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To examine the usefulness and safety of cryotherapy for residual tarsus and free tarsal graft implantation for eyelid reconstruction after excision of malignant eyelid tumor.Fifteen patients with 17 eyelid malignancies (10 sebaceous gland carcinomas and 7 basal cell carcinomas) who underwent eyelid reconstruction between June 2017 and February 2021 were included in the study. In these patients, the tumors were resected in the entire eyelid layer including the safety margin. Only sebaceous gland carcinomas patients underwent cryotherapy at the residual tarsus margin. Then, a free tarsal graft taken from the ipsilateral or contralateral upper eyelid was transplanted into the eyelid plate defect, and anterior lamella reconstruction was performed with an orbicularis oculi myocutaneous advance flap.In both the non-cryotherapy and cryotherapy groups, there were no serious complications such as dropout or necrosis of the free tarsal graft. There were no differences in the occurrence of complications such as eyelid retraction or trichiasis between the 2 groups, but 1 patient who underwent cryotherapy required revision surgery to correct eyelid retraction. In addition, there were no complications on the donor side associated with free tarsal graft collection.The use of a free tarsal graft in the reconstruction of eyelid malignancies is relatively effective and safe, and if vascular support of the anterior lamella is obtained, cryotherapy is less likely to affect the viability of the free tarsal graft and may contribute to a decrease in local recurrence.

There is a scarcity of information regarding the clinical characteristics of rare cutaneous malignancies in skin of color that has yet to be comprehensively explored.To review and compile the racial differences in epidemiology, clinical presentation, histology, treatments, and outcomes of 3 rare skin cancers: dermatofibrosarcoma protuberans (DFSP), Merkel cell carcinoma (MCC), and sebaceous carcinoma (SC).Several searches with keywords denoting specific skin cancer type and race were conducted on PubMed to complete this narrative review.We analyzed 50 sources that were relevant to the initial objective.The literature demonstrates that there are nuances in DFSP, MCC, and SC unique to African Americans, Asians/Pacific Islanders, and Hispanics that may differ significantly from Caucasian counterparts. African Americans consistently suffer from the worst clinical outcomes in all 3 rare cutaneous malignancies reviewed. Greater physician awareness and knowledge of the discussed racial differences is the preliminary step to address these disparities.

Sebaceous carcinoma (SC) is a rare malignant neoplasm with sebaceous differentiation. SC is classified into eyelid and extraocular SC clinically. Most studies have focused on the eyelid SC in terms of pathogenesis, treatment, and prognosis. In skin, Wnt/beta-catenin and hedgehog signaling are two major pathways in sebaceous differentiation. We aimed to characterize the clinical and histopathological features of extraocular SC and to measure the expression of beta-catenin, lymphoid enhancer-binding factor 1 (LEF1), sonic hedgehog (Shh), and protein patched homolog 1 (PTCH) in extraocular SC. Ten cases of extraocular SC were identified from 2007 to 2020. The clinical features, microscopic findings, and prognosis were analyzed. Immunohistochemical stain for beta-catenin, LEF1, Shh, and PTCH were performed in extraocular SC and other benign sebaceous tumors including sebaceous hyperplasia, sebaceous adenoma, and sebaceoma. The male:female ratio was 4:6. The median onset age was 73.5 years (range, 43-88). Seven patients out of 10 were diagnosed after 60 years. Most extraocular SC were located on the head and neck with indurated plaque. Two patients had concurrent internal cancers and three patients showed lymph node metastasis at time of presentation. Five-year overall-survival was 40%. Beta-catenin was expressed membranously in all sebaceous hyperplasia, but was expressed variably in extraocular SC (1/5). While LEF1 was unequivocally expressed in normal hair follicles, LEF1 expression was absent in all extraocular SC and benign sebaceous tumors. Regarding the sonic hedgehog signaling, Shh and PTCH were all expressed in the cytoplasm of sebaceous hyperplasia, sebaceous adenoma, and sebaceoma. In contrast, PTCH was absent in all cases of extraocular SC and only 50% of the extraocular SC expressed cytoplasmic Shh. To conclude, extraocular SC commonly affects facial skin in the elderly. Inactivated Wnt/beta-catenin and aberrant hedgehog pathway may contribute to the carcinogenesis of extraocular SC. Further studies may be required to elucidate the causative mechanism of these pathways in extraocular SC.

To investigate the relationship between epidermal growth factor receptor (EGFR) expression and clinicopathological characteristics in sebaceous carcinoma (SbC) of the eyelid.Clinical records and microscopic slides of 102 cases of SbC in the eyelid were reviewed. An immunohistochemical antibody for EGFR was employed. Differentiation, pagetoid spread, and mitosis were evaluated.Of the 102 patients, 46 (45.1%) cases were male and 56 (54.9%) cases were female (male:female, 1:1.2). The mean age of the patients was 57.32 ± 13.23 years (range, 26-85 years). Fifty-two (51%) cases occurred in the right eye and 50 (49%) cases in the left eye. The stage T1 and stage T2 cases were 71 (69.6%) and 31 (30.4%), respectively. There were 69 (67.6%) cases with pagetoid spread and 33 (32.4%) cases without pagetoid spread. There were 15 (14.7%) well-differentiated cases, 33 (32.4%) moderately differentiated cases, and 54 (52.9%) poorly differentiated cases. There was 1 (1%) case of 0 to 1/ high power field (HPF) mitosis, 46 (45.1%) cases of 2 to 5/HPF mitoses, and 55 (53.9%) cases of5/HPF mitoses, respectively. The EGFR positivity of SbCs was 97.1% (99 cases) with 2% (2 cases) weak expression, 46.1% (47 cases) moderate expression, and 49% (50 cases) strong expression. While EGFR was weakly positive only in a few conjunctival epithelial cells and basal cells of the sebaceous glands. The EGFR expression of SbCs was related to the clinic T category statistically ( P = 0.048) but not related to age, gender, differentiation, nuclear mitosis, and pagetoid spread of these tumors statistically ( P0.05). And the differentiation of these SbCs was related to the mitosis of these tumors statistically ( P0.001).The EGFR expression of SbCs was related to the tumor stage statistically, which implied that EGFR might be used as a prognostic marker of SbCs. EGFR is expressed in most SbC cases, which implied that it might act in the tumorigenesis mechanisms of SbC and could be a therapeutic target in the treatment of SbC for some metastatic cases.

