Familial primary localized cutaneous amyloidosis (FPLCA) is an autosomal-dominant disorder associated with chronic skin itching and deposition of epidermal keratin filament-associated amyloid material in the dermis. FPLCA has been mapped to 5p13.1-q11.2, and by candidate gene analysis, we identified missense mutations in the OSMR gene, encoding oncostatin M-specific receptor beta (OSMRbeta), in three families. OSMRbeta is a component of the oncostatin M (OSM) type II receptor and the interleukin (IL)-31 receptor, and cultured FPLCA keratinocytes showed reduced activation of Jak/STAT, MAPK, and PI3K/Akt pathways after OSM or IL-31 cytokine stimulation. The pathogenic amino acid substitutions are located within the extracellular fibronectin type III-like (FNIII) domains, regions critical for receptor dimerization and function. OSM and IL-31 signaling have been implicated in keratinocyte cell proliferation, differentiation, apoptosis, and inflammation, but our OSMR data in individuals with FPLCA represent the first human germline mutations in this cytokine receptor complex and provide new insight into mechanisms of skin itching.
Fine-needle aspirates from two histologically, immunohistochemically, and ultrastructurally confirmed mammary myofibroblastomas (MM) of two elderly women revealed abundant, randomly arranged single and clustered benign spindle-shaped mesenchymal cells with scant cytoplasm and elongated or oval nuclei displaying a finely granular chromatin pattern and inconspicuous nucleoli. In one case a few cells showed inconspicuous nuclear grooves. The aspirated tumor cells from the other case stained positively with desmin and CD34 antibodies and negatively with cytokeratin and S-100 protein antibodies, in keeping with an MM. A review of the literature was briefly presented.
Abstract. We report a 47 year-old man from the State of Mato Grosso do Sul, Brazil, with unifocal tibial paracoccidioidomycosis. A radiograph showed an osteolytic lesion on the tibial middle third diaphysis. The diagnosis was confirmed by histopathologic analysis, and treatment with sulfamethoxazole and trimethoprim was started. After three months, the patient showed significant clinical improvement. Ten months after treatment, the patient showed lesion bone healing. This case describes the rare occurrence of an osteolytic lesion caused by endemic Paracoccidioides brasiliensis in Latin America.
A 41-yr-old man with a long history of cigarette smoking presented to his family physician with an intermittent cough of 4-wk duration. Physical examination revealed no remarkable findings. A chest roentgenogram showed a 3-cm mass lesion located near the hilum of his right lung. A chest CT-scan confirmed the lesion to be a well-demarcated and solid tumor located in the lobar bronchus of the right middle lobe. No hilar lymphadenopathy was identified. The patient underwent a bronchoscopy, and a tumor involving the lobar bronchus of the right middle lobe was visualized. A cell sample was obtained by bronchial wash, and the bronchial lesion was brushed two times. Four direct smears prepared from two bronchial brushes and four cytospin smears prepared from the bronchial wash were fixed in 95% ethanol and stained with Papanicolaou method. Two tumor tissue fragments measuring 3 mm in greatest dimension obtained by biopsy were fixed in formalin and processed for routine histologic examination.The bronchial wash was negative for malignant cells. The four smears prepared from two bronchial brushes were cellular and revealed irregular, monolayered sheets of malignant epithelial cells showing clear, ill-defined cytoplasm, slightly pleomorphic, round or oval nuclei and inconspicuous nucleoli. In a few tumor cell groups nuclear crowding and overlapping were noted. The cytologic findings were in keeping with an adenocarcinoma with clear cell change (Fig. 1). However, a pulmonary welldifferentiated fetal adenocarcinoma (WFA) was not ruled out with certainty.Two Papanicolaou-stained smears containing tumor cells were stained with periodic acid-Schiff (PAS) and with PAS with prior diastase digestion (PASD). The tumor cell cytoplasm reacted positively with PAS and negatively with PASD, indicating a nonmucus secreting adenocarcinoma that was rich in glycogen contents. One Papanicolaou-stained smear was stained with commercial chromogranin antibody by the avidin-biotin-complex (ABC) technique without prior destaining. The tumor cells that were present reacted positively with this antibody. The cytologic, cytochemical, and immunocytochemical features of the patient's tumor were in keeping with a pulmonary WFA. The two biopsied tumor tissue fragments showed severe crushing artifacts and were nondiagnostic.The patient's lung tumor was subsequently removed by right pneumonectomy. The resected right lung showed a round, solid malignant tumor arising from the middle lobe lobar bronchus with minimal invasion into the surrounding lung parenchyma. Several tumor tissue blocks were fixed in formalin and processed for histologic, histochemical, and immunohistochemical studies. Histologically, the lung tumor consisted of branching tubules lined by a single layer of columnar epithelial cells with clear cytoplasm, basally located, oval, slightly pleomorphic, hyperchromatic nuclei and inconspicuous nucleoli (Fig. 2). In most tumor cells a large supranuclear cytoplasmic clear vacuole was present. The stroma contained capillary blood vessels and scatt...
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