Epidermodysplasia verruciformis associated with neurofibromatosis type 1: coincidental association or model for understanding the underlying mechanism of the disease?


Alpsoy E., Ciftcioglu M. A., Keser I., De Villiers E., Zouboulis C.

BRITISH JOURNAL OF DERMATOLOGY, cilt.146, sa.3, ss.503-507, 2002 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 146 Sayı: 3
  • Basım Tarihi: 2002
  • Doi Numarası: 10.1046/j.1365-2133.2002.04551.x
  • Dergi Adı: BRITISH JOURNAL OF DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.503-507
  • Anahtar Kelimeler: Bowen's disease, epidermodysplasia verruciformis, human papillomavirus, neurofibromatosis type 1, solar keratosis, squamous cell carcinoma, HUMAN-PAPILLOMAVIRUS DNA, SKIN CANCERS, RECIPIENTS, TUMORS, NF1
  • Akdeniz Üniversitesi Adresli: Evet

Özet

We describe a 25-year-old man with epidermodysplasia verruciformis (EV) associated with neurofibromatosis type 1 (NF1). The lesions, persisting for more than 15 years, consisted of widespread planar warts on the backs of the hands and wrists, and reddish-brown macules on the trunk, neck and face. During the last 5 years, our patient developed several epithelial tumours, namely solar keratoses, plaques of Bowen's disease and squamous cell carcinomas (SCCs). He also presented with NF1 lesions with neurofibromas, cafe-au-lait macules, axillary freckling and Lisch nodules. He had left tibial bowing. Polymerase chain reaction analysis of the skin lesions demonstrated the presence of human papillomavirus (HPV) 15 in a flat wart, HPV 20 in a plaque of Bowen's disease, and HPV 13 and HPV 20 in an SCC lesion. Both EV and NF1 show an inherited predisposition to malignancy but the molecular mechanism underlying tumour development is not fully understood. The appearance of both diseases in our patient may be a coincidental association but may also contribute to the identification of loci for susceptibility to NF1 and EV on chromosome 17.