Cytology of extramammary Paget's disease of the vulva. A case report.

BACKGROUND: Paget's disease of the vulva (PDV) is a rare entity, with only a few cytologic descriptions having been published on it. Diagnosis is usually delayed because it is often clinically mistaken for some types of dermatosis, and biopsy is usually postponed. CASE: A 56-year-old woman presented with a pruritic, erythematous and ulcerated superficial lesion on the right labium majus of approximately eight months' duration. A vulvar cytologic smear showed a bloody and inflammatory background with many single malignant cells; scarce malignant cell aggregates; and abundant, mature squamous and dyskeratotic cells. The tumor cells were large, with a frequently eccentric, large nucleus. Some binucleated forms were noted. Nucleoli were rare. Cytoplasm varied from pale and delicate to densely basophilic. Intracytoplasmic vacuoles were very rare. Tumor cell aggregates were small and exhibited pseudocannibalism. Short strands of malignant cells arranged in an Indian file pattern were also evident. Histologic examination of a wedge biopsy, wide local excision of the lesion and simple vulvectomy showed PDV. CONCLUSION: Knowledge of the cytologic features of PDV could provide a highly probable cytologic diagnosis of the disease and should alert the clinician to the need for immediate biopsy. Systematic collecting of smears from any eczematous change in the vulva should be considered a first step to early diagnosis of malignancy.

Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome.

BACKGROUND: Muir-Torre syndrome (MTS) is characterized by the co-existence of sebaceous gland tumors of the skin and internal malignancies. Currently, MTS is regarded as a variant of the hereditary non-polyposis colon cancer syndrome (HNPCC). Both MTS and HNPCC are secondary to germline mutations in DNA mismatch repair genes (mainly MSH-2 and MLH-1). METHODS: Cutaneous (eight sebaceous adenomas, one sebaceous carcinoma and one keratoacanthoma) and internal tumors (four colonic adenocarcinomas, two endometrial carcinomas, two transitional cell carcinomas of renal pelvis and ureter, one adenocarcinoma of the small bowel, one ovarian carcinoma and one colonic tubular adenoma) were obtained from six patients with MTS and were subjected to microsatellite instability (MI) analysis, and to immunostaining for MLH-1 and MSH-2. MI was assessed by evaluating three (CA)n dinucleotide repeats (D2S123, D5S346, D17S250) and the mononucleotide tracts BAT 26 and BAT 25. RESULTS: All cutaneous and internal tumors exhibited MI. An immunohistochemical concordance between all tumors within each single patient was obtained in five cases. In these five patients all tumors exhibited a lack of MSH-2 staining, consistent with a germline abnormality in this gene. In the one remaining case, the immunohistochemical staining in the sebaceous adenoma was negative for MLH-1 and positive for MSH-2, consistent with a germline alteration in MLH-1. However, the colonic adenocarcinoma in that patient showed positivity for MSH-2 and an equivocal positivity for MLH-1. CONCLUSIONS: The results confirm that tumors from patients with MTS exhibit MI. Moreover, immunostaining for MLH-1 and MSH-2 may be useful to identify the most probable gene responsible for the disease in each family.

Onicomatricoma: un tumor excepcional de la matriz ungueal / Onychomatricoma: an unusual tumour of the nail matrix

Los tumores ungueales son causa frecuente de distrofia de la uña, especialmente los que crecen bajo la lámina ungueal.Aunque los más frecuentes son los carcinomas in situ o enfermedad de Bowen, también pueden observarse queratoacantomas, porocarcinomas y otros tumores benignos.Caso clínico: Varón de 40 años que consultó por presentar, desde hacía 5 años, distrofia progresiva de la uña del dedo índice de la mano derecha. La ablación ungueal demostró una tumoración con múltiples prolongaciones digitiformes desde la matriz.Resultado: El estudio dermatopatológico permitió comprobar un tumor anexial con diferenciación matricial.Discusión: Destacan dos hechos: a) su aspecto clínico, con aumento de la curvatura transversal de la placa ungueal y bandas longitudinales amarillentas, junto a tumoración en penacho, de aspecto filamentoso, emergente del pliegue proximal comprobada al ablacionar la placa; y b) el cuadro histológico con abundantes columnas de células basófilas y perifería en empalizada que dan lugar a formaciones paraqueratósicas sin capa granulosa. Estos hallazgos permitieron confirmar el diagnóstico de onicomatricoma. (AU)