BACKGROUND: Sebaceous carcinoma (SC) is a rare malignant tumour whereby, comprehensive long-term data are scarce. This study aimed to assess the outcome of patients treated with resection for SC.METHODS: Patients treated at four tertiary centres were included. Cumulative incidence curves were calculated for recurrences.RESULTS: A total of 100 patients (57 males, 57%) were included with 103 SCs. The median age was 72 (range, 15-95) years with a median follow-up of 52 (interquartile range [IQR], 24-93) months. Most SCs were located (peri)ocular (49.5%). Of all SCs, 17 locally recurred (16.5%) with a median time to recurrence of 19 (IQR, 8-29) months. The cumulative incidence probability for recurrence was statistically higher for (peri)ocular tumours (p = 0.005), and for positive resection margins (p = 0.001). Two patients presented with lymph node metastases and additional seven patients (8.7%) developed lymph node metastases during follow-up with a median time to metastases of 8 (IQR, 0.5-28) months. Three patients had concurrent in-transit metastases and one patient also developed liver and bone metastases during follow-up.CONCLUSION: SC is a rare, yet locally aggressive tumour. Positive resection margins and (peri)ocular SCs are more frequently associated with local recurrence. SC infrequently presents with locoregional or distant metastases.

Sebaceous carcinoma of the vulva is a rare malignancy of the sebaceous glands, with potentially aggressive behaviour, that is usually found in the peri-ocular area. Nonetheless, there are sebaceous glands in the vulva and this diagnosis is especially rare, with only ten cases described in the literature. We report a case of 78-year-old female patient who presented with vulvar pruritus, previously treated with topical steroid and antifungal treatments, without improvement. The vulvar examination showed a visible yellow papule, 12 x 10 mm on the right major labia, which was biopsied and the microscopic examination revealed an invasive sebaceous carcinoma of the vulva, with an in situ component. We performed an uneventful excisional biopsy, followed by a subsequent margin widening. Three months after the diagnosis, she presented with the first recurrence. Two and half years after the diagnosis, she recurred with a larger lesion (13 mm) in the upper half of small right lip, more than 10 mm away from the midline. In a multidisciplinary meeting it was decided that the patient should undergo partial right vulvectomy with homolateral inguino-femoral sentinel node biopsy (one negative node). There was no evidence of recurrence one-year post-surgery.

Sebaceous carcinomas (SC) are rare tumors and are currently classified into ocular and extraocular variants. Both variants of SC have very different clinical behavior and different histomorphologic appearance; however, published data are confounding as literature describes prognosis of both variants is similar or even that extraocular variants are more aggressive. In this study we evaluated the clinical and the histopathology of ocular and extraocular SC to confirm the difference between them. We performed a retrospective review of SC in which we studied the clinical and histomorphologic features of 106 cases, including 39 cases of ocular SC and 67 cases of extraocular SC. Only 2/67 cases of extraocular SC had multiple recurrences and none of them metastasized as opposed to our cases of ocular SC wherein 21/39 cases were locally aggressive with multiple recurrences and 5 cases metastasized. Histologically, both neoplasms showed major distinct morphologic features including poor differentiation in cases of ocular SC and well-differentiated tumors in the extraocular anatomic sites. To the best of our knowledge, this is the first case series of SC that compares the clinicopathologic features of ocular and extraocular variants. Awareness of such discrepancy is key to understand this disease and to possibly diagnose and manage these patients accordingly.

Adnexal carcinomas and sebaceous neoplasms are rare malignant neoplasms that are derived from eccrine and apocrine sweat glands or the pilosebaceous unit. Distinction of these neoplasms is essential, as treatment, workup, and prognosis varies widely among subtypes. For this comprehensive review, apocrine, eccrine, follicular, and sebaceous neoplasms are discussed. For each neoplasm, a review of clinical presentation, classic histologic findings, and management recommendations is provided.

Radiation therapy may be performed for a variety of cutaneous malignancies, depending on patient health status, tumor clinical and histologic features, patient preference, and resource availability. Dermatologists should be able to recognize the clinical scenarios in which radiation therapy is appropriate, as this may reduce morbidity, decrease risk of disease recurrence, and improve quality of life. The second article in this 2-part continuing medical education series focuses on the most common indications for radiation therapy in the treatment of basal cell carcinoma, cutaneous squamous cell carcinoma, dermatofibrosarcoma protuberans, Merkel cell carcinoma, Kaposi sarcoma, angiosarcoma, cutaneous lymphoma, melanoma, undifferentiated pleomorphic sarcoma, and sebaceous carcinoma.

Sebaceous carcinoma is a malignant neoplasm that usually arises in the sebaceous glands of the eyelids. Its pathogenesis is unknown; however, irradiation history, immunosuppression, and use of diuretics are known risk factors. The mainstay of treatment for sebaceous carcinoma of the eyelid is wide surgical resection with a safety margin of 5 to 6 mm, which often results in full-thickness defects. The reconstruction of a full-thickness defect of the eyelid should be approached using a three-lamella method: a mucosal component replacing the conjunctiva, a cartilage component for the tarsal plate, and a flap or skin graft for the skin of the eyelid. In this case, a fullthickness defect of the upper eyelid was reconstructed after tumor removal using a combination of a nasal septum chondromucosal composite graft and a forehead transposition flap, also known as a “Fricke flap.” The flap was designed to include a line of the eyebrow on the lower margin of the flap to replace the eyelash removed during tumor excision. The wound healed completely, without any early or late complications, and the outcome was satisfactory.

Ocular sebaceous carcinoma (OSC) is a malignant and potentially lethal sebaceous gland tumor. Clinically, it masquerades as other benign and less malignant lesions, resulting in a delay in diagnosis.In the present study, we sought to evaluate the cytomorphology of this aggressive neoplasm diagnosed by fine-needle aspiration cytology (FNAC) last year at our institute.We report three cases of OSC diagnosed on aspiration cytology showed a cellular smear composed of sheets, 3D clusters, papillaroid, and singly scattered polygonal tumor cells having centrally located hyperchromatic pleomorphic nuclei and multiple microvacuolations in the cytoplasm. Necrosis and crushing artifact were also identified. Special stains such as Oil Red O stain on air-dried smears showed positivity, confirming the presence of lipid globules. Subsequently, the Cytological impression of sebaceous carcinoma was confirmed on histopathology.The article highlights the role of FNAC in the early and correct diagnosis of aggressive tumors and subsequent appropriate management to prevent recurrence and metastasis.

Sebaceous adenocarcinoma (SAC) mostly occurs in the elderly, and SAC in young and middle-aged population is inadequately investigated.To explore the clinical features and prognosis of young and middle-aged adults with SAC.Patients with skin SAC between ages 18 and 59 years from the Surveillance, Epidemiology, and End Results database (1975-2016) were eligible for this study.Seven hundred thirty-nine cases were identified. The proportion of extraocular SAC in the nonelderly increased from 1975-2005 to 2006-2016 ( p = .001), male predominance was observed in overall patients whereas female predominance in Asian population, and young patients had more head and neck SAC than middle-aged patients ( p = .014). The prognosis of young patients was better than middle-aged patients ( p = .004). Other independent prognostic factors included sex, marital status, tumor size, surgery, chemotherapy, and multiple primary cancer history.An increasing proportion of extraocular SAC was observed in young and middle-aged patients, and the young developed more head and neck SAC than the middle-aged. Female predominance was found in Asian population, and female patients had better prognosis. Younger age and married status indicated better prognosis, and around 20% of young and middle-aged patients might have poorer survival because of Muir-Torre syndrome.

