Airway Obstruction ; complications ; etiology ; physiopathology ; Asphyxia ; etiology ; physiopathology ; Fibroma ; complications ; pathology ; Humans ; Infant, Newborn ; Oropharyngeal Neoplasms ; complications ; pathology ; Rare Diseases

Lymphangioleiomyomatosis (LAM) is a rare disease usually occurring in young women of child-bearing age. It is characterized by a distinctive proliferation of lymphatic smooth muscle cells, especially occurring in the pulmonary parenchyme. The majority of primary LAM occurs in the lung, but there are a few reports of extrapulmonary cases. We report a case of a 21-yr-old female who first complained of low abdominal pain and was referred from a local clinic with the impression of an ovarian cyst. Gynecologic ultrasonography revealed a large posterior pelvic mass with an irregular echogenicity measuring 9.7x4.2 cm in size. Pelviscopy showed a large, thin walled, partly cystic, pelvic mass. The mass was partly removed. Microscopically, the mass was characterized by a haphazard proliferation of smooth muscle cells arranged in fascicular, trabecular, and papillary patterns around a ramifying network of endothelium-lined spaces. The cells were plump or epithelioid with abundant eosinophilic cytoplasm and showed a positive reaction for both alpha-smooth muscle actin and HMB-45 antigen. Surgical and pathological findings were consistent with pelvic retroperitoneal LAM. Despite the numerous treatment attempts, the patient suffered from intractable chylous ascites and developed pulmonary LAM and died due to severe respiratory distress.
Abdominal Pain/diagnosis/etiology ; Adult ; Diagnosis, Differential ; Female ; Humans ; Lung Neoplasms/complications/*diagnosis ; Lymphangioleiomyomatosis/complications/*diagnosis ; Pelvic Neoplasms/complications/*diagnosis ; Rare Diseases/complications/diagnosis

PURPOSE: Leiomyoma of the urethra is a rare disease entity. We treated leiomyoma of the female urethra surgically during the period from 1981 to 1997 and retrospectively reviewed the results. MATERIALS AND METHODS: We have experienced 11 cases of the leiomyoma of the female urethra. History taking, clinical symptoms, urinalysis, laboratory findings, cystoscopic finding, postoperative complication and follow-up examination were observed retrospectively. Also, we checked pelvic computed tomography in 2 cases which had been detected uterine mass at pelvic ultrasonography. RESULTS: Average age of the patients was 40 years (28-51) and the chief complaint was a painless mass of anterior vaginal wall. All masses were removed surgically and confirmed as leiomyoma histologically. The uterine leiomyoma was combined in 2 cases. There were no recurrence or complication after surgery until now. CONCLUSIONS: A surgical removal of the leiomyoma of the female urethra provided a long term disease free survival and the search for the associated pelvic leiomyoma should be done.
Disease-Free Survival ; Female* ; Follow-Up Studies ; Humans ; Leiomyoma* ; Postoperative Complications ; Rare Diseases ; Recurrence ; Retrospective Studies ; Ultrasonography ; Urethra* ; Urinalysis

Chronic invasive fungal sinusitis is a relatively rare disease that can span from months to years in its clinical course and is described to be more common in immunocompetent patients. Most cases of chronic invasive fungal sinusitis are due to the Aspergillus species and have been treated with a combination of surgery and antifungal agents. However, the incidence is increasing with frequent use of antibiotics, cytotoxic drugs, and systemic corticosteroids. We report a case of chronic invasive fungal sinusitis with orbital complication in the patient who underwent endoscopic sinus surgery for chronic rhinosinusitis. Although chronic invasive fungal sinusitis is relatively rare, it is important for otolaryngologists to be aware of its diagnosis and treatment.
Adrenal Cortex Hormones ; Antibiotics, Antineoplastic ; Antifungal Agents ; Aspergillosis ; Aspergillus ; Diagnosis ; Endoscopy ; Fungi ; Humans ; Incidence ; Orbit ; Postoperative Complications ; Rare Diseases ; Sinusitis*

