Abstract:

An 18-year-old man with ataxia-telangiectasia (A-T) diagnosed at age 4 presented one year earlier with an ulcerated plaque on his left upper arm. A punch biopsy of the left forearm demonstrated moderately dense infiltrate of interstitial histiocytes and epithelioid cells forming multiple small epithelioid granulomas, with numerous lymphocytes within and surrounding the granulomas, and extending into the subcutaneous fat lobules and septae. AFB and fungal stains were negative. Over the years, he developed numerous ulcerating plaques and nodules, which were biopsied and demonstrated interstitial and granulomatous dermatitis with epithelioid granulomas. More recent biopsies demonstrated dermal sclerosis with lymphoplasmacytic inflammation—features typical of morphea. Vaccine-strain rubella virus was isolated from fresh lesional skin. Immunohistochemistry for vaccine-strain rubella viral capsid protein was positive in fixed non-lesional and lesional skin. Cutaneous granulomatous plaques are a rare presentation of A-T, frequently complicated by ulceration and infections, and almost universally progressive and refractory to treatment. Chronic persistent infection with vaccine-strain rubella virus has been found in granulomatous lesions associated with congenital immunodeficiency, particularly A-T. Over the years, he was treated with topical and intralesional corticosteroids, topical tacrolimus, IVIG, etanercept, and nitazoxanide, an antiparasitic drug with known anti-viral activity for rubella virus—all with minimal clinical improvement. He subsequently developed an exophytic mass in the chronic left upper arm ulcer. Biopsy of the exophytic tumor demonstrated moderately to well-differentiated invasive squamous cell carcinoma and imaging showed nodal metastases. He had rapid growth of the mass and ultimately succumbed due to metastatic cutaneous squamous cell carcinoma.

Financial Disclosure:
No current or relevant financial relationships exist.

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Nadine Kaskas