Background: Collision tumors are rare clinical entities that two heterogeneous neoplasms are concurrently adjacent to each other at the same location. The association of a squamous cell carcinoma and a malignant adnexal tumor is even infrequent. Case presentation: The case of a 79-year-old woman having a slow-growing and painless tumor on the left lower eyelid was presented. The lesion, about 15 mm in diameter, was nodular, irregular, and yellow-discolored. Histopathologic and immunohistochemical findings disclosed concurrence of sebaceous carcinoma as well as squamous cell carcinoma in one specimen. Wide excision of the tumor with frozen section control and eyelid reconstruction were performed. Oncologic survey revealed no other lesion. At 6-month follow-up, no evidence of recurrence or metastasis was presented. Conclusion: Collision tumor composed of sebaceous carcinoma and squamous cell carcinoma in eyelid may be the first case described in the literature. For increasing accuracy of diagnosis and management, a thorough clinical examination and detailed histopathologic analysis, along with multidisciplinary discussion, are prerequisites.

We and others have noticed consistent staining of sebaceous glands with PReferentially expressed Antigen in MElanoma (PRAME). We aimed to determine whether PRAME was as sensitive, specific, and interpretable as adipophilin for distinguishing sebaceous neoplasms (SNs) from other neoplasms.Twenty SNs and 32 control cases were stained for PRAME and adipophilin. Extent of staining was scored as follows: 0, no staining; 1,5% positivity; 2, 5% to 50% positivity; and 3,50% positivity. Intensity was scored as negative, weak, moderate, or strong. A composite score was determined by adding the scores for extent and intensity.PRAME had positive composite scores in all 20 SNs in the more differentiated areas, whereas adipophilin had positive composite scores in 19/20 cases. PRAME showed positivity in the basaloid cells in 15/16 cases, whereas adipophilin was positive in 14. Among controls, PRAME and adipophilin had positive composite scores in 3/32 cases and 6/32 cases, respectively.PRAME and adipophilin are comparable in terms of distribution and intensity for staining sebocytes. In the basaloid cells, PRAME expression is often more diffuse and easier to detect than adipophilin. In comparing the SNs to the controls, PRAME was more sensitive and more specific than adipophilin. PRAME could be used as an additional marker of sebaceous differentiation in everyday practice.

Purpose To investigate the usefulness of the reverse Hughes flap procedure combined with a sandwich graft of an acellular dermal matrix for reconstruction of large full-thickness defects of upper eyelids after cancer excision. Methods Clinical data were obtained from patients who underwent upper eyelid reconstruction using a reverse Hughes flap combined with a sandwich graft of an acellular dermal matrix (AlloDerm) as a tarsal substitute. The tarsoconjunctival flap of the donor lower eyelid was mobilized to reconstruct the posterior lamella, and acellular dermal matrix was grafted onto the tarsoconjunctival flap. A skin-orbicularis muscle flap superior to the defect was advanced to cover the acellular dermal matrix graft, followed by application of lid crease formation sutures to prevent postoperative entropion. The tarsoconjunctival pedicle was divided 3-8 weeks after the surgery. Results Six patients with sebaceous carcinoma were included, and all had ≥70% full-thickness upper eyelid defects after tumor excision. After a median follow-up of 40 months (range 6-62 months), all 6 showed satisfactory functional and cosmetic outcomes. Tumor recurrence, exposure keratopathy, upper eyelid entropion, persistent use of bandage contact lenses, lower eyelid deformity, and dermal matrix-related complications were not observed by the last follow-up. Conclusions Reverse Hughes flap combined with a sandwich graft of an acellular dermal matrix as a tarsal substitute was successful in reconstructing large upper eyelid defects. Acellular dermal matrix graft and lid crease formation sutures enhance marginal stability and prevent postoperative entropion of the reconstructed upper eyelid.

This case highlights the successful use of pembrolizumab for neoadjuvant treatment of MMR-deficient sebaceous carcinoma of bilateral eyelids to reduce tumour burden allowing smaller defect post-Mohs surgery and better reconstructive outcome. Microsatellite stability, tumour mutational burden and PD-L1 expression are important prognostic factors to be considered for the use of neoadjuvant pembrolizumab. Further studies are needed to determine if neoadjuvant pembrolizumab consistently improves surgical and cosmetic outcomes and reduces local recurrence and metastasis.

Background To investigate the correlation between the clinical and pathological characteristics and outcomes in patients with eyelid malignant tumors underwent wide local excision. Methods This retrospective study included 141 cases of eyelid malignant neoplasms from January 2010 to December 2015 in Shanxi eye hospital. Demographic and clinical information were collected. The Kaplan–Meier method was used to calculate survival curves, and the log-rank test method was used to compare survival between groups. Cox proportional regression models were used to calculate the hazard ratios (HR) of total recurrence rate and metastasis rate. Results Overall, there were 141 eyelid malignant neoplasms cases aged 65.34 ± 9.69 (range, 41—88) years old. The duration time range was from 1 to 828 (61.09 ± 122.21) months. Basal cell carcinoma (BCC) is the most common of all eyelid malignancies, accounting for 84 (59.5%), followed by Sebaceous gland carcinoma (SGC, 41, 29%), Squamous Cell Carcinoma (SCC, 11, 7.8%), Malignant Melanoma (MM, 3, 2.1%)。On cox-regression analysis, pathological classification (HR 1.959; 95% CI 1.012–3.790; p = 0.046) and eyelid tumor surgery history (HR 17.168; 95% CI 1.889–156.011; p = 0.012) were independently associated with recurrence in patients with eyelid malignant neoplasm. Pathological classification (HR 2.177; 95% CI 1.423 -3.331; p Conclusion Wide local excision is an effective and economical treatment for eyelid malignant neoplasms. The prognosis is mainly related to pathological types, eyelid tumor surgical history and TNM stages.

Pseudocarcinomatous desmoplastic trichoepithelioma (PDTE) features verrucous squamous epidermal hyperplasia with a jagged undersurface overlying cords of follicular germinative cells in a fibrotic stroma. To date, only 5 cases have been reported. We identified 7 new PDTEs from 2 institutions and reviewed their clinical manifestations and immunohistochemical profile. The median age was 14 years (range 8-34 years). New findings included vacuolization of the basal layer of the pseudocarcinomatous surface epithelium, and the frequent presence of singly distributed sebocytes within the cords of basaloid cells. The immunohistochemical profile resembles desmoplastic trichoepithelioma, with expression of TDAG51, CK15, and Ber-Ep4. Colonizing CK20+ Merkel cells were present in all cases. PDTE needs to be differentiated from malignant neoplasms such as squamous cell carcinoma, morphoeic basal cell carcinoma, and microcystic adnexal carcinoma. Recognizing the features of this sclerosing folliculosebaceous neoplasm facilitates accurate diagnosis and avoids overtreatment.

