We have previously demonstrated, by the combined application of two degenerate polymerase chain reaction primer sets, the presence of human papillomavirus (HPV) DNA in 91% of cutaneous squamous cell cancers from renal allograft recipients, with multiple types being present in one-third of these tumors. Five HPV types--HPV 20, HPV 23, HPV 38, DL40, and DL267--accounted for 73% of positive results. These HPV types are all related to the epidermodysplasia verruciformis group, and HPV 38 was originally isolated from a melanoma. The aims of this study were to determine: (i) whether HPV DNA could readily be demonstrated in skin tumors, as well as in perilesional skin, of immunocompetent patients using two polymerase chain reaction primer sets; (ii) the prevalence of infections in normal skin; and (iii) the prevalence of HPV 38 or HPV 38 related viruses in melanoma. The HPV types detected in lesions from renal allograft recipient were present not only in the perilesional skin and tumors of immunocompetent patients, but also in 35% of normal skin biopsies. HPV DNA was present in 13% of the melanoma samples, but none harbored HPV 38 DNA. We identified four putatively new HPV types. Infections with different types of human papillomavirus are widespread and often occur in clinically normal skin. In vitro studies are required to determine the specific molecular mechanisms by which these HPV types may be involved in the etiology of nonmelanoma skin cancer.
Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis with cutaneous, neurological, ophthalmological and dental manifestations. 80% of cases have a deletion mutation in the nuclear factor-κB (NF-κB) essential modulator (NEMO) gene located on chromosome Xq28. This gene is required for activation of the transcription factor NF-κB which is central to many immune, inflammatory and apoptotic pathways.The authors present two cases of IP to demonstrate the varied presenting features of this condition. The first case is a 9-month-old girl who presented mildly unwell, with erythematous lines on her abdomen in a “Chinese-writing” distribution. Further examination showed hyperkeratotic lesions on her calves, and a hyperkeratotic papule and blister which had been present on her hand since birth. Her mother had a history of two spontaneous abortions. She had linear hypopigmentation on the legs and only 16 teeth. A diagnosis was made of a viral exanthem arising on a background of IP. She is now 5 years old and has linear hyperpigmentation on her legs, teeth abnormalities and patchy alopecia. Her mother has a confirmed mutation in the NEMO gene.The second case is a 3-month-old baby girl who had developed seizures on the second day of life. An MRI showed two unusual areas on the lateral ventricle which had been interpreted as small areas of ischaemia. She developed linear erythematous papules, blistering and crusting on her groin and trunk on day 4 and a clinical diagnosis of IP was made. Genetic analysis confirmed a mutation in the NEMO gene. Her mother has no mutation in the NEMO gene.There are four cutaneous stages classically seen in IP from birth: vesicular, verrucous, hyperpigmented and, in adulthood, an atrophic hypopigmented stage. In both of our cases, the presenting features were not the classical cutaneous features of IP: case 1 presented with a viral exanthem within the lines of Blaschko; case 2 presented with neurological involvement. The authors present these two cases of IP as examples of the varied presentations of this condition to increase awareness of possible presenting features of this unusual genodermatosis.
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