Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

Abstract

Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not described as a classical feature of the disease. Here we report the appearance of granulomatous skin lesions complicating primary Varicella Zoster Virus infection in a toddler with Rothmund Thomson syndrome and immune deficiency. Although granulomatous disorders are sometimes seen after Herpes zoster, they are even more rare after Varicella primary infection. Granulomas have hitherto not been described in Rothmund-Thomson syndrome. With this report we aim to stress the importance of screening for immune deficiency in patients with Rothmund-Thomson syndrome.

Figure 1

Clinical and histological view of granulomatous lesions. A. Typical poikiloderma lesions on the cheek and ear. B. Deeply red-violet granulomatous skin lesions on arms. C. Low power microscopy of the skin lesion reveals superficial and deep inflammation without repercussion on the epidermis, and several lightly stained granulomas, surrounded by inflammatory cells. Haematoxylin and eosin stain, original magnification × 10. D. High power of a granuloma reveals a mixture of epithelioid macrophages, scattered lymphocytes and lack of caseous necrosis; the granuloma is surrounded by a narrow rim of mononuclear inflammatory cells. Haematoxylin and eosin stain, original magnification × 25. E. Immunohistochemical staining highlighted the granulomas, composed of CD68(+) macrophages. Immunohistochemical staining for CD68, original magnification × 10.