We report a case of a 74-year-old female with myxoid adrenocortical adenoma which showed different magnetic resonance imaging findings compared to those of a typical adrenocortical adenoma. The myxoid change in the adrenocortical adenoma is a rare form of degeneration. It presents a considerable diagnostic challenge to both radiologists and clinicians because it can mimic other adrenal tumor types on imaging. The MRI findings of the presented case included a high signal intensity on T2-weighted images similar to that of fluid and delayed progressive enhancement.
Adenoma/*diagnosis/pathology ; Adrenal Gland Neoplasms/*diagnosis/pathology ; Adrenocortical Adenoma/*diagnosis/pathology ; Aged ; Diagnosis, Differential ; Female ; Humans ; Magnetic Resonance Imaging ; Rare Diseases/*diagnosis/pathology

Lymphangioleiomyomatosis is a rare disease which mostly occurs during the reproductive ages of premenopausal women. The presenting symptoms of lymphangioleiomyomatosis include cystic lung lesions, progressive dyspnea on exertion, and recurrent pneumothorax. HRCT shows bilateral diffusely scattered tiny cysts and PFT shows obstructive airflow limitation and decreased diffusion capacity. We report a case of lymphangioleiomyomatosis which presented with recurrent pneumothorax and characteristic cysts in HRCT. The diagnosis was confirmed by pathology. This is the first case of lymphangioleiomyomatosis diagnosed for a postmenopausal woman in Korea. Lymphangioleiomyomatosis must be considered in the diagnosis for a postmenopausal woman with characteristic symptoms and radiologic findings for Korean patients.
Diagnosis ; Diffusion ; Dyspnea ; Female ; Humans ; Korea ; Lung ; Lymphangioleiomyomatosis* ; Menopause ; Pathology ; Pneumothorax* ; Rare Diseases

Atypical carcinoma of the kidney arising from the epithelium of renal collecting duct is a rare disease. Clinical manifestations are mimicking that of the renal cell carcinoma. Diagnosis is confirmed by pathology with immunocytochemical study(cytokeratin) using immunoperoxidase technique. Management is not discussed here. The prognosis is poor with a relatively rapid progression of the disease. We present a case of atypical carcinoma of kidney in a 56 years old male patient with brier review of the literature.
Carcinoma, Renal Cell ; Diagnosis ; Epithelium ; Humans ; Immunoenzyme Techniques ; Kidney* ; Male ; Middle Aged ; Pathology ; Prognosis ; Rare Diseases

Multilocular cystic nephroma is a rare disease, noninherited benign renal neoplasm occurring in both children and adults. It is necessary to make a differential diagnosis from all renal diseases with a cystic component, such as Wilms tumor, armatoma or polycystic dysplastic kidney in childhood. There are about only 200 case reports in the world since Walter Edmunds had described it first. We report a case of multilocular cystic nephroma presented with painless abdominal mass, treated with nephrectomy and confirmed with pathology.
Adult ; Child ; Diagnosis, Differential ; Humans ; Kidney ; Kidney Neoplasms ; Nephrectomy ; Pathology ; Rare Diseases ; Wilms Tumor

Hyperinsulinemic hypoglycemia is a relatively rare disease in childhood period except neonate, but hypoglycemia due to delicate imbalance between glucose production & consumption is evoked easily and left permanent damage to brain at these period. The definition is that serum insulin level is above 10microU/ml when blood sugar level is below the 40mg/dl and so I/G ratio is higher than 0.4. The clinical manifestations are irrtability, frequent feeding and seizures etc. and there is no specific pancreatic pathology in most cases. We experienced 2 cases of hyperinsulinemic hypoglycemia with pancreatic hyperplasia and pancreatic adenoma each other. The diagnosis was made on clinical manifestations, laboratory results, radiologic and pathologic findings. We reported these cases with brief review of literature.
Adenoma ; Blood Glucose ; Brain ; Diagnosis ; Glucose ; Humans ; Hyperplasia ; Hypoglycemia* ; Infant, Newborn ; Insulin ; Pathology ; Rare Diseases ; Seizures

Conjunctival tuberculosis is a very rare disease, but importance of tuberculosis in Korea is high. We experienced a 49 year-old female patient with a small mass like lesion at inferior fornix with conjunctivitis. We performed excisional biopsy. Biopsy result was conjunctival tuberculosis. So we searched other body tuberculosis focus, but, not found. we emphasize differential diagnosis chronic conjunctivitis and conjunctival tuberculosis. Brief clinical history and clinical findings will be presented with pictures of the pathology findings and some literatures will be reviewd.
Biopsy ; Conjunctiva ; Conjunctivitis ; Diagnosis, Differential ; Female ; Humans ; Korea ; Middle Aged ; Pathology ; Rare Diseases ; Tuberculosis*

