title: Cutaneous granulomas and epidermodysplasia verruciformis in early onset combined immunodeficiency syndrome.
abstract: Cutaneous granulomas with prominent caseating necrosis are a rare manifestation of immunodeficiency. Extensive and recalcitrant cutaneous viral infections can also be seen. We present a case of an 18-year-old white man with an early onset poorly characterized combined immunodeficiency syndrome who, over the past 5 years, developed enlarging tender red-purple plaques on his extremities and pink near-confluent macules on his chest and back. Previous biopsies of the red-purple plaques showed features of granuloma annulare. Histopathological examination of old and new biopsies revealed both sarcoidal and palisading necrobiotic granulomas with perforating features and elastophagocytosis. Stains and tissue cultures were negative for bacterial and fungal organisms. In addition, biopsy of a macule on the back demonstrated verruca plana with characteristics of epidermodysplasia verruciformis. As an infant, the patient had failure to thrive and a combined immunodeficiency, but was lost to follow-up for 15 years. He currently continues to have severe hypogammaglobinemia and cellular immunodeficiency. Intravenous immunoglobulin and prednisone were initiated and his plaques improved rapidly. Topical imiquimod was ineffective for the verruca plana. The patient and his parents are currently undergoing whole exome sequencing including evaluation for epidermodysplasia verruciformis 1 and 2 gene mutations. This case highlights the importance of including genetic immunodeficiency disorders in the clinical and histopathological differential diagnosis for cutaneous sarcoidal or palisading necrobiotic granulomas and for extensive cutaneous viral infection.
authors.affiliation: *Division of Dermatology, Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA; †Division of Allergy and Immunology, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA; ‡Division of Genetics, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA; and §Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA.
authors.forename: Yen T
authors.initials: YT
authors.lastname: Wang
authors.forename: Bob
authors.initials: B
authors.lastname: Geng
authors.forename: Ki-Young
authors.initials: KY
authors.lastname: Yoo
authors.forename: Ewald R
authors.initials: ER
authors.lastname: Stiehm
authors.forename: Maria
authors.initials: M
authors.lastname: Garcia-Lloret
authors.forename: Derek
authors.initials: D
authors.lastname: Wong
authors.forename: Chandra
authors.initials: C
authors.lastname: Smart
authors.forename: Scott
authors.initials: S
authors.lastname: Worswick
authors.forename: Raymond L
authors.initials: RL
authors.lastname: Barnhill
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002675:Child, Preschool; D004819:Epidermodysplasia Verruciformis / Q000209:etiology* / Q000473:pathology; D006099:Granuloma / Q000209:etiology* / Q000473:pathology; D006801:Humans; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000150:complications*; D012871:Skin Diseases / Q000209:etiology* / Q000473:pathology