Miliary osteoma cutis of the face is a form of primary osteoma cutis. We report a case of miliary osteoma cutis on the jaw of a 55-year-old female. She presented with several 2~3 mm sized, skin-colored firm papules over both lower jaws for 5 years. Skin biopsy was performed and the specimen showed numerous osteocytes and osteoblasts in the bony tissue which was located in the deep dermis.
Biopsy ; Bone Diseases, Metabolic ; Female ; Humans ; Jaw ; Middle Aged ; Ossification, Heterotopic ; Osteoblasts ; Osteocytes ; Osteoma ; Skin ; Skin Diseases, Genetic

Erythromelalgia is a rare clinical syndrome characterized by redness and painful episodes of the feet and hands, which is triggered by heat or exercise. A 22-year-old male soldier presented with paroxysmal redness of the both feet associated with pain and tenderness upon heat stimulation, including wearing military shoes for periods of over 30 minutes. He had been treated of essential hypertension with dichlorothiazide and had a familial medical history of essential hypertension with his mother and brother. A 21-year-old male soldier also presented with paroxysmal redness of both feet and hands associated with pain and tenderness upon heat stimulation. By searching for the underlying or combined diseases of the erythromelalgia, he was also found to have essential hypertension. Herein, we report two cases of secondary erythromelalgia associated with essential hypertension.
Erythromelalgia ; Foot ; Hand ; Hot Temperature ; Humans ; Hypertension ; Male ; Military Personnel ; Mothers ; Shoes ; Siblings ; Young Adult

Recent genomewide association studies of large samples have identified genes that are associated with blood pressure. The Global Blood Pressure Genetics (Global BPgen) and Cohorts for Heart and Aging Research in Genome Epidemiology (CHARGE) consortiums identified 14 loci that govern blood pressure on a genomewide significance level, one of which is CASZ1 confirmed in both Europeans and Asians. CASZ1 is a zinc finger transcription factor that controls apoptosis and cell fate and suppresses neuroblastoma tumor growth by reprogramming gene expression, like a tumor suppressor. To validate the function of CASZ1 in blood pressure, we decreased Casz1 mRNA levels in mice by siRNA. Casz1 siRNA reduced mRNA levels by 59% in a mouse cell line. A polyethylenimine-mixed siRNA complex was injected into mouse tail veins, reducing Casz1 mRNA expression to 45% in the kidney. However, blood pressure in the treated mice was unaffected, despite a 55% reduction in Casz1 mRNA levels in the kidney on multiple siRNA injections daily. Even though Casz1 siRNA-treated mice did not experience any significant change in blood pressure, our study demonstrates the value of in vivo siRNA injection in analyzing the function of candidate genes identified by genomewide association studies.
Aging ; Animals ; Apoptosis ; Asian Continental Ancestry Group ; Blood Pressure ; Cell Line ; Cohort Studies ; Gene Expression ; Genome ; Heart ; Humans ; Kidney ; Mice ; Neuroblastoma ; RNA, Messenger ; RNA, Small Interfering ; Transcription Factors ; Veins ; Zinc Fingers