Alveolar soft part sarcoma (ASPS) is an extremely rare malignant soft tissue sarcoma primarily affecting young patients. It usually occurs in the lower extremities, although it can occur in soft tissue anywhere in the body. However, to our knowledge, there has been no case of primary ASPS originating from the kidney in the literature. We herein present the imaging and clinical features of an ASPS which occurred in a 16-year-old male presented as a palpable mass in the left side of the abdomen.
Adolescent ; Biopsy ; Diagnostic Imaging/methods ; Humans ; Kidney/pathology ; Kidney Neoplasms/*diagnosis/pathology ; Male ; Rare Diseases/*diagnosis/pathology ; Sarcoma, Alveolar Soft Part/*diagnosis/pathology

OBJECTIVE: Spinal intramedullary tuberculoma (SIMT) is rare, accounting for 2/100,000 cases of tuberculosis and only 0.2% of all cases of central nervous system(CNS) tuberculosis. We share our experiences of 11 cases of this entity for improving diagnosis and conceptualize the management of this rare disease. METHODS: The clinical profile, radiological data and management of 11 cases of SIMT which were managed either conservatively or by surgical intervention during last 27 years (1987-2014) were analysed. RESULTS: Male:female ratio was 1.75:1. Five cases had associated pulmonary Koch's. Most common site was thoracic cord. Two cases had concurrent multiple intracranial tuberculoma. Most common presentation was paraparesis. X-ray myelography was performed in two patients in the initial period of study suggesting intramedullary pathology. In the subsequent nine cases who had magnetic resonance imaging (MRI), seven showed typical "target sign" and conglomerate ring lesion. Out of 8 surgically managed patients, 6 cases improved rapidly and in 2 patients gradual improvement was seen in follow-up. Most common indication of surgical excision was rapid neurological deterioration followed by diagnosis in doubt. Histopathology confirmed tuberculous etiology of the intramedullary lesion in all. Clinical and radiological improvement was seen in all 3 conservatively managed patients in follow-up. CONCLUSION: MRI findings of SIMT were specific and proven histologically correct. Surgical intervention may be indicated if there is no response to chemotherapy, the diagnosis is in doubt, or there is a rapid deterioration in neurological function because surgical outcome is good in these circumstances.
Diagnosis ; Drug Therapy ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Myelography ; Paraparesis ; Pathology ; Rare Diseases ; Tuberculoma* ; Tuberculoma, Intracranial ; Tuberculosis

There has been significant progress in the understanding of the pathology and molecular biology of rare ovarian cancers, which has helped both diagnosis and treatment. This paper provides an update on recent advances in the knowledge and treatment of rare ovarian cancers and identifies gaps that need to be addressed by further clinical research. The topics covered include: low-grade serous, mucinous, and clear cell carcinomas of the ovary. Given the molecular heterogeneity and the histopathological rarity of these ovarian cancers, the importance of designing adequately powered trials or finding statistically innovative ways to approach the treatment of these rare tumors has been emphasized. This paper is based on the Rare Ovarian Tumors Conference for Young Investigators which was presented in Tokyo 2015 prior to the 5th Ovarian Cancer Consensus Conference of the Gynecologic Cancer InterGroup (GCIG).
Consensus ; Diagnosis ; Female ; Humans ; Molecular Biology ; Mucins ; Ovarian Neoplasms* ; Ovary ; Pathology ; Population Characteristics ; Rare Diseases ; Research Personnel*

Multiple symmetric lipomatosis (MSL), or Madelung's disease, is a rare disease of unknown etiology. It is characterized by the presence of loose adipose tissue deposits localized in the cervical region and upper body. MSL presenting as bilateral huge gynecomastia is an extremely rare phenomenon. The present report describes a case of MSL in a 66-year-old man. The patients presented with bilateral breast bulging. He had a history of cigarette and alcohol use. His condition was treated with a bilateral nipple-sparing mastectomy. MSL can present as a form of gynecomastia, for its accurate diagnosis and proper treatment of MSL, increasing awareness of the clinical characteristics of the disease is required, especially amongst breast surgeons. Herein, we review the literature and discuss the clinical characteristics, pathology, and surgical treatment of MSL.
Adipose Tissue ; Aged ; Breast ; Diagnosis ; Gynecomastia* ; Humans ; Lipomatosis ; Lipomatosis, Multiple Symmetrical* ; Male ; Mastectomy ; Pathology ; Rare Diseases ; Tobacco Products