Dyskeratosis congenita with Epidermodysplasia verruciformis of Lewandowsky and Lutz

Abstract

The case is reported of a 30-year-old man suffering from dyskeratosis congenita with severe pancytopenia, in association with generalized verrucosis. Viral particles were detected electron microscopically. The importance of an impaired immunological state, demonstrated in this case by lymphocyte stimulation and rosette tests, is discussed.

Recurrent 'sterile' verrucous cyst abscesses and epidermodysplasia verruciformis-like eruption associated with idiopathic CD4 lymphopenia

“…HPV 5,8,9,12,14,15,17,[19][20][21][22][23][24][25][36][37][38]47,49). [34][35][36] However, a susceptibility locus to EV mapped to chromosome 17qter region, 37 frequent coinfection with HPV 3, 38 and the rarity of EV-like eruptions in immunodeficient states [39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55] indicate that other, nonimmunological factors operate in the development of clinically diagnosable EV infection. None the less, defects of cellmediated immunity such as CD4 lymphopenia in this case, or cutaneous anergy, decreased response to T-cell mitogens (e.g.…”

“…large granular CD8+ lymphocytes are common to immunocompromised patients with EV-like eruptions. [39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55] Idiopathic CD4 lymphopenia (persistent CD4 counts < 300 mm )3 and ⁄ or < 20% of the total T cells in the absence of HIV 1 ⁄ 2 or HTLV 1 ⁄ 2 infection 56 ) has been associated with extragenital HPV 18-positive bowenoid papulosis 57 and verrucosis, [58][59][60][61] but not EV-like eruptions. Rarely, cutaneous epidermoid cysts exhibit signs of HPV infection and are often termed verrucous cysts.…”

Dyskeratosis Congenita: Multisystemic Disorder with Special Consideration of Immunologic Aspects

“…'2,16,20-23 That these alterations might also result in functional effects is suggested by the evidence of cutaneous anergy in 11 patients.5,10,12,19,23-28 and a reduced mitogenic response of the lymphocytes in 9 of the 15 patients. 10,11,21,23,26 Approximately 50% of the patients with an impaired lymphocyte response acquired recurrent infections or even opportunistic infections such as Pneumocystis carinii pneumonia (PCP). Defects in the complement system have not been described.…”

Deficit of Cell-Mediated Immunity, Chromosomal Alterations and Defective DNA Repair in a Case of Dyskeratosis Congenita

“…In support of the hypothesis of an immunological defect are the findings reported in 2 cases studied from an immunologic point of view. The first one presented thymus dysplasia, lymphocyte depletion in both spleen and lymph nodes and absent primary follicles [11], The second patient who suffered from an association of dyskeratosis congenita with generalized verrucosis, had a low absolute number of T cells and depressed responsiveness to PHA and PPD [1], However, particularly since the disease is very rare, complete immuno logic evaluation in all new cases would be helpful in defining the eventual defect and identifying its role in the disease. This paper reports the findings in a case of congenital dyskeratosis diagnosed elsewhere (the patient was kindly referred by Dr. Cristofolini, Chief of the Dermatology Department, Ospedale Civile di Trento, Trento), and referred to us for immunologic workup.…”