• Journal of Genetic Medicine
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• 제13권1호
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• pp.41-45
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• 2016

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.

• 한국임상수의학회지
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• 제18권1호
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• pp.70-73
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• 2001

Five-month-old a female mongrel puppy weighing 3.5 kg showed no systemic disorder and particular discomfort except abdominal distension at the first visit. On physical examination an irregular abdominal mass was palpated. One month later she was clumsy and uncoordinated. In addition, lethargy and anorexia were appeared. Then she became comatose and died in spite of initial therapy. In radiographic examination enlargement of both sides of kidney was observed. The hematological examination the dog had WBC of 16,250/$\mu$l, RBC of $7.2{\times}10^6$ $\mu$l, PCV of 32%, total protein of 8.0 g/dl, and fibrinogen of 900 mg/dl. In serum chemistry BUN was 87.4 mg/dl and creatinine was 5.1 mg/dl. Urinalysis revealed pH of 5.6, SG of 1.009 and protein of 500 mg/dl. In urine sediment test many RBCs, leukocytes, inflammatory cells and a few epithelial cells were observed. On histopathologic examination the size of right and left kidney were 15 cm, 16 cm in length, 6 cm, 6 cm in widths, respectively. Both sides of kidney were filled with brown-orange fluid and had irregular capsular surface. The cysts of various sizes were located throughout the cortex and medulla. No abnormality was found in any other organs. Histologically, cyst was lined by cuboidal to slightly flattened tubular epithelium and surrounded by mature fibrous connective tissue. Glomeruli, tubule and renal pelvis remained normal between cysts and exfoliated epithelial cells.

• Journal of Korean Neurosurgical Society
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• 제50권3호
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• pp.256-259
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• 2011

We report a rare case of Williams syndrome accompanying moyamoya disease in whom postoperative global cerebral infarction occurred unpredictably. Williams syndrome is an uncommon hereditary disorder associated with the connective tissue abnormalities and cardiovascular disease. To our knowledge, our case report is the second case of Williams syndrome accompanying moyamoya disease. A 9-year-old boy was presented with right hemiparesis after second operation for coarctation of aorta. He was diagnosed as having Williams syndrome at the age of 1 year. Brain MRI showed left cerebral cortical infarction, and angiography showed severe stenosis of bilateral internal carotid arteries and moyamoya vessels. To reduce the risk of furthermore cerebral infarction, we performed indirect anastomosis successfully. Postoperatively, the patient recovered well, but at postoperative third day, without any unusual predictive abnormal findings the patient's pupils were suddenly dilated. Brain CT showed the global cerebral infarction. Despite of vigorous treatment, the patient was not recovered and fell in brain death one week later. We suggest that in this kind of labile patient with Williams syndrome accompanying moyamoya disease, postoperative sedation should be done with more thorough strict patient monitoring than usual moyamoya patients. Also, we should decide the revascularization surgery more cautiously than usual moyamoya disease. The possibility of unpredictable postoperative ischemic complication should be kept in mind.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.47-51
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• 2013

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-${\beta}$ receptor type 1 or 2. It is typically characterized by a triad of hypertelorism, cleft palate or bifid uvula, and arterial tortuosity with aneurysm or dissection. Characteristic vascular abnormalities such as tortuosity, aneurysms, dissections, and stenosis are the most severe complications of LDS and can occur in the neurovascular system. We report a 5-year-old boy who presented with headaches and neurovascular abnormalities and was diagnosed with LDS with a novel mutation of the TGFBR1 gene. It is the first Korean report of neurovascular abnormalities in LDS.

• 한방안이비인후피부과학회지
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• 제15권1호
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• pp.356-383
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• 2002

This study attempted to study SLE oriental-western medically. As a result, the following conclusion was drawn 1. SLE is autoimmune disease to appear systemic pathology in the connective tissue, oriental medically correspond with numbness, yangdok(陽毒), yangdokbalban(陽毒發斑), fatigue, flank pain, phlegm, chest pain, asthma and cough, edema. 2. The cause of SLE is supposed by hereditary reason, ultraviolet exposure, medication, immune functional disorder, oriental medically is supposed by congenital in suffiency, sunlight exposure, pregnancy, menstruation, over wark, mental stimulus etc. 3. The oriental mechanisms of SLE were flursh of fever, yang defiency of spleen and kidney, defiency of yin and flourishing fire, obstruction of qi and stagnancy of blood, defiency qi and yin, defiency heart and spleen, liver stasis. 4. The treatments method of SLE were cooling blood and defending yin·clear away heat and detoxification, warming kidney and descending yang·establishing spleen and flowing water, nourishing yin and cooling blood, relaxation of liver and circulatin of qi·activating blood and removing stagnant blood,activating blood and promoting meridian. 5. the highest frequent prescription of SLE was jibakjihwanghwan(地柏地黃丸), in decending order segakjihwangtanggagam(犀角地黃湯加減), jinmutanggagam(眞武湯加減), soyosangagam(逍遙散加減), saengmakyingagam(生脈飮加減), daeboyinhwangagam(大補陰丸加減), yukmijihwanghwan(六味地黃丸), woogwihwangagam(右歸丸加減), kueibitang(歸脾湯), segakjihwangtanghaphwabantanggagam(犀角地黃湯合化斑湯加減), chengwonpaedokyingagam(淸溫敗毒飮加減), youngyanggudengyin(羚羊鉤藤飮).