Background Primary cutaneous gamma-delta T-cell lymphoma (PCγδTCL) and primary cutaneous aggressive epidermotropic T-cell lymphomas (PCAETCL) are rare aggressive cytotoxic cutaneous lymphomas (CyCL) often difficult to diagnose. Histopathologically, PCAETCL and PCγδTCL may resemble mycosis fungoides (MF) and the presence of adnexotropism in CyCL (CyCL) contributes to this diagnostic challenge, especially in the setting of atypical and double-negative phenotypes. Methods In this retrospective study clinical data and histopathological section of 91 patients were analyzed for signs of clinical and histopathological signs adnexotropism. Results Adnexotropism was identified in 48.4% (44/91) of cases, including PCAETCL (40.9%, 18/44), PCγδTCL and cytotoxic cutaneous lymphomas, not otherwise specified (CyCTCL, NOS) (43.2%, 19/44 and 15.9%, 7/44). Comparison between disease-related mortality with Kaplan-Meier survival analysis of non-adnexotropic vs adnexotropic CyCL did not show any significant difference between the two groups (P = 0.8). Clinically they present with patches, plaques, and tumors and commonly with ulceration, but follicular prominence or alopecia are rare. Clinical signs of adnexotropism such as alopecia and hypo- or anhidrosis were rarely seen. Conclusion Adnexotropism is a common finding in CyCL, especially in PCAETCL. Adnexotropic CyCL may be histopathologically difficult to distinguish from folliculotropic mycosis fungoides. A comprehensive IHC panel should be routinely performed in such cases.

Background: Electrochemotherapy (ECT) combines the administration of anticancer drugs with the delivery of electric pulses, thus increasing the drug uptake through the cell membranes, resulting in increased efficacy. Aim: The aim of our study was to describe the tolerability and efficacy of ECT alone or in association with other treatment modalities for the management of apocrine gland anal sac adenocarcinoma (AGASAC). Methods: Medical records of dogs with a diagnosis of AGASAC that were treated with ECT alone or in combination with surgery/chemotherapy were retrospectively evaluated. Each dog received 20 mg/m2 of bleomycin intravenously. Based on the clinician’s decision, the primary tumor or tumor bed was also infiltrated with cisplatin at the dose of 0.5 mg/cm2. Trains of permeabilizing biphasic electric pulses were then applied under general anesthesia. Results: Ten dogs were enrolled in the study. Of those 10 dogs, only one received ECT for treatment of microscopic local disease, while in six cases ECT was the only treatment modality. In three dogs, ECT was followed by systemic medical treatment. Six dogs (60%) had a partial response (PR), three dogs (30%) had stable disease, and one dog treated for microscopic disease did not show any sign of local relapse for 305 days after treatment, being still alive and in complete remission at the time of writing this article. The median time to progression was 303 days and the median survival time was 365 days. The treatment was well tolerated and local side effects were minimal. No systemic effects were documented. Conclusion: This preliminary study suggests that ECT may be beneficial for dogs with AGASAC and could be a useful addition to the current therapeutic options in consideration of its low cost, limited toxicity, and ease of administration.

Sebaceous carcinoma (SC) is a rare tumor, accounting for approximately 0.7% of skin cancers. SC can be classified as ocular SC (OSC) or extraocular SC (EOSC) depending on its location. Because EOSC accompanied by metastases is rare, there is a paucity of data about EOSC accompanied by metastasis. This study presents a case of an aggressive EOSC of the scalp with lymph node metastases. The patient underwent wide local excision of the primary tumor with a 1 cm safety margin and bilateral radical lymph node dissection. However, recurrence was observed 1 month after surgery. Radiation therapy and resection were performed for the recurrent tumor. However, distant metastases to both lungs eventually occurred. Here, we describe a rare recurrent case of EOSC of the scalp with distant organ metastasis with a review of the literature.

Pathogenic variants inTP53have been classically thought to cause Li-Fraumeni syndrome (LFS), a cancer predisposition with high risks for various childhood- and adult-onset malignancies. However, increased genetic testing has lately revealed, that pathogenic variant carriers exhibit a broader range of phenotypes and that penetrance may be dependent both on variant type and modifiers. Using next generation sequencing and short tandem repeat analysis, we identified germline pathogenic variants inTP53andRAD51Clocated incison chromosome 17 in a 43-year-old male, who has developed a rare sebaceous gland carcinoma (SGC) but so far no tumors of the LFS spectrum. This course mirrors aTrp53-Rad51c-double-mutantcismouse-model, which similarly develops SGC, while the characteristicTrp53-associated tumor spectrum occurs with significantly lower frequency. Therefore, we propose that co-occurent pathogenic variants inRAD51CandTP53may predispose to SGC, reminiscent of Muir-Torre syndrome. Further, this report supports the diversity of clinical presentations associated with germlineTP53alterations, and thus, the proposed expansion of LFS to heritableTP53-related cancer syndrome.

Sebaceous carcinoma is a rare malignant tumor of the sebaceous glands. Sebaceous carcinoma occurs mainly in the head and neck region, rarely in trunk. Case report: We present a case report of 63-year-old patient, operated on for sebaceous carcinoma in the right breast area. The patient underwent radical surgery, removal of the tumor with the skin, subcutaneous tissue, and the large pectoral muscle. The patient is in good clinical condition eight months after the surgery. She is being constantly monitored and so far, there are neither signs of local recurrence nor tumor progression. Conclusion: Patients with rare tumors should be treated comprehensively with subsequent lifelong dispensarisation in specialized centers. Multidisciplinary medical teams are able to eruditely diagnose, recognize, treat and dispense patients.

To prospectively assess the impact of expert pathological review of skin adnexal carcinoma diagnosis in France.From 2014 to 2019, 2573 samples from patients with newly diagnosed or suspected skin adnexal carcinomas were reviewed prospectively by expert pathologists through the national CARADERM (CAncers RAres DERMatologiques) network. Changes in diagnosis between referral and expert review were analysed regarding their potential impact on patient care or prognosis.The samples comprised 2205 newly diagnosed adnexal carcinomas, 129 benign adnexal tumours, 136 basal cell carcinomas, 74 squamous cell carcinomas, six cutaneous metastases and 13 other malignancies. There were 930 (42%) sweat gland carcinomas, of which porocarcinoma (261; 11.8%), microcystic adnexal carcinoma (125; 5.7%) and hidradenocarcinoma (109; 4.9%) were the most frequent subtypes; 778 (35%) hair follicle carcinomas, 238 (11%) sebaceous carcinomas and 212 (10%) extramammary Paget diseases/mammary-like anogenital gland adenocarcinomas. A diagnostic change between referral and expert review occurred in 503 (21.3%) patients, significantly higher for cases sent with a provisional diagnosis seeking an expert second opinion (45.7%) than for cases sent with a formal diagnosis (2.8%) (p .0001). Sweat gland carcinomas were more prone to diagnostic discrepancies than other tumours (p .0001), including 1.8% of patients with sweat gland carcinoma subtype misclassification with predicted clinical impact. Changes between benign and malignant conditions occurred in 117 samples (5% of patients).The study provides a unique description of the distribution of skin adnexal carcinomas and highlights the importance of expert review for these rare cancers. Optimal clinical management was impacted in a significant proportion of patients.

