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Open Access Publications from the University of California

Scholarly Works (366 results)

  • Article
  • Peer Reviewed
Dermatology Online Journal, Volume 26, Issue 11 (2020)
Sebaceous carcinoma is a rare cutaneous malignancy that frequently mimics other dermatologic conditions. Extraocular subtypes are uncommon, but when present are frequently located in the head and neck region. Herein, we present a patient with a rapidly growing upper back mass eventually diagnosed as sebaceous carcinoma and managed with wide surgical excision. Currently, sparse literature exists to guide management of such patients. This case highlights not only the diagnostic challenges of sebaceous carcinoma, but also the need for further studies to investigate therapeutic interventions and long-term outcomes.
    Cover page: Extraocular sebaceous carcinoma as a rapidly growing back mass: a case reportCreative Commons 'BY-NC-ND' version 4.0 license
    • Article
    • Peer Reviewed
    Dermatology Online Journal, Volume 23, Issue 6 (2017)

    We report a case of a 10 year-old girl diagnosed with sebaceous carcinoma of the posterior left arm. The presented case reviews the histopathological and immunohistochemical characteristics of this malignancy, including a review of the literature in pediatric patients regarding prognosis and treatment. Sebaceous carcinoma is a malignant neoplasm with sebaceous differentiation, typically occurring in the sixth-to-seventh decades of life. It most commonly arises in the periocular region. It is extremely rare in the pediatric population.

      Cover page: Sebaceous carcinoma on the arm of a 10-year-old girlCreative Commons 'BY-NC-ND' version 4.0 license
      • Article
      • Peer Reviewed
      UC San Francisco Previously Published Works (2019)

      Background

      Sebaceous carcinoma (SeC) is an uncommon malignancy arising from sebaceous glands of the conjunctiva and skin. Recurrent mutations in the ZNF750 were recently identified in ocular SeC. We assessed whether ZNF750 loss is a specific feature of ocular SeC or a general feature of sebaceous tumors.

      Methods

      Immunostaining for ZNF750 expression was performed in 54 benign and malignant sebocytic proliferations. Staining for ZNF750 was scored on a three-tier scale: positive (>75%), partially positive (5%-74%), and negative (<5%).

      Results

      ZNF750 expression was negative in 4/11 ocular SeC, and partially positive in 4/11 ocular SeC and 6/13 cutaneous SeC. No extraocular tumors were negative. No loss was found in sebaceous adenoma or sebaceous hyperplasia. In nine previously sequenced ocular SeCs, two lacked detectable somatic mutations in ZNF750, but showed complete loss of staining, indicating non-mutational inactivation of ZNF750.

      Conclusion

      We show complete loss of the ZNF750 epidermal differentiation regulator in about half of ocular SeC, highlighting the most common genetic defect in this cancer type. Loss of ZNF750 expression is seen even in tumors without truncating mutations and reduced in many of the remaining ocular and cutaneous SeC. In contrast, no ZNF750 loss was detected in benign sebaceous proliferations.
        Cover page: Loss of ZNF750 in ocular and cutaneous sebaceous carcinoma
        • Article
        • Peer Reviewed
        Dermatology Online Journal, Volume 20, Issue 7 (2014)

        A 14-year-old girl presented with a new, rapidly growing, pigmented tumor on a previously existing yellowish, verrucous plaque on the scalp. The patient received complete surgical excision. Routine histology ruled out basal cell carcinoma (BCC) and the histological diagnosis was pigmented trichoblastoma arising in nevus sebaceous (NS). It is important to define management for new lesions developing in pediatric patients with existing nevus sebaceus.

          Cover page: Rapidly growing pigmented tumor on a scalp nevus sebaceous of a pediatric patient: Observation or excisionCreative Commons 'BY-NC-ND' version 4.0 license
          • Article
          • Peer Reviewed
          Dermatology Online Journal, Volume 30, Issue 1 (2024)
          Patients with Muir-Torre syndrome may have a systemic malignancy and a sebaceous neoplasm such as an adenoma, epithelioma, and/or carcinoma. The syndrome usually results from a germline mutation in one or more mismatch repair genes. Iatrogenic or acquired immunosuppression can promote the appearance of sebaceous tumors, either as an isolated event or as a feature of Muir-Torre syndrome and may unmask individuals genetically predisposed to the syndrome. Two iatrogenically immunosuppressed men with Muir-Torre syndrome features are described. Similar to these immunocompromised men, Muir-Torre syndrome-associated sebaceous neoplasms have occurred in solid organ transplant recipients, human immunodeficiency virus-infected individuals, and patients with chronic diseases who are treated with immunosuppressive agents. Muir-Torre syndrome-associated sebaceous neoplasms occur more frequently and earlier in kidney recipients, who are receiving more post-transplant immunosuppressive agents, than in liver recipients. The development of sebaceous neoplasms is decreased by replacing cyclosporine or tacrolimus with sirolimus or everolimus. Specific anti-cancer vaccines or checkpoint blockade immunotherapy may merit exploration for immune-interception of Muir-Torre syndrome-associated sebaceous neoplasms and syndrome-related visceral cancers. We suggest germline testing for genomic aberrations of mismatch repair genes should routinely be performed in all patients-both immunocompetent and immunosuppressed-who develop a Muir-Torre syndrome-associated sebaceous neoplasm.
            Cover page: Patients with a new-onset cutaneous sebaceous neoplasm following immunosuppression should be evaluated for Muir-Torre syndrome with germline mismatch repair gene mutation analysis: case reportsCreative Commons 'BY-NC-ND' version 4.0 license
            • Article
            • Peer Reviewed
            UC Davis Previously Published Works (2017)

            Objective

            We describe the case of a patient with metastatic breast cancer who presented with eyelid margin thickening and madarosis more suggestive of sebaceous cell carcinoma than metastatic disease. Histopathology confirmed metastatic breast adenocarcinoma.