• Journal of Oral Medicine and Pain
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• 제41권2호
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• pp.72-75
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• 2016

Lichen planus is a chronic disease characterized by bilateral and multiple lesions on the skin or oral mucosa. Lichen planus is caused by immune mediated degeneration along the border between epithelium and connective tissue. The incidence of oral squamous cell carcinoma in patients diagnosed with oral lichen planus (OLP) is reported to be between 0.4%-5.6% in different studies and the World Health Organization has categorized lichen planus as "a potentially malignant disorder". However, the correlation between OLP and oral cancer still remains controversial as some reported that the reason for increased incidence of squamous cell carcinoma in OLP patient is misdiagnosis of dysplastic lesion as OLP. This report aims to discuss the correlation between OLP and oral cancer through a case of middle aged woman diagnosed with OLP who was successfully treated but developed squamous cell carcinoma 8 years later.

• Tuberculosis and Respiratory Diseases
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• 제44권6호
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• pp.1426-1432
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• 1997

Sj$\ddot{o}$gren's syndrome(SS) is a chronic inflammatory disorder characterized by lymphocytic infiltration of lacrimal and sailvary glands, which results in dry eyes and dry mouth. SS may exist as a primary condition or as a secondary condition in association with connective tissue disease such as rheumatoid arthritis, systemic lupus erythematosus, or progressive systemic sclerosis. We experienced a patient with primary SS who developed multiple bullae, nodular type of pulmonary amyloidosis and lymphocytic interstitial peumonitis. We believe this to be the first reported case of SS acompanied by these three types pulmonary manifestations at the same time.

• Imaging Science in Dentistry
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• 제53권3호
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• pp.257-263
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• 2023

Fibrodysplasia ossificans progressiva is a rare hereditary disorder characterized by progressive heterotopic ossification in muscle and connective tissue, with few reported cases affecting the head and neck region. Although plain radiographic findings and computed tomography features have been well documented, limited reports exist on magnetic resonance findings. This report presents 2 cases of fibrodysplasia ossificans progressiva, one with limited mouth opening due to heterotopic ossification of the lateral pterygoid muscle and the other with restricted neck movement due to heterotopic ossification of the platysma muscle. Clinical findings of restricted mouth opening or limited neck movement, along with radiological findings of associated heterotopic ossification, should prompt consideration of fibrodysplasia ossificans progressiva in the differential diagnosis. Dentists should be particularly vigilant with patients diagnosed with fibrodysplasia ossificans progressiva to avoid exposure to diagnostic biopsy and invasive dental procedures.

• 대한두개안면성형외과학회지
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• 제24권5호
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• pp.244-249
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• 2023

Fibrous dysplasia (FD) is a rare skeletal disorder characterized by abnormal fibro-osseous connective tissue replacing normal bone. Despite its benign behavior, craniofacial FD can cause morphological disfigurement, headache, and even blindness as a result of the produced mass effect. Surgical resection is recommended when the patient shows apparent clinical symptoms or aggravating facial asymmetry. Postoperative complications have been reported, such as hematoma, surgical site infection, abscess formation, resorption of the bone graft used for reconstruction, and recurrence. An aneurysmal bone cyst (ABC) is a rare benign bony lesion that can occur secondary to preexisting bone tumor. Secondary ABCs in craniofacial FD are extremely rare in the literature, accounting for less than 30, all of which are either case reports or series. We report an extremely rare case of symptomatic secondary ABC arising from craniofacial FD that had been misdiagnosed with abscess formation or recurrence and was surgically removed. Notably, 17 years elapsed between the primary surgery and the complication of secondary ABC. The patient underwent total removal of secondary ABC. After surgery, symptoms were relieved, with no recurrence observed during a 6-month follow-up.

• 대한장애인치과학회지
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• 제8권2호
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• pp.127-133
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• 2012

EDS는 관절의 과운동성, 피부의 과신장, 조직 약화 등을 임상적 특징으로 하는 유전 질환이다. 피부, 골격, 근육, 인대, 점막, 혈관 등을 구성하는 교원질의 합성 과정과 관련된 유전자의 결함으로 결합조직이 비정상적으로 변하므로 신체 전반에 걸쳐 그 증상이 나타난다. 구강 영역에서도 교원 질과 관련된 조직에 영향을 받게 된다. 구강 점막, 치주 조직, 측두하악관절 및 치아 경조직에 문제가 발생할 수 있으므로, 총체적이고 정기적인 구강관리가 이루어져야 한다. 이번 증례와 같이 EDS에 의해 치아의 맹출 장애가 발생하고, 치은비대, 유착, 매복, 선천적 결손치, 부정교합 등이 관찰되는 경우에도 구강 위생 관리와 함께 장기적인 계획 하에 맹출 관리 및 치료가 요구된다. EDS 환아의 치과 치료시에는 질환의 원인과 전신적 특징에 대한 이해를 바탕으로, 비정상적 교원질 대사에 의해 약화된 점막과 치주조직, 지혈 관리, 반흔 형성 및 측두하악관절에 대한 종합적인 고려와 지속적인 관리가 필요하다.