OBJECTIVE: To analyze the prognosis of cutaneous adnexal malignancies, survival relative to surgical management, and utility of lymph-node biopsy. DESIGN: Population-based study of the SEER-18 database from 1975 to 2016. PARTICIPANTS: 7591 patients with sweat gland carcinoma, hidradenocarcinoma, spiradenocarcinoma, sclerosing sweat duct tumor/microcystic adnexal tumor (SSDT/MAC), porocarcinoma, eccrine adenocarcinoma, and sebaceous carcinoma RESULTS: Five-year OS ranged from 68.0 to 82.6%, while 5-year DSS ranged from 94.6 to 99.0%. The majority of patients were treated with narrow (42.4%) or wide local excision (16.9%). DSS at 5 years showed that patients with stage IV had significantly poorer survival (50.3%) than I, II, or III (99.3%, 97.8%, and 89.0% respectively). 5-year OS was significantly higher for narrow excision (excision with < 1 cm margin, 78.5%) than observation (65.0%), excisional biopsy (66.8%), or wide local excision (WLE, 73.2%). Lymph-node biopsy was performed in a minority of cases (8.1%) and patients showed no significant difference in survival based on nodal status. The sensitivity and specificity of lymph-node biopsy for all malignancies were 46% and 80%, respectively. The PPV and NPV for that group were 0.46 and 0.80, respectively. Invasion of deep extradermal structures was a poor predictor of nodal positivity. CONCLUSIONS: These malignancies have excellent DSS. Narrow excisions demonstrate better 5-year DSS and OS compared with WLE. Lymph-node biopsy is a poor predictor of survival in advanced stage disease and utility is limited.

Purpose To evaluate the clinical features, diagnostic challenges, management, and prognosis of sebaceous carcinoma (SC) of the eyelids and periocular region in a Nordic country. Methods Patients were identified from the Finnish Cancer Registry and the Helsinki University Hospital databases during the 21-year period 1998-2018. Age, sex, location, clinical and histopathologic diagnosis, treatment and outcome were registered. Results Sebaceous carcinoma (SC) was diagnosed in 32 patients. The incidence was 0.6 per million. Median age at the time of histopathologic diagnosis was 74 years, and 72% of patients were women. Diagnostic delay was often long, median 12 months. The most common cause for delay was misdiagnosis (72%): a chalazion in 34% and a benign tumour in 22%. The most common location was the upper eyelid (53%) and tumour type a solitary nodule (94%). The SC was not correctly diagnosed in 12 (40%) of 30 preoperative biopsies. The treatment for 31 (97%) patients was complete surgical removal with reconstruction. Conjunctival intraepithelial growth was found in 50%. The leading postoperative problem was ocular irritation (30%). During a median follow-up of 58 months, two patients (6%) experienced a local recurrence and one patient died from metastatic SC. Conclusions The estimated incidence of SC in Finland was somewhat higher than in other Western countries. The diagnosis was often markedly delayed. Especially differentiation from chalazion continues to be essential. To improve outcomes, it is essential to inform the pathologist about the possibility of SC in eyelid biopsies and specimens and ideally submit them to an ophthalmic pathology service.

Extraocular sebaceous carcinoma (ESC) is a rare appendiceal skin tumor. In contrast to ocular sebaceous carcinoma, information about the exact cellular architecture of these lesions is scarce and the histogenesis of ESC is unknown. Here, we extend our previous study and investigate 28 extraocular carcinomas in comparison to 54 benign sebaceous tumors and 8 cases of normal sebaceous glands using a broad spectrum of antibodies against p63, several keratins, adipophilin, EMA, Ki67, androgen receptor, and mismatch repair proteins. This observational study demonstrates that p63- and K5/14-positive basaloid cells are key cells in normal sebaceous gland and in all sebaceous tumors and that these basaloid cells give rise to EMA+, adipophilin+ sebocytes, and K5/14+, K7±, K10± ductal structures. Finally, about half of ESC is associated with superficial in situ neoplasia, which provides evidence that at least part of these carcinomas arises from flat superficial in situ carcinoma. In contrast to the normal sebaceous gland, about half of all sebaceous tumors lack keratin K7. MMR protein IHC-profiles role will be discussed.

Sebaceous carcinoma is a rare malignant skin neoplasm arising from sebaceous glands. Its clinical diagnosis is difficult and reports of dermoscopic findings have been limited. This study aims to analyze its dermoscopic features and differential diagnosis in dermoscopic examination. The study included patients diagnosed with histologically proven sebaceous carcinomas as well as diagnosed cases of sebaceous hyperplasia, sebaceoma, squamous cell carcinoma and basal cell carcinoma for comparison of dermoscopic findings. The dermoscopic criterion of presence of sebaceous carcinoma was scored only if the two evaluators reached a consensus. Fifteen cases of histologically diagnosed sebaceous carcinoma were included in our study. All cases were extraocular sebaceous carcinoma. A total of 60 (15 basal cell carcinomas, 15 squamous cell carcinomas, 15 sebaceous hyperplasias and 15 sebaceomas) cases were collected for comparing dermoscopic features with sebaceous carcinoma. In dermoscopic analysis of sebaceous carcinoma, the majority of tumors (66.67%) presented polymorphic vessel pattern. Other features included whitish-pink areas (80%), yellowish structures (73.33%) and yellowish structureless areas (60%). Yellowish structures in sebaceous carcinomas are the main dermoscopic findings to differentiate squamous cell and basal cell carcinomas (P < 0.001), whereas purplish globules, shiny white blotches and strands and whitish-pink area distinguish sebaceous carcinomas from other sebaceous tumors (P < 0.05).

BackgroundImmune checkpoint blockade strategies have gained attention in the treatment/prognosis of cancers by targeting the programmed death-1 (PD-1)/programmed death-ligand 1 (PD-L1) pathway alone or in combination with cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) blockade and are currently in clinical trials. The present study investigated the expression of the PD-1, PD-L1, CTLA-4, CD4 and CD8 proteins and their prognostic value in the tumour microenvironment of sebaceous gland carcinoma (SGC).MethodsThe expression levels of PD-1, PD-L1, CTLA-4, CD4 and CD8 proteins were assessed in 52 cases of SGC by immunohistochemistry and validated by western blotting. mRNA expression was measured by quantitative real-time PCR. Kaplan-Meier curves and Cox proportional hazard models were used to analyse the correlation of protein expression with clinicopathological parameters and disease-free survival.ResultsThe expression of PD-L1 was found to be higher in tumour cells than in stromal cells. In univariate analysis, the expression of PD-1 in tumour-infiltrating lymphocytes (tPD-1) and PD-L1 in tumour cells was associated with reduced disease-free survival, whereas PD-L1 expression in stromal lymphocyte infiltration (sPD-L1) was associated with the increased survival of patients (pConclusionOur study highlights the prognostic outcome of PD-1 and PD-L1 protein expression in cells of tumour–stromal compartments. These results indicate that the PD-1/PD-L1 pathway mediates important interactions within the tumour microenvironment in SGC.