Adult ; Asian Continental Ancestry Group ; Biopsy, Needle ; Disease Progression ; Erythema ; complications ; physiopathology ; Female ; Foot Dermatoses ; complications ; diagnosis ; pathology ; Hand Dermatoses ; complications ; diagnosis ; pathology ; Humans ; Immunohistochemistry ; Pemphigus ; diagnosis ; pathology ; Prognosis ; Pruritus ; complications ; physiopathology ; Rare Diseases ; Singapore ; Syndrome

BACKGROUND: Tuberculous abscess of the chest wall is a very rare disease. Few articles have reported on it and those that have enrolled few patients. To determine the characteristics of this disease and to suggest an optimal treatment strategy, we reviewed patients treated by surgical management. MATERIALS AND METHODS: Between October 1981 and December 2009, 68 patients treated by surgical management for a tuberculous abscess of the chest wall were reviewed retrospectively. RESULTS: Of 33 men and 35 women, 31 patients had a current or previous history of tuberculosis. The main complaints were chest pain, a palpable mass, pus discharge, and coughing. A preoperative bacteriologic diagnosis was performed in 12 patients. Abscess excision was performed in 54 cases, abscess cavity excision and partial rib resection in 13, and abscess excision and partial sternum and clavicle excision in 1 case. Postoperative wound infection was noted in 16 patients and a secondary operation was performed in 1 patient. Recurrence occurred in 5 patients (7.35%). Reoperation with abscess excision and partial rib resection was performed in all of the 5 cases. CONCLUSION: Complete excision of the abscess and primary closure of the wound with obliteration of space would decrease postoperative complications. Anti-tuberculosis medication may reduce the chance of recurrence.
Abscess ; Chest Pain ; Clavicle ; Cough ; Female ; Humans ; Male ; Postoperative Complications ; Rare Diseases ; Recurrence ; Reoperation ; Ribs ; Sternum ; Suppuration ; Surgical Wound Infection ; Thoracic Wall ; Thorax ; Tuberculosis

Eighteen patients with primary hyperparathyroidism were treated by one of the authors (SKO) from 1981 through 1988 at the Department of Surgery, Seoul National University Hospital and the data were analyzed retrospectively. Eighteen patients comprised 6 males and 12 females, with the male to female ratio of 1 to 2. The age distribution was between 18 and 64 years. The chief complaints were associated with skeletal symptoms in 9 urinary symptoms in 5, and neurologic manifestation in 1 patient. There were 3 patients with asymptomatic hypercalcemia. All patients showed hypercalcemia and hypophosphatemia was found in 11 patients. Serum PTH level was elevated in 13 cases. performing preoperative localization with computed tomorgam, ultrasonogram and thallium-technetium subtraction scan, positive localization was made in 62.5% (10/16), 53.8% (7/13) and 85.7% (12/14), respectively. one patient, angiography and selective venous sampling were peformed and positive localization was made. All patients were treated by surgery. There were 17 patients with solitary adenoma and one with double tumors. Pathologic findings revealed adenoma of the parathyroid in all patients except one which was proved later to be carcinoma. There were no recurrent cases except one with carcinoma. There were no postoperative complications. primary hyperparathyroidism is a very rare disease in Korea. Causes of primary hyperparathyroidism in our study was confined to tumors of the parathyroid, such as adenoma and carcinoma.There was no hyperplasia causing primary hyperparathyroidism. Thallium-technetium subtraction scan was proved to be the best method for localization of the parathyroid tumors Excision of the tumor with involved parathyroid followed by frozen-section biopsy of the univolved parathyroid was the best way to treat primary hyperparathyroidism in our study.
Adenoma ; Age Distribution ; Angiography ; Biopsy ; Female ; Humans ; Hypercalcemia ; Hyperparathyroidism ; Hyperparathyroidism, Primary* ; Hyperplasia ; Hypophosphatemia ; Korea ; Male ; Methods ; Neurologic Manifestations ; Postoperative Complications ; Rare Diseases ; Retrospective Studies ; Seoul ; Ultrasonography

