• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.3
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• pp.556-561
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• 2008

Neurofibromatosis is an autosomal dominant disorder caused by a mutation of a tumor supressor gene on the long arm of chromosome 17. There are two types of neurofibromatosis, and development of neurofibroma is one of clinical diagnostic criteria for neurofibromatosis. The clinical signs of neurofibromatosis include as skin lesions, bone deformities, and tumors involving central nervous system. About 25% of neurofibromatosis involves oral neurofibroma. Radiographically, oral neurofibroma is well-defined unilocular radiolucency, which involves mandibular canal, mandibular foramen and mental foramen. When a lesion is small and approachable, complete resection, including 1cm of marginal connective tissue, is feasible. However, there are studies reporting that the recurrence rate after surgical resection is high and frequent recurrence may even increase the risk of malignant transformation. This case reports a patient with neurofibromatosis type I, accompanying oral neurofibroma, who shows a favorable result after surgical resection of the oral lesion.

• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.538-541
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• 2008

Menkes disease is an X-linked recessive copper transport disorder characterized by neurological deterioration, connective-tissue damage, and abnormal hair growth. It is caused by the mutation of the ATP7A gene. This report describes a four-month-old boy with neurological symptoms typical of Menkes disease plus unusual liver involvement. He developed seizures at three months of age and exhibited hypotonia, cephalhematoma, a sagging face, redundant and hypopigmented skin, and abnormal hair growth. In addition, he had unexplained hepatomegaly and high hepatic transaminase. We confirmed the diagnosis of Menkes disease by mutation analysis of the ATP7A gene. To exclude other possible causes for the hepatic abnormalities, a liver biopsy was performed, revealing intracytoplasmic cholestasis, focal spotty necrosis, and minimal lobular activity. The patient's liver involvement may be an underestimated complication of Menkes disease.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.91-94
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• 2009

Werner syndrome (WRN), or adult progeria, is a very rare, autosomal recessive disorder characterized by the appearance of accelerated aging, including cataracts, gray hair, skin atrophy, and atherosclerosis. This syndrome is caused by mutations in the WRN gene and had a high risk of a spectrum of rare neoplasms including: i) non-epithelial malignant or pre-malignant tumors/conditions, osteosarcomas and soft tissue sarcomas, malignant melanomas, myeloid leukemia and myelodysplastic syndrome; ii) an epithelial neoplasm, thyroid carcinoma, and iii) meningiomas. Recently, authors experienced a case of Werner syndrome complicated by bone metastasis of rhabdomyosarcoma in a 20-year old Korean man. The patient revealed a painful mass on his right knee and progeroid features, short stature, scalp alopecia, abnormal dentition, craniofacial disproportion, hypothyroidsm, cataracts and osteoporosis. The onset of symptoms of Werner syndrome generally precedes any later symptoms of associated conditions, such as malignant tumor. Therefore, early recognition of Werner syndrome is important to assist identification of malignant tumors at an early stage in this patient group.

• The Journal of Korean Obstetrics and Gynecology
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• v.28 no.2
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• pp.133-142
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• 2015

Objectives : Acne vulgaris is a common skin disorder prevalent among adolescence into adulthood, and its consequences can be detrimental especially for women. The purpose of this study was to investigate the effect of Yukul-tang Gamibang (YG) on female acne vulgaris. Methods : We treated 2 cases of female acne patients diagnosed as ‘Stagnation Pattern’ with herbal medication and external treatments. Herbal medication was orally administered 2 times a day and external treatments were applied once a week on average during the whole treatment period. Results : Photographs were taken at the start of each session, and the pictures of before and after the treatment period were compared. The severity of acne vulgaris was evaluated according to the Korean Acne Grading System (KAGS). We observed clinical improvement and decrease in KAGS grades after treatment. Conclusions : After taking YG, acne vulgaris was significantly improved in both patients. The results suggest that YG may be effective in treating acne vulgaris in female patients diagnosed as ‘Stagnation Pattern’.

• Tuberculosis and Respiratory Diseases
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• v.66 no.3
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• pp.225-229
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• 2009

Churg-Strauss syndrome (CSS) is a disorder that is characterized by asthma, hypereosinophilia and systemic vasculitis affecting a number of organs. The manifestations of acute cholecystitis and diffuse alveolar hemorrhage are rarely reported in CSS. A 22-year-old woman with bronchial asthma visited our hospital complaining of right upper quadrant pain with a sudden onset. The abdominal computed tomography (CT) scan revealed gall bladder edema consistent with acute cholecystitis. On the initial evaluation, marked hypereosinophilia was observed in the peripheral blood smear. The nerve conduction velocity measurements and a skin biopsy performed to confirm the organ involvement of disease indicated typical mononeuritis multiplex and necrotizing vasculitis, respectively, which was complicated with CSS. On the 12th hospital day, ground glass opacity and consolidations were newly developed on both lung fields. The bronchoalveolar lavage (BAL) fluid showed increasing bloody return in sequential aliquots that were characteristic of a diffuse alveolar hemorrhage. We report a case of CSS with acute cholecystitis and diffuse alveolar hemorrhage.