Purpose Sebaceous carcinoma can be highly malignant and difficult to treat. Surgical excision followed by periocular reconstruction is the primary method of treatment. In aggressive cases, radiation, topical chemotherapy, and systemic chemotherapy have been explored as adjuvant therapy. Immunotherapy, through immune checkpoint inhibitors, has proven to have significant antitumor effect in many cancer types, including melanoma, non-small cell lung cancer, renal cell carcinoma, and cutaneous squamous cell carcinoma. Little is known about endogenous immune response directed against sebaceous carcinoma. In this study, we aim to characterize the expression pattern of PD-1 and its ligands PD-L1 and PD-L2 in both sebaceous carcinoma and in infiltrating immune cells to explore the potential use of checkpoint blockade as therapy. Methods We performed a retrospective chart and histology review of patients with sebaceous carcinoma between 1990 and 2017 at the University of Wisconsin. Tissue microarrays were made from paraffin blocks. Immunohistochemistry was performed for evaluation of tumor and immune cell infiltration for expression of PD-1, PD-L1, and PD-L2. Tumor or infiltrating immune cells were considered positive if ≥5% of cells had membranous (cell surface) expression. Results Twenty-eight patients were included. PD-L1 and PD-1 were not significantly expressed on tumor cells; however, PD-L1 and PD-1 were expressed on infiltrating immune cells in 46% and 25% of patients, respectively. In contrast, PD-L2 demonstrated positive expression on tumor cells in 46% of the cases along with positive expression on infiltrating immune cells in 38% of the cases. Conclusions Sebaceous carcinoma currently has few effective adjuvant treatment options. The expression of PD-1, PD-L1, and PD-L2 on infiltrating immune cells and PD-L2 on tumor cells restrains T-cells from full activation and proliferation, therefore limiting the antitumor effect of T-cells, tipping the balance toward unopposed tumor progression. Consequently, PD-1 or PD-L1 inhibitors may have a role in sebaceous carcinoma treatment. Given the prevalence of PD-L2 expression in sebaceous carcinoma and the lack of PD-L2 blockade therapy available, PD-1 blockade may provide benefit over PD-L1 inhibitors. PD-1 blockade in combination with current methods may be a viable therapeutic option for patients with sebaceous carcinoma and deserves further study.Sebaceous carcinoma of the ocular and periocular regions showed expression of immune checkpoint ligands PD-1, PD-L1, and PD-L2, which suggests PD blockade may provide benefit as an adjuvant therapy for patients with sebaceous carcinoma.

To evaluate the effect of direct cell injury of cryotherapy on eyelid sebaceous gland carcinoma cells by an ex vivo cryotherapy experiment.It was a prospective interventional case series. Six patients with biopsy-proven nodular sebaceous gland carcinoma were included. After excision of the mass, a thin slice of the mass resembling the thickness of the conjunctiva was shaved off and was oriented over the broad end of a tissue forceps. Cryotherapy was applied to both its anterior and posterior aspects by the triple freeze-thaw technique. The mass was then labeled and sent separately for histopathological evaluation by fixation and staining.A total of six patients with a mean age of 58.2 ± 15.5 years were included. There were four females and two males. The mean duration of the lesion was 21.6 ± 17.51 months. All patients had involvement of the upper eyelid. The patients were clinically staged as T2b (n=2), T1a (n=2), T2c (n=1), and T3a (n=1) respectively. There was no regional lymphadenopathy or metastasis in any of the cases. The experimental cryo-tissue containing the cryo-treated lesion revealed the presence of viable tumor cells (50%) in all six specimens.The direct cell injury caused by cryotherapy may not be sufficient to kill all the residual sebaceous gland carcinoma cells on the tumor bed.

Made available in DSpace on 2022-05-01T12:25:12Z (GMT). No. of bitstreams: 0 Previous issue date: 2022-01-01 Faculdade de Medicina Universidade Estadual Paulista, SP Faculdade de Medicina Universidade Estadual Paulista, SP

Myeloid sarcoma (MS) is a rarely encountered extramedullary localized tumor that is composed of immature myeloid cells. We reported an extremely rare case of MS with concurrent bone marrow (BM) involvement that invaded into a preexisting sebaceous lymphadenoma in the parotid gland and neck lymph nodes. Prompted by this case, we also present a literature review of MS invasion into salivary glands. A 62-year-old man was initially diagnosed with carcinoma that arose in a sebaceous lymphadenoma in the parotid gland, through a total parotidectomy with neck dissection. After an extensive histopathological review that included immunohistochemistry, a pathologic diagnosis of MS with infiltration into the sebaceous lymphadenoma with concurrent BM involvement was confirmed. MS is difficult to diagnose accurately; herein, we analyzed the clinical presentations and effectiveness of the various diagnostic methods with a review of the literature. There are 17 cases, including our case, reported in 13 studies. Of the cases in which the salivary glands were affected, 10 involved the parotid gland, six involved the submandibular gland, and one involved both. Isolated invasion of the salivary gland was found in one case of parotid gland invasion and three cases of submandibular gland invasion. In 13 cases, the salivary glands were affected by various other lesions. Although there were no incidences of isolated MS, six patients were diagnosed with secondary MS and eight patients with MS with BM involvement, including this case. The diagnosis of MS is difficult given its rarity, and a high index of suspicion and integrated radiologic and careful histopathologic evaluation are required. Most cases of MS infiltrating the salivary gland might be indicated by the possibility of BM involvement. MS with BM involvement predicts poor prognosis and the need for intensive systemic treatment.

The use of immunostain for PRAME antigen is well established for cutaneous melanolocytic lesions. However, its staining in other cutaneous structures and lesions is under reported. This study assessed PRAME staining in a large cohort of normal skin tissue, sebaceous lesions, and cutaneous carcinomas to better delineate patterns of PRAME immunoreactivity. PRAME immunostaining was performed on sections of sebaceous lesions and tissue microarrays of basal cell carcinomas (BCCs) and squamous cell carcinomas (SCCs). Normal cutaneous adnexal structures were assessed on the sections of sebaceous lesions. For sebaceous lesions and non-lesional sebaceous glands, PRAME immunostaining was assessed for mature, germinative and sebocytes independently. A total of 193 sebaceous lesions, 64 BCCs and 35 SCCs were stained for PRAME immunostain. Staining pattern was predominantly cytoplasmic in normal apocrine glands, germinative sebocytes of sebaceous glands, and hair germs (p0.001). Lesional sebocytes did not show different staining compared to normal sebaceous glands (p0.05). Rare nuclear staining was observed in the normal epidermis (0.6%) and junctional melanocytes (4.1%). BCC, SCC and sebaceous carcinoma all showed low levels of PRAME immunoreactivity with variable proportions of cases demonstrating nuclear staining (BCC 59.4%, SCC 37.1%, sebaceous carcinoma 5.3%). PRAME immunostaining is positive in germinative sebocytes, various cutaneous structures and carcinomas. Nuclear staining, identical to melanoma, was observed in normal epidermis, junctional melanocytes, BCCs, SCCs, and sebaceous carcinomas. The pattern of PRAME staining in the skin must be recognised to avoid pitfalls in interpretating PRAME immunostain.