            Case report

            A 59-year-old woman with a known history of metastatic breast carcinoma actively enrolled in a clinical trial presented with a thickened right upper eyelid margin with madarosis and without ulceration. Although the possibility of metastasis was considered, a biopsy was performed to ensure the patient did not have a primary eyelid malignancy such as sebaceous cell carcinoma given her immunocompromised state. Histopathology revealed metastatic breast adenocarcinoma.

            Conclusions

            To the authors' best knowledge, metastatic breast carcinoma presenting as eyelid margin thickening without ulceration has not previously been reported. Eyelid metastasis is rare, and this patient's clinical presentation was found to be unusual as well. It is important to establish metastatic disease even in a small focus such as the eyelid, as it may alter disease management.
              Cover page: Breast Cancer Metastasis Masquerading as the Great Masquerader: Sebaceous Cell CarcinomaCreative Commons 'BY-NC' version 4.0 license
              • Article
              • Peer Reviewed
              UC San Francisco Previously Published Works (2018)
              Sebaceous carcinomas (SeC) are cutaneous malignancies that, in rare cases, metastasize and prove fatal. Here we report whole-exome sequencing on 32 SeC, revealing distinct mutational classes that explain both cancer ontogeny and clinical course. A UV-damage signature predominates in 10/32 samples, while nine show microsatellite instability (MSI) profiles. UV-damage SeC exhibited poorly differentiated, infiltrative histopathology compared to MSI signature SeC (p = 0.003), features previously associated with dissemination. Moreover, UV-damage SeC transcriptomes and anatomic distribution closely resemble those of cutaneous squamous cell carcinomas (SCC), implicating sun-exposed keratinocytes as a cell of origin. Like SCC, this UV-damage subclass harbors a high somatic mutation burden with >50 mutations per Mb, predicting immunotherapeutic response. In contrast, ocular SeC acquires far fewer mutations without a dominant signature, but show frequent truncations in the ZNF750 epidermal differentiation regulator. Our data exemplify how different mutational processes convergently drive histopathologically related but clinically distinct cancers.
                Cover page: Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.Creative Commons 'BY' version 4.0 license
                • Article
                Dermatology Online Journal, Volume 26, Issue 4 (2020)
                Mohs micrographic surgery (MMS) is a breakthrough surgical technique that has changed the management of neoplasms in dermatology. Through continued practice and evolution, MMS now can successfully treat a variety of rare non-melanocytic cutaneous malignancies for which achieving remission and the optimal aesthetic result after surgery was previously challenging. Mohs micrographic surgery has utility for conditions besides melanoma. Herein, we discuss this versatility of Mohs micrographic surgery. Specifically, Mohs micrographic surgery can be successfully used for cases such as dermatofibrosarcoma protuberans, atypical fibroxanthomas, extramammary Paget disease, Merkel cell carcinoma, sebaceous carcinoma, and microcystic adnexal carcinoma.
                  Cover page: Mohs micrographic surgery: a treatment method for many non-melanocytic skin cancersCreative Commons 'BY-NC-ND' version 4.0 license
                  • Article
                  Dermatology (2023)

                  The histopathology of sebaceous carcinoma (SBC) can mimic other skin neoplasms, including basal cell carcinoma (BCC).Therefore, diagnostic biomarkers are needed for a subset of cases. Normal sebaceous glands express PRAME (PRAME nuclearreceptor transcriptional regulator), a melanoma-associated biomarker.Donell et al. showed that PRAME has strong immunoreactivity with basaloid sebocytes in SBC. Ng et al. reported patchy cytoplasmic staining in the germinative sebocytes only.Sebaceous glands (H&E stain and PRAME stain)

                  Objective: to evaluate the utility of PRAME immunohistochemistry as a diagnostic biomarker for SBC and its usefulness in the distinction of SBC from BCC.

                    Cover page: Can PRAME immunohistochemistry be used to differentiate sebaceous carcinoma from basal cell carcinoma?
                    • Article
                    • Peer Reviewed
                    Dermatology Online Journal, Volume 22, Issue 1 (2016)
                    The predisposition to epithelial neoplasms in nevus sebaceous is well established; most tumors occur in adults and are benign. Hidradenoma is a relatively rare benign tumor of sweat gland origin that can rarely arise within a nevus sebaceous. We present an interesting case of a hidradenoma and sebaceoma arising within a nevus sebaceous and present a literature review of the 2 conditions. Even though hidradenoma is a benign tumor, we would advocate complete excision given the potential for malignant transformation.
                      Cover page: A unexpected growth arising within nevus sebaceous of JadassohnCreative Commons 'BY-NC-ND' version 4.0 license
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