Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia

Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.

A Case of Significant Endobronchial Injury due to Recurrent Iron Pill Aspiration / 결핵및호흡기질환

Gastric mucosal damage by iron pills is often reported. However, iron pill aspiration is uncommon. Oxidation of the impacted iron pill causes bronchial mucosal damage that progresses to chronic bronchial inflammation, necrosis, endobronchial stenosis and rarely, perforation. We reported a case of a 92-year-old woman with chronic productive cough and significant left-sided atelectasis. Bronchoscopy revealed substantial luminal narrowing with exudative inflammation of the left main bronchus. Bronchial washing cytology showed necroinflammatory exudate and a small amount of brown material. Mucosal biopsy showed diffuse brown pigments indicative of ferrous pigments, crystal deposition, and marked tissue degeneration. After vigorous coughing, she expectorated dark sediments and her symptoms and radiological abnormalities improved. There are a few such reports worldwide; however, this was the first case reported in Korea. Careful observation of aspiration-prone patients and early detection of iron pill aspiration may prevent iron pill-induced bronchial injury.

Intrathoracic Desmoid Tumor Presenting as Multiple Lung Nodules 13 Years after Previous Resection of Abdominal Wall Desmoid Tumor / 결핵및호흡기질환

Desmoid tumors are rare soft tissue tumors considered to have locally infiltrative features without distant metastasis until now. Although they are most commonly intraabdominal, very few cases have extra-abdominal locations. The origin of intrathoracic desmoid tumors is predominantly the chest wall with occasional involvement of pleura. True intrathoracic primary desmoid tumors with no involvement of the chest wall or pleura are extremely rare. We recently experienced a case of true intrathoracic desmoid tumor presenting as multiple lung nodules at 13 years after resection of a previous intraabdominal desmoid tumor.

Papular Mucinosis in a Renal Transplantation Recipient / 대한이식학회지

Papular mucinosis (PM, scleromyxoedema) is a rare dermatologic disease. It is histologically characterized by a focal dermal deposit of mucin within the skin. Although PM is accepted as an idiopathic disease in most cases, some authors argued that it may be a cutaneous manifestation of a systemic disease. Here, we describe a 68-year-old male kidney transplantation recipient with a complaint of intractable itching sensation on the forehead. We diagnosed the skin lesions as PM, which were improved after cyclosporine dose reduction.

A Case of Peripheral Bone Tuberculosis Mimicking Rheumatoid Arthritis / 대한내과학회지

A 30 year-old female visited our out-patient clinic with painful joint swelling in both hands and feet. Because she had tested positive for rheumatoid factor, and her inflammatory markers were elevated, the case was initially classified as rheumatoid arthritis (RA), according to the 2010 American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) classification criteria. However, radiographic examinations, including simple radiography and MRI, revealed that her peripheral bone lesions were compatible with bone tuberculosis. The patient also exhibited pulmonary tuberculosis (TB) on chest X-ray and CT examinations. She was treated with isoniazid (INH), rifampicin (RFP), ethambutol (EMB), and pyrazinamide (PZA), and exhibited a good response to these medications. The patient was diagnosed as having bone TB, and her peripheral bone lesions were resolved using anti-TB treatment. This was an uncommon case of bone TB mimicking RA.