Comèl-Netherton syndrome complicated by papillomatous skin lesions containing human papillomaviruses 51 and 52 and plane warts containing human papillomavirus 16

Abstract

We describe a 28-year-old woman with characteristic clinical signs of Comèl-Netherton syndrome (CNS) who showed numerous plane warts on her face and forearms and papillomatous skin tumours affecting her groins and genitoanal skin. Using human papillomavirus (HPV) type-specific primers for cutaneous and mucosal HPV types we identified HPV 16-specific sequences in plane warts and HPV 51- and HPV 52-specific DNA in papillomatous skin from the patient's groins, suggesting a pathogenetic role (cofactor) for HPV in the development of verrucous skin lesions in patients with CNS. Whether the susceptibility to HPV infections is due to decreased cellular immunity or epidermal defence mechanisms remains to be seen.

WHIM syndrome, an autosomal dominant disorder: Clinical, hematological, and molecular studies

“…Patients with Wiskott-Aldrich syndrome also have been reported to develop multiple warts that may be related to underlying immunodeficiency [Ormerod et al, 1983]. Netherton syndrome [Fölster-Holst et al, 1999;Hintner et al, 1980], Klinefelter syndrome [Misra et al, 1986], and Mulvihill-Smith syndrome [Ohashi et al, 1993] also may manifest extensive verrucosis, where immune alterations associated with the disorder likely contribute to the development of HPV infections. Carlson et al [1999] recently presented a patient with Clouston syndrome who developed multiple palmoplantar, flat-topped syringofibroadenomas that resembled lesions of epidermodysplasia verruciformis.…”

Generalized verrucosis: A review of the associated diseases, evaluation, and treatments

“…HPV analysis of multiple lesions revealed types 51 and 52 in the groin, and HPV type 16 in the planar warts. 105 A second report described 3 patients with NS and disseminated warts. Common and EV-associated HPV types were both present in verrucous lesions, as were some nonmelanoma skin cancers in those patients with EV-associated HPV types.…”

“…104,105 The first case involved a 29-year-old woman with NS, presenting with abundant planar warts on her face and arms and numerous papillomatous lesions in her genital area. HPV analysis of multiple lesions revealed types 51 and 52 in the groin, and HPV type 16 in the planar warts.…”

Early Development of Multiple Epithelial Neoplasms in Netherton Syndrome

“…The case presented here possessed close similarities to one reported previously [11], since at a young age our patient developed multiple SCCs and BCCs in sun-exposed skin areas, a left parotid gland carcinoma and an SCC of the glans penis. HPV infection seems common in Netherton syndrome [6, 11, 13]and has been brought up in association with the development of nonmelanoma skin cancer. However, in our patient polymerase chain reaction did not detect any HPV DNA in 4 different samples including 2 SCCs and 1 BCC.…”