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2 results

  • Chapter 10 - Detection of Genetic Syndromes

  • Edited by Mai P. Hoang, Harvard Medical School, Boston
  • Book:
    Immunohistochemistry and Ancillary Studies in Diagnostic Dermatopathology
    Published online:
    17 June 2025
    Print publication:
    26 June 2025, pp 333-347

  • Summary

    Cutaneous tumors including adnexal, melanocytic, and mesenchymal lesions in the setting of multiple tumors can be associated with a hereditary syndrome. Some are of clinical importance due to the association with internal malignancy and they can be screened by immunohistochemical stains performed on the associated tumors. Early diagnosis would allow timely genetic counseling and appropriate cancer surveillance. In this chapter the role of mismatch repair proteins in the screening for Muir-Torre syndromes, BAP1 for BAP1-tumor syndrome, PTEN for Cowden syndrome/PTEN hamartoma syndrome, and 2SC and FH for hereditary leiomyomatosis and renal cell carcinoma will be discussed.

  • Sebaceoma of the auricle

  • J P Jacobson, A Weisstuch, C Hajdu, D Myssiorek
  • Journal:
    The Journal of Laryngology & Otology / Volume 126 / Issue 8 / August 2012
    Published online by Cambridge University Press:
    08 June 2012, pp. 830-832
    Print publication:
    August 2012
  • Objective:

    To report a case of sebaceoma of the auricle, and to discuss the differential diagnosis, histopathological features, surgical management and genetic associations of this entity.

    Methods:

    Case report and review of the medical literature.

    Results:

    A 79-year-old man presented with a slowly growing lesion of his auricle. Excision of the mass and histopathological review revealed a benign, basaloid, adnexal neoplasm consistent with sebaceoma. Due to its association with Muir–Torre syndrome and increased risk of visceral malignancy, the patient was followed closely for signs of malignancy. At 36 months post-excision, there were no signs of recurrence; thereafter, the patient continued to receive routine cancer surveillance follow up.

    Conclusion:

    Sebaceoma is a rarely encountered, benign, adnexal neoplasm which can occur in the head and neck. The treatment is surgical excision, and recurrence is rare. Sebaceoma can occur as part of Muir–Torre syndrome, and in these patients there is an increased risk of other sebaceous lesions and visceral malignancy; thus, genetic testing and surveillance should be strongly considered.