Epidermal nevi (EN) are benign lesions presenting at birth or in childhood. Based on the occurrence of fibroblast growth factor receptor 3 (FGFR3) mutations in seborrheic keratosis and urothelial carcinomas (UC), and the identification of two young patients with EN and UC, we hypothesized that mutations might occur in EN. The R248C mutation was found in 6/23 (26.1%) EN but it was absent from unaffected skin. In two patients with EN and UC, both lesions were FGFR3 wild type. Our findings indicate that: (1) FGFR3 mutations occur in mosaicism and can cause EN and (2) other genes are involved in EN.

Autoinfective strongyloidiasis is often fatal in immunosuppressed patients or in immunocomprised hosts. An interesting case ofStrongyloides stercolarishyperinfection was seen in an immunocompetent patient. This report describes a case of fatal strogyloidiasis in a 79 year old man, who had suffered gastrointestinal discomfort for years, and who presented because of respiratory illness. A chest radiograph showed an irregular mass close to the mediastinum and interstitial infiltrates, but blood eosinophilia was not observed. Cytological examination of the samples obtained from bronchial aspiration and brushing identified several filariform larvae. Thus, cytology was essential for the correct diagnosis in this patient and is a very reliable method to diagnose lung parasitosis.

No abstract

Mammary hamartoma is a breast lesion rarely reported by fine-needle aspiration cytology (FNAC). We report on our experience of FNAC in nine cases confirmed by biopsy. We searched hospital case files for mammary hamartoma or similar lesions (fibrolipomas, lipomas, fibromas, etc.), and cases included were only those in which both FNAC and a histopathological study had been performed. The cytological features that were analysed included epithelial components, mesenchymal fragments and isolated cells dispersed in the background. The patients ranged in age from 25 to 58 years (mean 40 years), and the lesions were predominantly in the right breast and upper outer quadrant. The duration varied from 1 to 20 years. Mammographic features were characteristic revealing well-circumscribed masses of heterogeneous radiodensity and by ultrasonography were hypoechoic without calcification. Grossly, these lesions were oval to round, well-demarcated masses, ranging in diameter from 10 to 80 mm. The tumours were firm, rubbery and white, consisting largely of dense fibroconnective tissue with variable amounts of adipose tissue and glandular elements. Cytological samples showed two components, epithelial and mesenchymal. The cellularity was variable and was composed of lobular cells forming acini, ductal cells, occasional apocrine and foamy cells; myoepithelial cells and isolated naked nuclei were also observed. Adipose tissue and dense fibrous tissue were observed, occasionally with epithelial cells attached, and this finding was an important feature for diagnosis. We considered that the cytological findings could help to diagnose mammary hamartoma, FNAC making a rapid and very important technique for the diagnosis of this pathology.

Epidermal naevus syndrome was first described by Solomon et al. in 1968, based on a study of 12 patients. Herein we report the case of a 20-year-old female diagnosed with epidermal naevus syndrome at the age of 3 years. Subsequently she experienced several different symptoms and at the last exploration a suspicious lesion was found in her bladder. The definitive pathology diagnosis was transitional cell carcinoma of the bladder, which is extremely rare in patients aged <21 years. It seems that this neoplastic lesion was directly related to the essential pathology of the patient, namely epidermal naevus syndrome.