Malignant neurilemoma with xeroderma pigmentosum

Abstract

Xeroderma pigmentosum is a rare autosomal recessive disease characterised by hypersensitivity to sunlight, and is associated with a high incidence of skin cancer. We report a case of xeroderma pigmentosum with malignant neurilemoma in a 46-year-old woman which is unique due to its presentation, which was confirmed histopathologically.

Trial registration number: 31095.

Figure 1

The patient with a mass in the left orbit preoperatively. The pigmented lesion was raised 4–6 mm from the surface. She developed a firm mass in the interpalpebral zone of the left eye measuring 2.0×2.5 cm, which was attached to the palpebral conjunctiva and the eyelids.

Figure 2

Magnetic resonance image disclosing a heterogeneous signal intensity on T2 weighted images.

Figure 3

Histological examination revealed a typical pattern of schwannoma consisting of Antoni type B. Histopathologically, the tumour tissue consists of so-called Antoni A and B type cells. Type A tissue shows densely packed, elongated spindle cells, while type B tissue has a more myxoid consistency. Haematoxylin and eosin; original magnification ×20.

Figure 4

S-100 protein is positive in immunochemistry staining. Immunohistochemically, the tumour cells were partly positive for S-100. Original magnification ×200.

Figure 5

The mass in the left orbit was dissected 2 weeks postoperatively.