No abstract available.
Hepatitis C, Chronic ; Hepatitis, Chronic ; Humans ; Interferon-alpha ; Interferons ; Polyneuropathies ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Purpose: This study aimed to analyze the association between fibrotic focus (FF) and tumor-infiltrating lymphocytes (TILs) and to determine the prognostic significance of FF and TILs in the breast according to its molecular subtypes. Methods: The study included patients who underwent surgical treatment for breast cancer, for whom tissue samples were available. FF within the tumor and TILs in breast cancer tissues were evaluated. Clinicopathological characteristics were reviewed from medical records. Results: FF and TILs were present in 31.3% and 81.7% of the patients, respectively. FF and TILs showed a positive correlation. FF were significantly associated with tumor size, lymphovascular invasion, regional lymph node metastasis, and tumor stage. TILs were significantly associated with menopausal status, histologic grade, tubule formation, nuclear grade, mitosis, human epidermal growth factor receptor 2 (HER2) overexpression, molecular subtype of breast cancer, and the number of cluster of differentiation 8+ T cells. In TIL-positive cases, FF were significantly associated with tumor size, regional lymph node metastasis, extranodal extension, lymphovascular invasion, tumor stage, recurrence-free survival, and overall survival (OS). Based on HER2 overexpression status, TILs were significantly associated with tumor size, tumor necrosis, histologic grade, estrogen receptor status, and epidermal growth factor receptor expression in HER2-negative breast cancer. Further, in HER2-negative breast cancer, OS and recurrence-free survival were significantly associated with FF. The OS of FF-positive patients was significantly shorter than that of FF-negative patients. Conclusion Our study showed an association between FF and TIL levels in breast cancer, indicating that FF are associated with poor prognostic factors for breast cancer and poor OS, and that TILs are associated with HER2 overexpression. However, further studies are needed to elucidate the interactions between FF and TILs in breast cancer.

Graves' disease is commonly associated with a variety of muscle abnormalities from muscle weakness, paralysis to exophthalmopathy. There are several reports of Graves disease associated with polymyositis and myasthenia gravis. It is generally uncommon that muscle enzyme is increased in patients with hyperthyroidsm without polymyositis. We report thyrotoxic myopathy presented as myalgia without muscle weakness but with increased muscle enzyme, which was improved by anti-thyroid drug. A 33 year-old man developed severe proximal myalgia and headache. The creatinine kinase level was elevated. But there was no specific finding in electromyography. Muscle biopsy showed increased number of mitochondria and decreased glycogen content. There was no inflammatory cell infiltration. Diagnosis of hyperthyroidism due to Graves' disease was made, followed by the treatment with prothiouracil 300 mg per day. Five day after the treatment, myalgia improved, and serum CPK was decreased. He never complain myalgia after thyroid function was normalized.
Adult ; Biopsy ; Creatinine ; Diagnosis ; Electromyography ; Glycogen ; Graves Disease* ; Headache ; Humans ; Hyperthyroidism ; Mitochondria ; Muscle Weakness ; Muscular Diseases ; Myalgia* ; Myasthenia Gravis ; Paralysis ; Phosphotransferases ; Polymyositis ; Thyroid Gland

Poststeroid panniculitis is a very rare complication of corticosteroid therapy, and this is characterized by firm subcutaneous nodules on the cheek, neck or upper trunk within days or weeks following rapid systemic steroid tapering or cessation in childhood. It can be identified by the clinical features and a history of using steroid, and if necessary, with a biopsy. There have been just 2 reported cases in adulthood, one was an autopsy case of a 28-year woman and another was a 60-year-old man after massive administration of corticosteroids for congestive heart failure. Herein, we report a case of panniculitis accompanied by Cushing's syndrome in an adult after long-term misuse of systemic steroid for rosacea.
Adrenal Cortex Hormones ; Adult ; Autopsy ; Biopsy ; Cheek ; Cushing Syndrome ; Female ; Heart Failure ; Humans ; Middle Aged ; Neck ; Panniculitis ; Rosacea

The diagnosis of drowning is one of the most difficult in forensic pathology. One of the most common autopsy findings in drowning cases is a heavy, edematous lung as the result of water that is aspirated into the lungs before death. There are several controversial findings and arguments about the lung weight as a marker of drowning. The aim of the present study is to examine the difference in the lungs to the spleen weight ratio between seawater and freshwater drowning, compared with asphyxiation and acute cardiac death. This study compared the weight ratio of the lungs to the spleen for 29 cases of drowning (24 males, 5 females), 30 cases of mechanical asphyxiation (16 males, 14 females), and 37 cases of acute cardiac death (30 males, 7 females). This study presented significant differences in the lungs to the spleen weight ratio between drowning and the other causes of death . Therefore, these findings suggest that the ratio may be a useful index for accurate diagnosis of death by drowning.
Autopsy ; Cause of Death ; Death ; Diagnosis ; Drowning* ; Forensic Pathology ; Fresh Water ; Humans ; Lung* ; Male ; Seawater ; Spleen* ; Water

