 +) and dendritic cells (CD11c +) was noticed in SCs compared to benign SNs (SAs and Ss). Programmed cell death ligand-1 but not PD-1 was expressed by more immune cells in SCs compared to benign SNs. No difference in the immune cell composition regarding the MMR status, or to MTS was observed., Conclusion: In SNs, M2 macrophages and dendritic cells infiltrates are associated with the progression and the malignant transformation of tumors. High PD-L1 expression in immune cells in SCs is an argument for the use of immunotherapy by anti-PD1 or PD-L1 in metastatic patients. The lack of correlation between the composition of immune cells in SNs and the MMR status emphasizes the singularity of SNs among MMR-associated malignancies., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)