Nutcracker syndrome is a rare disease caused by the compression of the renal vein between the aorta and superior mesenteric artery. It is known to cause of venous hypertension, peripelvic and periureteral varicosities. Clinical manifestations include varicocele, hematuria, and flank or abdominal pain. Surgical correction is needed in nutcracker syndrome cases with severe or recurrent hematuria and abdominal or flank pain. Reanastomosis of the renal vein at 5cm below the original insertion site at the inferior vena cava is the one of the most common corrective methods and the transabdominal approach is usually employed. This disease usually appears in healthy young people and in order to decrease postoperative complications such as intestinal obstruction and bowel adhesion by avoiding unnecessary intraperitoneal manipulation, the authors used the extraperitoneal approach through a flank incision. We report because, in selected cases, we consider that this extraperitoneal approach is one of the alternative methods for the usual transperitoneal approach.
Abdominal Pain ; Aorta ; Flank Pain ; Hematuria ; Hypertension ; Intestinal Obstruction ; Mesenteric Artery, Superior ; Postoperative Complications ; Rare Diseases ; Renal Veins ; Varicocele ; Vena Cava, Inferior

OBJECTIVE: To analyze the clinical characteristics and genetic etiology of a child with Helsmoortel-Van der Aa syndrome (HVDAS). METHODS: Genetic testing was carried out for the child and his parents, and the clinical phenotypes and genetic variants of reported cases were summarized through literature review. RESULTS: The child has featured peculiar facies, accompanied by autism spectrum disorder, intellectual disability and motor retardation, and curving of the second toes, which was unreported previously. Genetic testing revealed that the child has harbored a heterozygous c.2157C>G (p.Tyr719*) variant of the ADNP gene, which was not found in either parent. Based on the guidelines of the American College of Medical Genetics and Genomics, this variant was rated as pathogenic. Among 80 HVDAS cases described in the literature, most had various degrees of behavioral abnormalities, intellectual disability, language retardation and motor retardation, with common features involving the nervous system, gastrointestinal system and eye. Variants of the ADNP gene mainly included frameshift variants and nonsense variants, with the hotspot variants including p.Tyr719*, p.Asn832lysfs*81 and p.Arg730*. CONCLUSION The clinical phenotype of the child is closely correlated with the heterozygous variant of the ADNP gene, which expanded the phenotypic spectrum of HVDAS. As HVDAS may involve multiple systems and have high phenotypic heterogeneity, genetic testing technology can facilitate accurately diagnose.
Abnormalities, Multiple/genetics* ; Autism Spectrum Disorder/genetics* ; Autistic Disorder/genetics* ; Homeodomain Proteins/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Rare Diseases/complications*

BACKGROUND AND OBJECTIVES: Substernal goiter, defined as any thyroid enlargement that has greater mass inferior to the thoracic inlet, is a relatively rare disease with a potential for malignancy and the risk of postoperative airway obstruction secondary to tracheomalacia. We investigated clinical characteristics of substernal goiters and analyzed the results of the treatment to establish modalities of the surgical management. MATERIALS AND METHODS: We examined, retrospectively, ten cases of substernal goiters and reviewed their clinical features, radiological findings, histopathologic findings, operative findings and postoperative complications. RESULTS: We found tracheal deviations in six patients, tracheomalacia in three patients and calcification in two patients. We performed partial thyroidectomy for 9 cases and total thyroidectomy and superior mediastinal dissection were done for a case which revealed to be follicular carcinoma. The main histopathologic findings were multinodular goiter in five cases, followed by follicular adenoma, and follicular carcinoma in one case. Endotracheal intubation was removed after 24 hours postoperatively for six cases who showed severe tracheal compression and tracheal deviation and the tracheopexy (tracheal suspension) to the sternum was performed for one case among them. CONCLUSION: Because of the possibilities of malignancy and the acute airway obstruction, the surgical treatment and careful postoperative airway management should be emphasized for substernal goiter.
Adenoma ; Airway Management ; Airway Obstruction ; Bays ; Goiter ; Goiter, Substernal* ; Humans ; Intubation, Intratracheal ; Postoperative Complications ; Rare Diseases ; Retrospective Studies ; Sternum ; Thyroid Gland ; Thyroidectomy ; Tracheomalacia