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Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li–Fraumeni syndrome
  1. S Baumüller1,
  2. M C Herwig1,
  3. E Mangold2,
  4. F G Holz1,
  5. K U Loeffler1
  1. 1Department of Ophthalmology, University of Bonn, Bonn, Germany
  2. 2Institute of Human Genetics, University of Bonn, Bonn, Germany
  1. Correspondence to Sönke Baumüller, Department of Ophthalmology, University of Bonn, Ernst-Abbe-Str 2, Bonn 53127, Germany; soenke.baumueller{at}ukb.uni-bonn.de

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Case

A Caucasian man in his 50s was referred to our department with a diagnosis of cutaneous horn. He presented with an exophytic lesion of the right upper eyelid progressively enlarging over the last 6 months with bleeding on some occasions. His past medical and ocular history were unremarkable. His family history (figure 1), however, revealed cancer in at least three generations. One daughter had been diagnosed with early onset colon cancer, and the other with a malignant parotid neoplasm and breast cancer as a teenager. One brother had an unknown cancer of the face, and the other died shortly after birth of unknown cause. His mother was diagnosed with either a sarcoma or a tracheal carcinoma in her 20s. His aunt had a genitourinary malignancy. Slit lamp examination disclosed a conical horn of the right upper eyelid margin. The surface of the lesion appeared dark with a crusty, hyperkeratotic and ulcerative façade. On everting the lid, a yellowish nodular base was observed (figure 2A). Further clinical examination of both eyes was normal and visual acuity was 20/20 OU. A wedge resection was performed, and the lesion was submitted for histopathologic evaluation (figure 2B). The patient died 5 years later due to colon cancer.

Figure 1

Family history of the Li–Fraumeni patient. Shaded symbols indicate cancer; cross-hatch indicates deceased members; tumour type is indicated. The Li–Fraumeni syndrome patient (III: 2) is described in this report.

Figure 2

(A) Inspection on everting the eyelid showing …

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