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Sebaceous gland carcinoma of the eyelid and palpebral conjunctiva in a patient with Muir-Torre syndrome
  1. ENRIQUE MENCÍA-GUTIÉRREZ,
  2. ESPERANZA GUTIÉRREZ-DÍAZ
  1. Department of Ophthalmology, 12 de Octubre Hospital and Complutense University, Madrid, Spain
  2. Department of Pathology
  1. ANGEL SANTOS-BRIZ,
  2. SANTIAGO MADERO-GARCÍA
  1. Department of Ophthalmology, 12 de Octubre Hospital and Complutense University, Madrid, Spain
  2. Department of Pathology
  1. Dr Enrique Mencía-Gutiérrez, Cedro, 23 E-28250 Torrelodones, Madrid, Spain emencia{at}hdoc.insalud.es

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Editor,—Sebaceous carcinoma (SC) of the eyelid and palpebral conjunctiva is rare.1 We present a patient with this entity and Muir-Torre syndrome (MTS).2 3 MTS is characterised by the concurrent or sequential documentation of at least a single sebaceous gland tumour (adenoma, epithelioma, or carcinoma), with or without keratoacanthomas, and a minimum of one internal malignancy. A recent review revealed that 163 cases fulfilling the diagnostic criteria for MTS have been reported since 1913, with 318 internal malignancies.4-6 Colorectal (47%) and urogenital (21%) malignancies predominate, and nearly half the patients have two or more internal cancers. Our case is remarkable and was previously reported 7 years ago for presenting the highest number of malignancies described in this syndrome (eleven) and a prolonged survival of 26 years.7

CASE REPORT

A 62 year old man came to our clinic with a diagnosis of MTS.7 In 1972 he had undergone a right hemicolectomy for undifferentiated Dukes' B adenocarcinoma. In 1978 segmental right ureterectomy was performed for transitional cell carcinoma (T1 No Mo). In 1983 a sebaceous epithelioma had been resected from the left thigh. Between 1986 and 1987 four urological operations were performed for low grade tumours: partial excision of the right renal pelvis, a segmental left ureterectomy and two transurethral resections at the right ureteric meatus. In 1987 a radical right nephoureterectomy, was performed for invasive carcinoma (T3a No Mo). In 1989 he was diagnosed with rectal carcinoma and an abdominoperineal resection was performed (Dukes' B adenocarcinoma plus adenomatous polyp); 16 months later, a colonoscopy showed metachronous carcinoma and a total colectomy was perfomed with end ileostomy for adenocarcinoma in a tubulovillous adenoma. In 1998 new skin lesions appeared on the face, and the patient was referred to our clinic because of spontaneous bleeding of the left upper lid. Physical examination disclosed a whitish, gelatinous, and vascularised papillomatous lesion on the tarsal conjunctiva located on the inner part of the left upper eyelid. It protruded as the eyelid was turned up, did not affect the free edge and was 0.5 cm long, with a base width of 0.2 cm (Fig 1). The patient also presented with more than 40 facial lesions (face and neck), each about 0.4 cm wide, and which had appeared in the previous year; they were rounded, well delimited, and adherent to deep tissues. One of them was located in the mid part of the upper left eyelid, and did not affect the free edge. Both eyelid tumours were resected by excisional biopsy. The genetic study showed mutations in the hMSH2 gene (mut exon 14 msh2; del at 2239; codon 747).

Figure 1

Polypoid mass located in the temporal aspect of the tarsal conjunctiva without free edge affection.

COMMENT

MTS is a rare autosomal dominant disorder characterised by the association of sebaceous gland tumours with internal malignancies. This syndrome is now considered a subtype of the more common hereditary non-polyposis colorectal cancer syndrome (HNPCC).8 This last condition has been ascribed to mutations in four mismatched repair genes and similar mutations, mostly located in the hMSH2 gene, are now being described in some MTS patients.9 The genetic study showed mutations in the hMSH2 gene in our patient. This case reveals the indolent course of multiple neoplasm in patients with MTS and the prolonged survival that is possible after surgical treatment.

The skin lesions may be the first sign in 41% of these patients, and in some cases the cutaneous tumours may precede the appearance of the internal disease by as many as 25 years,4 although more often they follow the diagnosis of at least the first visceral malignancy.10 Our case presented a sebaceous epithelioma in the left thigh in 1983, 11 years after the first malignancy and did not present SC on the eyelid, face, and palpebral conjunctiva until 1998, 15 years later.

The mean age for the appearance of the skin tumours is 53 years (range 27–90 years) and the mean age for detection of the initial visceral neoplasm is 50 years; our case was diagnosed at ages 36 and 47 years old. The male:female ratio is 2:1.

Sebaceous carcinomas of the eyelid comprise 1–5.5% of all malignancies in this anatomic location and have been noted for their frequent metastasic potential. In contrast, extraocular sebaceous carcinoma is exceedingly rare, with fewer than 100 reported cases; metastasic spread is infrequent.10 We have found only one case of differentiated sebaceous carcinoma from the palpebral conjunctiva, which was described as uncommon.1 Therefore, this would be the second case reported at this location. There are 37 MTS patients with documented sebaceous gland carcinomas.

Histopathological diagnosis in our case was SC well differentiated in the lesion of the skin and SC moderately differentiated in the conjunctival lesion (Fig 2).

Figure 2

(A) The tumour was composed of lobules or sheets of cells separated by a fibrovascular stroma. Focally the lesion showed a pagetoid spread of neoplasic cells through the metaplastic conjuctiva (haematoxylin and eosin ×100). (B) Neoplastic cells showed variable sebaceous differentiation, with finely vacuolated or foamy cytoplasms. Nuclei were large, with prominent nucleoli. Scattered mitosis were present (haematoxylin and eosin ×400).

The treatment of sebaceous neoplasm is surgical excision. Complete removal of the tumour virtually eliminates the chance of recurrence in extraocular locations. Lesions of the eyelid may have metastasic recurrence even with adequate initial excision.4

Patients with an MTS associated cutaneous lesion should have a complete evaluation for gastrointestinal or genitourinary cancers. Although the penetrance of this disease is variable, its autosomal dominant inheritance suggests that relatives should be screened for sebaceous gland tumours and internal malignancy and followed on a regular basis.4

References

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