• Journal of The Korean Dental Society of Anesthesiology
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• v.14 no.4
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• pp.243-250
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• 2014

Generalized anaphylaxis is a most dramatic and acutely life-threatening allergic reaction and may cause death within a few minutes. Differential diagnosis of anaphylaxis is made by clinical signs, such as, mental change, respiratory distress, hypotension, hypoglycemia, urticaria and angioedema. Especially, insulin reaction, myocardial infarction and vasovagal syncope are considered as differential diagnosis. In cases of fatal anaphylaxis, respiratory and cardiovascular disturbances predominate and are evident early in the reaction. This is a case report of the intensive care of anaphylactic shock after intravenous injection of the penicillin in a old medically compromised patient with the maxillary osteonecrosis. The anaphylactic shock symptoms, such as, unconsciousness, respiratory disorder, no pulsation on carotid artery and cardiopulmonary arrest are occurred in intravenous injection of augmentin 1.2 g after the skin test. In spite of immediate emergency cares, such as intravenous injection of epinephrine, endotracheal intubation, cardiopulmonary resuscitation, and continuous intensive care, the patient is expired in 58 hours after anaphylactic shock attack.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.4
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• pp.563-567
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• 2009

Incontinentia pigmenti(Bloch-Sulzberger syndrome) is a sex-linked hereditary disorder so girls are almost exclusively affected. The frequency rate is approximately 1:40,000 among girls. It is associated with skin, ocular, dental, skeletal and central nervous deformities. We reported 2 cases of medically diagnosed IP patients who were 4 and 5 years old girls. They had thin and sparse hair, and represented congenital missing of multiple primary and permanent teeth, accessory cusps and cone-shaped crowns. Therefore we report the dental manifestations and treatment progress.

• Journal of Yeungnam Medical Science
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• v.27 no.1
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• pp.78-84
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• 2010

Adult-onset Still's disease (AOSD) is an inflammatory disorder that's characterized by daily, spiking high fever, arthritis and an evanescent, salmon-pink rash. AOSD is diagnosed purely on the basis of the typical clinical features of the illness. The symptoms commonly include swelling of the lymph nodes, enlargement of the spleen and liver, and a sore throat. AOSD is difficult to differentiate from systemic lupus erythematosus (SLE) due to the similar clinical manifestations. We report here on a case of a 16-year-old female patient with autism and epilepsy and who complained of daily spiking fever for 20 days. The patient had maculopapular skin rashes on the face and whole body and lymphadenopathy. The liver function tests were elevated mildly. The initial rheumatoid factor (RF) and antinuclear antibody (ANA) tests were negative. We diagnosed her as having adult-onset Still's disease according to the criteria of Yamaguchi. We successfully treated her with oral prednisolone. But her antinuclear antibody test was changed to positive after discharge. So we finally diagnosed her as having SLE.

• Journal of Yeungnam Medical Science
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• v.32 no.2
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• pp.122-126
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• 2015

Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome is a monoclonal plasma cell disorder. Patients with POEMS syndrome also have various clinical manifestations including generalized edema, pleural effusion, ascites, papilledema, and sclerotic bone lesions. These manifestations can lead to a misdiagnosis or delayed diagnosis. We recently experienced a 51-year-old male patient with POEMS syndrome whose sclerotic bone lesion was misdiagnosed as malignant bone metastasis of papillary thyroid carcinoma. We reassessed the patient and found polyneuropathy, hepatosplenomegaly, hypothyroidism, partial hypopituitarism, immunoglobulin G lambda-type monoclonal gammopathy, hypertrichosis, ascites, and multiple sclerotic bone lesions, all of which led us to a diagnosis of POEMS syndrome. Treatment with thalidomide and dexamethasone resulted in clinical and radiological improvement. The patient has remained in remission after peripheral blood stem cell transplantation.

• Clinical and Experimental Pediatrics
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• v.58 no.9
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• pp.354-357
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• 2015

Parry-Romberg syndrome (PRS) is a rare, acquired disorder characterized by progressive unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures that may be preceded by cutaneous induration. It is sometimes accompanied by ipsilateral brain lesions and neurological symptoms. Here we present the case of a 10-year-old girl with right-sided PRS and recurrent monoplegic ataxia of the left leg. At 4 years of age, she presented with localized scleroderma over the right parietal region of her scalp; her face gradually became asymmetric as her right cheek atrophied. Brain magnetic resonance imaging revealed hemiatrophy of the face and skull base, and T2-weighted images showed increased signal in the right hemipons and hemicerebellar peduncle. Magnetic resonance angiography findings were unremarkable. She was treated with oral prednisolone, and her recurrent gait ataxia diminished within 2 months of the follow-up period. To the best of our knowledge, this is only the second case of PRS presenting with an abnormal involvement of the ipsilateral hemipons.