We are presenting a case of a 74-year-old female with a parotid gland mass. Fine-needle aspiration (FNA) of the mass demonstrated cohesive groups of epithelial cells with overall bland-appearing nuclei and abundant vacuolated cytoplasm, consistent with sebaceous cells, in a background of polymorphous lymphocytes, scattered histiocytes, and adipose tissue. Immunostains showed that the epithelial cells stain positive for p63, but negative for CD117 and DOG-1. CD3 and CD20 showed a mixture of T- and B-cells. On the PAP-stained slides, there were numerous sac-like structures, consistent with myospherules. These findings were suggestive of neoplasm with sebaceous differentiation. The main differential diagnosis included sebaceous adenoma, sebaceous lymphadenoma, and other benign lesions with sebaceous differentiation. The parotid mass was resected. Histology sections demonstrated a well-circumscribed neoplasm with multicystic epithelial component and surrounding lymphoid infiltrate, consistent with sebaceous lymphadenoma. Sebaceous lymphadenoma (SLA) is a rare benign salivary gland neoplasm that is most commonly seen in the parotid gland. Preoperative FNA diagnosis of sebaceous neoplasms is challenging. To the best of our knowledge, this is the third case of sebaceous lymphadenoma diagnosed preoperatively. In this manuscript, we detail the epidemiological characteristics and histogenesis of sebaceous salivary gland neoplasms, and the cytomorphologic differential diagnosis of SLA with key diagnostic features of each entity.

To clarify the incidence and demographic characteristics of malignant eyelid tumors diagnosed in a single institute in Japan.Retrospective, observational case series METHODS: Patients with malignant eyelid tumors diagnosed histopathologically at Tokyo Medical University Hospital between 1995 and 2019 were reviewed retrospectively. The incidence and demographic profile of malignant eyelid tumors were analyzed. The number of benign eyelid tumors diagnosed histopathologically during the same period was also counted.A total of 412 patients with histopathologically proven malignant eyelid tumors were included. The most common malignant eyelid tumor was sebaceous carcinoma (n = 180, 44%), followed by basal cell carcinoma (n = 148, 36%), squamous cell carcinoma (n = 35, 9%), lymphoma (n = 28, 7%), Merkel cell carcinoma (n = 11, 3%) and others (n = 10, 2%). Mean age of all patients with malignant eyelid tumor at the time of diagnosis was 71.0 ± 13.0 years. For sebaceous carcinoma, the proportion of female patients was significantly higher than that of male patients (P = 0.0283) and the proportion of involvement of upper eyelid was significantly higher than that of lower eyelid (P = 0.0001). On the other hand, there was no sex predominance in basal cell carcinoma and squamous cell carcinoma. The proportion of involvement of lower eyelid was significantly higher than of upper eyelid in basal cell carcinoma (P = 0.001) and squamous cell carcinoma (P = 0.0012). There were 1433 patients with benign eyelid tumors accounting for 78% of all eyelid tumors during the study period.Sebaceous carcinoma is the major malignant eyelid tumor in Japan and is more frequent in women than in men. Epidemiology of malignant eyelid tumors may be affected by the trend of population age structure associated with the recent population aging.

Due to the lack of tumor suppressor function of the fragile histidine triad (FHIT) gene product, sebaceous gland carcinomas can develop.The model of the sebocyte cell line SZ95 was used to identify methylated CpG islands at the 5'-end of the FHIT gene and the decrease of gene expression as well as the increase of double-stranded (ds) DNA breaks were examined.Methylation, immunofluorescence analysis, promotor sequencing and treatment of SZ95 cells with 5‑azacytidine/trichostatin A (TSA).The cultivation was accompanied by an increasing methylation of the CpG islands, a decrease of the FHIT gene expression and an accumulation of ds-DNA breaks. Treatment with 5‑azacytidine/TSA showed a decrease in DNA methylation and a re-expression of FHIT transcripts.Epigenetic changes in the cellular genome are caused by in vitro cell culture. Consequently, a positive selection of sebocytes with an epigenetically inactivated FHIT locus occurs.HINTERGRUND: Fehlt die Tumorsuppressorfunktion des fragilen Histidin-Trias(FHIT)-Genprodukts, so können Talgdrüsenkarzinome entstehen.Am Modell der Sebozytenlinie SZ95 sollten methylierte CpG-Inseln am 5′-Ende des FHIT-Gens identifiziert, die Abnahme der Genexpression und die Zunahme von DNA-Doppelstrang(ds)-Brüchen untersucht werden.Methylierungs‑, Immunfluoreszenzanalysen, Promotorsequenzierung sowie Behandlung der SZ95-Zellen mit 5‑Azacytidin/Trichostatin A (TSA).Die Kultivierung der Sebozyten verlief mit einer zunehmenden Methylierung der CpGs, einer Abnahme der FHIT-Genexpression sowie Anhäufung von DNA-ds-Brüchen. Die Behandlung mit 5‑Azacytidin/TSA zeigte eine Abnahme der DNA-Methylierung sowie Re-Expression von FHIT-Transkripten.Durch In-vitro-Zellkultur werden epigenetische Veränderungen im zellulären Genom hervorgerufen. Es folgt eine positive Selektion von Sebozyten mit epigenetischer Inaktivierung des FHIT-Genorts.

PURPOSE To investigate the risk of second primary neoplasms (SPNs) after primary sebaceous carcinoma of the eyelid (SCE). METHODS Data on patients diagnosed with primary SCE as their first malignancy were extracted from the Surveillance, Epidemiology, and End Results database from 2000 to 2016. Observed-to-expected ratios of SPNs were calculated to estimate standardized incidence ratios (SIRs). Patients were compared with a reference population (RP) matched for age, gender, and race. RESULTS Five hundred fifty-nine patients with primary SCE were identified, 16% of whom developed SPNs. SCE patients displayed a 61% increased risk of developing SPNs compared with the RP (p < 0.001). Overall, the risk of SPNs of the lungs (SIR = 1.82; p < 0.05), pancreas (SIR = 2.94; p < 0.05), salivary glands (SIR = 41.65; p < 0.001), and skin (SIR = 8.33; p < 0.05) was elevated. Only non-Hispanic Whites were at an increased risk (SIR = 1.51; p < 0.05). Patients 40-54 years old at the time of diagnosis were at the highest risk of developing SPNs compared with the RP (SIR = 3.15; p < 0.05). Women with SCE experienced an increased risk of breast cancer (SIR = 3.6; p < 0.05) and chronic lymphocytic leukemia (SIR = 8.8; p < 0.01). CONCLUSION SCE patients are more likely to develop SPNs of the lungs, pancreas, salivary gland, and skin than the RP. Forty to fifty-four years old Caucasian patients are at the highest risk. Women are at an increased risk of developing breast malignancies and chronic lymphocytic leukemia. Clinicians should be cognizant of these risks when managing SCE patients.

