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

Abstract

Rupture of follicular (epidermoid) cysts is believed to be the consequence of bacterial infection. We report a 24-year-old man with idiopathic CD4 lymphopenia and chronic Mycobacterium avium intracellulare infection who developed multiple, recurring painful abscesses over the distal extremities that increased in number and severity when systemic steroid and interferon-gamma treatment was instituted for interstitial lung disease. Cultures were consistently negative for microorganisms, but pathological examination revealed ruptured epidermoid cyst walls with human papillomavirus (HPV) viropathic changes (keratinocytes with perinuclear halos and abundant basophilic keratohyaline granules). Cutaneous examination showed numerous, widespread flat-topped papules and achromic macules over the extremities, head and neck. Nested polymerase chain reaction analysis for HPV DNA revealed that the abscess-related cyst walls harboured epidermodysplasia verruciformis (EV)-associated HPV types 20, 24, alb-7 (AY013872) and 80. His cutaneous lesions harboured HPV types 3, 8 and 80. Similar to past reports, our patient developed an EV-like eruption in the setting of immunodeficiency. In this instance, EV-associated HPV infection of the follicular infundibular epithelium or pre-existing cysts in the setting of immunodeficiency may have led to cystic growth, rupture and subsequent painful inflammation.

Mutations in the NF-κB signaling pathway: implications for human disease

“…EDA were also shown to carry NEMO mutations (Tobin et al 2003;Niehues et al, 2004;Orange et al, 2004;Filipe-Santos et al, 2006;Puel et al, 2006) ( Figure 1). All affected patients suffered from recurrent infections, often Mycobacteria-related.…”

“…Most CYLD mutations identified in cylindromatosis are frameshift or nonsense mutations that remove all or part of the catalytic domain of CYLD (Bignell et al, 2000;Poblete-Gutie´rrez et al, 2002;Hu et al, 2003;Scheinfeld et al, 2003;Tobin et al, 2003;Bowen et al, 2005;Heinritz et al, 2006) (Figure 2). In addition, a few missense mutations have been identified, but how they affect CYLD function is unclear .…”

NF-κB-related genetic diseases

“…60 NEMO-related pathologies provide a very fascinating example of the complex genotype-phenotype relationship that may result from the interplay between chromosome X location of a gene, its function and the various mutations that it may carry. The X-linkage of NEMO appears to act not only as a natural screen that helps discarding the most severely defective mutations but it may also indirectly favor the persistence in the body (or the general human population) of hypomorphic mutations that can exert deleterious effects later on or in a discrete subset of tissues.…”

Verrucous Cyst With Melanocytic and Sebaceous Differentiation: A Case Report and Review of the Literature

“…3 Verrucous cysts located elsewhere on the body typically are not connected to the epidermal surface and have been associated with HPV types 20, 34, 8, and 6. 4,5 The presence of the HPV virus has traditionally been demonstrated with molecular methods and IHC staining for HPV antigens 1,2,6 ; however, our case represents the first reported instance, to our knowledge, demonstrating the presence of HPV with p16 positivity in a verrucous cyst.…”