Pulmonary mucoepidermoid carcinoma (MEC) is a rare form of lung cancer that originates from submucosal glands of tracheobronchial tree. Unlike low-grade tumor with benign nature, high-grade case is even rarer and has aggressive clinical features with no definite treatment option. Here, we report a case of high-grade pulmonary MEC with fulminant clinical course. A 74-year-old man presented with cough, sputum and mental change. Chest imaging showed massive mediastinal lymphadenopathy with obstructive pneumonia, and multiple metastases in lung and adrenal gland. Bronchoscopy showed polypoid masses obstructing right main bronchus and bronchus intermedius. Histopathology revealed a mixture of glandular structure lined with mucussecreting cells and nests of squamoid cells with nuclear atypia and pleomorphism, which is compatible with high-grade MEC. We intensively treated the patient with combination antibiotics and ventilator care. However, the patient did not respond to the treatment and rapidly deteriorated, and finally expired a month after diagnosis.
Adrenal Glands ; Aged ; Anti-Bacterial Agents ; Bronchi ; Bronchoscopy ; Carcinoma, Mucoepidermoid* ; Cough ; Diagnosis ; Humans ; Lung ; Lung Neoplasms ; Lymphatic Diseases ; Neoplasm Metastasis ; Pneumonia ; Sputum ; Thorax ; Ventilators, Mechanical

BACKGROUND: The incidence of invasive aspergillosis has been increasing as the number of severe immunocompromised hosts has increased. We reviewed representative cases of invasive aspergillosis to describe clinical manifestations and treatment outcome. METHODS: We identified 40 cases of invasive aspergillosis on the ground of pathologic and radiologic findings from January 1991 to December 2000 and reviewed medical records and laboratory data. RESULTS: Forty cases of invasive aspergillosis included 28 'definite' cases and 12 'probable' cases. Major involved organs of invasive aspergillosis were lung (n=23, 57.5%), sinus (n=11, 27.5%), brain (n=3, 7.5%), spine (n=1, 2.5%), skull (n=1, 2.5%), and small bowel (n=1, 2.5%). Underlying diseases and risk factors were hematologic malignancies (n=21, 52.5%), high-dose steroid treatment (n=8, 20%), post-transplantation of solid organ (n=2, 5%), and ectopic ACTH syndrome (n=1, 2.5%). Immunocompetent hosts including DM patients were 8 cases (20%) and their major involved sites were sinus (n=4) and brain (n=2). Crude mortality rate of total invasive aspergillosis after 3 months and 12 months were 30% and 47.5%, respectively. 3-month and 12-month mortality rate for pulmonary aspergillosis (n=23) were 39%, 61% and those for extrapulmonary aspergillosis (n=17) were 18 %, 29%. Patients with hematologic malignancy (n=21) were in 33%, 57%, other immunocompromised hosts (n=11) were in 45%, 45%, and immunocompetent hosts (n=8) were in 0%, 25%. Patients with aggravated underlying diseases and sustained risk factors (n=20) were in 60%, 70% and patients with improved underlying diseases and no risk factor (n=20) were in 0%, 20%. CONCLUSION: Invasive aspergillosis mainly developed in severe immunocompromised hosts, but invasive sinus aspergillosis and cerebral aspergillosis occasionally developed in apparently immunocompetent hosts. The degree of immunosuppression and severity of underlying diseases affected the treatment outcome of invasive aspergillosis.
ACTH Syndrome, Ectopic ; Aspergillosis* ; Brain ; Hematologic Neoplasms ; Humans ; Immunocompromised Host ; Immunosuppression ; Incidence ; Lung ; Medical Records ; Mortality ; Pulmonary Aspergillosis ; Risk Factors ; Skull ; Spine ; Treatment Outcome*