Sebaceous carcinoma is characterized by its aggressive local tumor behavior and ability to metastasize. Small periocular sebaceous carcinoma are typically treated by excision with cryotherapy. Larger tumors often require adjuvant external beam radiotherapy (EBRT) and/or exenteration surgery. When used alone, EBRT techniques typically exceed the tolerance of critical normal ocular structures. The interstitial orbital brachytherapy-boost technique permits dose escalation to the tumor bed, while minimizing radiation dose to critical normal ocular structures. Here, we present a case of orbital sebaceous carcinoma treated with excision, cryotherapy, and super-thick amniotic membrane fornix reconstruction. Then, after 3 weeks of healing, adjuvant-combined electron interstitial high-dose rate brachytherapy-boost was added to electron-beam radiotherapy to optimize the orbital radiation dose distribution, increase dose to inferonasal orbit, and allow relative sparing of orbital tissues. At 1-year follow-up, there was no evidence of orbital tumor, no significant eye lash loss, normal ocular motility, no radiation retinopathy, optic neuropathy and a visual acuity of 20/20., Here, the authors describe a technique using adjuvant interstitial high-dose rate brachytherapy followed by electron-based external beam radiation therapy to increase the dose to a sebaceous carcinoma tumor bed while reducing dose to normal orbital structures.

Purpose To report the epidemiology, histopathological spectrum, and surgical outcomes of peripunctal mass lesions. Methods Multicentric retrospective case series involving 6 centers in India. All cases of peripunctal masses with histopathological diagnoses and minimum follow up of 3 months were included. Demographic data, clinical photographs, objective assessments of clinical improvement were assessed before and after treatment. Results A total of 50 patients were included. The mean age was 46.4 years (range: 12-76 years). The mean duration of complaints was 27.4 months (range: 1-120 months) and mean follow-up period after surgery was 15.8 months (range: 3-120 months). The most common presenting complaints were a mass lesion/cosmetic concern (82%), followed by epiphora (48%) and foreign body sensation (16%). The most common lesion was melanocytic nevus (19/50; 38%), followed by squamous papilloma (8/50; 16%), hidrocystoma (7/50; 14%), and epidermoid cyst (7/50; 14%). Three cases of malignant tumors were diagnosed: 2 cases of sebaceous gland carcinoma and 1 case of squamous cell carcinoma. In all, 21 of 50 (42%) cases underwent excision with the placement of a Mini-Monoka stent, whereas the remaining 29 cases underwent only excision. At final follow up, a healed punctal opening was visible in 46 of 50 (92%) of the cases; 2 (4%) cases had a slit-like punctum and in 1 case (2%), a stenosed punctum was visible. However, only 1 case (2%) reported epiphora at follow up. Conclusions Peripunctal masses are largely benign and present most commonly on the lower eyelid. Melanocytic nevus is the most common peripunctal mass lesion. In the series, stent placement did not play a significant role in the functional outcome.

Purpose The lacrimal caruncle is composed of numerous structures including different glands as well as hair follicles. Accordingly, the spectrum of benign and malignant lesions is broad, and the clinical diagnosis is often challenging. Here we systematically analyzed excised caruncular tumors over the past 22 years with special emphasis on the clinico-pathological correlation to provide a guidance for clinicians. Methods Retrospective evaluation with clinico-pathologic correlation of surgically removed caruncular tumors between 1998 and 2020 at a tertiary referral center. Results Eighty-two caruncular tumors were identified in the respective period. The patients were between 11 and 85 years of age (mean, 46.8 years; median, 49 years). Nevi (n = 35), cystic lesions (n = 14), oncocytoma (n = 9), papilloma (n = 8), sebaceous gland hyperplasia (n = 8), and reactive lymphoid hyperplasia (n = 4) were observed most frequently. Besides, we are the first reporting herniated orbital fat accompanied by a pyogenic granuloma. 2.4% (n = 2) were malignant tumors (sebaceous gland carcinoma, conjunctival intraepithelial neoplasia with pyogenic granuloma). Conclusion Caruncular tumors show a broad spectrum of mostly benign tumors. They can occur in patients of any age. However, 8/9 oncocytomas and both malignant lesions were detected in patients older than 60 years. Although the clinical diagnosis was confirmed in only 68.3% by the histopathological analysis, the two malignant lesions were identified as such already clinically. Caruncular lesions with a history of growth or other signs of malignancy should be excised followed by detailed histopathological examination to allow a final diagnosis and exclude rare malignant tumors with lethal potential.

Aims Tumors of the cutaneous adnexa arise from, or differentiate toward, structures in normal skin such as hair follicles, sweat ducts/glands, sebaceous glands, or a combination of these elements. This class of neoplasms includes benign tumors and highly aggressive carcinomas. Adnexal tumors often present as solitary sporadic lesions, but can herald the presence of an inherited tumor syndrome such as Muir-Torre Syndrome, Cowden Syndrome, or CYLD Cutaneous Syndrome. In contrast to squamous cell carcinoma and basal cell carcinoma, molecular changes in adnexal neoplasia have been poorly characterized, and there are few published reviews on the current state of knowledge. Methods and results We reviewed findings in peer-reviewed literature on molecular investigations of cutaneous adnexal tumors published through June 2021. Conclusions Recent discoveries have revealed diverse oncogenic drivers and tumor suppressor alterations in this class of tumors, implicating pathways including Ras/MAPK, PI3K, YAP/TAZ, beta-catenin, and NF-kappaB. These observations have identified novel markers, such as NUT for poroma and porocarcinoma, and PLAG1 for mixed tumors. Here, we provide a comprehensive overview and update of the molecular findings associated with adnexal tumors of the skin.

Sebaceous neoplasia primarily includes sebaceous adenoma, sebaceoma, and sebaceous carcinoma (SC). Sebaceous adenoma, sebaceoma, and a subset of cutaneous SC are frequently associated with defective DNA mismatch repair resulting from mutations in MLH1, MSH2, or MSH6. These tumors can be sporadic or associated with Muir-Torre syndrome. SCs without defective DNA mismatch repair have ultraviolet signature mutation or paucimutational patterns. Ocular SCs have low mutation burdens and frequent mutations in ZNF750. Some ocular sebaceous carcinomas have TP53 and RB1 mutations similar to cutaneous SC, whereas others lack such mutations and are associated with human papilloma virus infection.