• Archives of Plastic Surgery
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• v.34 no.1
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• pp.131-133
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• 2007

Purpose: Steatocystoma multiplex is a hamartomatous malformation of the pilosebaceous duct junction. It is not common and inherited in an autosomal dominant pattern. But numerous non-hereditary cases have been reported. The neck is an unusual site in steatocystoma multiplex. Methods: A 23-year-old woman was found to have multiple yellowish papules, which had developed on anterior surface of her neck for 10 years. Results: There was no similar lesions on any other parts of the body. Histopathological examination revealed an intricately folded cyst wall consisting of several epithelial layers and flattened sebaceous gland lobules close to the cyst wall, which were typical of steatocystoma multiplex. Conclusion: We describe an unusual case of steatocystoma multiplex localized on the neck.

• Archives of Craniofacial Surgery
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• v.23 no.1
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• pp.6-16
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• 2022

Neurofibromatosis type 1 is the most common tumor predisposition syndrome inherited in an autosomal dominant (100% penetrance) fashion with a wide variety of expressivity. From the perspective of plastic surgery, the most significant clinical symptoms, including disfiguration, peripheral neurologic symptoms, and skeletal abnormalities, are caused by various tumors originating from the affected nerves. Surgical removal is the standard of care for these tumors. However, the outcome is frequently unsatisfactory, facilitating the search for additional therapeutic adjuvants. Current trials of molecularly targeted therapies are promising.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.168-173
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• 2014

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disorder caused by a mutation of the type III collagen (COL3A1). The manifestation of vEDS can be seen in skin, joints, blood vessels, and internal organs. The diagnosis of vEDS often is missed until the patient presents with a life-threatening complication such as spontaneous arterial rupture or bowel perforation. We report a 16-year-old male who had recurrent right thigh hematoma after simple exercise and minor trauma, respectively. He had a history of surgery due to spontaneous colon perforation at his age of 11 years. Gene test of COL3A1 revealed a novel mutation c.2931+dupT.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.98-103
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• 2013

Purpose: MAT-I/III deficiency by MAT1A gene mutation causes isolated hypermethioninemia, which is considered to be a clinically benign disease. But in some patients, mental retardation, developmental delay, myelination disorder may be shown. This study was performed to find out the clinical manifestations and genetic characteristics of patients with isolated hypermethioninemia. Methods: Clinical, biochemical and genetic analysis were done to 10 patients with isolated hypermethioninemia who were referred to department of pediatrics, Soonchunhyang University Hospital from March 1999 to March 2012. Results: At first visit, all patients' mean plasma methionine level was 5.5 mg/dL (2.1-14.6) and there were no increase of amino acid levels including homocystine in all patients. Serum homocysteine level was evaluated in seven patients who visited after year 2003, and ranged from 4.96 to $11.15{\mu}mol/L$ (normal < $25{\mu}mol/L$). Methionine restricted diet was started to all patients. Nine patients who managed regularly showed normal development, but one patient whose initial plasma methionine level was 14.6 mg/dL showed language delay at 1 year of age and was diagnosed as mild mental retardation (IQ=66) at 6 years of age. Genetic analysis was done to eight patients, R264H mutation was identified in seven patients. Also, both R299C and R356Q mutation were identified in one patient. Conclusion: Clinical findings in patients with isolated hypermethioninemia were generally good, but one patient showed mental retardation and language difficulty. R264H mutation which usually inherits as an autosomal dominant trait was most frequently found in our patients, and R299C/R356Q mutation were also identified.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.32 no.1
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• pp.81-85
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• 2010

Multiple jaw cysts are one of the most constant features of the basal cell nevus syndrome. Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressiveness. This syndrome comprises a number of abnormalities such as multiple nevoid basal cell carcinomas of the skin, skeletal abnormalities as bifid rib and fusion of vertebrae, central nervous system abnormalities as mental retardation, eye abnormalities with multiple jaw cysts. The odontogenic keratocysts in patients with this syndrome are often associated with the crowns of unerupted teeth and huge size; on radiographs they may mimic dentigerous cysts. The most important feature of the cyst is its extraordinary recurrence rate. Since recurrence may be long delayed in this lesion, follow-up of any case of odontogenic keratocyst with roentgenograms and clinical examination of basal cell carcinoma are essential for at least five years after surgery. We report the result of 7-year follow up after cyst enucleation associated with basal cell nevus syndrome with the literature of review.

• BMB Reports
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• v.43 no.4
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• pp.233-244
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• 2010

Parkinson's disease (PD) is the second most common neurodegenerative disease, and 5-10% of the PD cases are genetically inherited as familial PD (FPD). LRRK2 (leucine-rich repeat kinase 2) was first reported in 2004 as a gene corresponding to PARK8, an autosomal gene whose dominant mutations cause familial PD. LRRK2 contains both active kinase and GTPase domains as well as protein-protein interaction motifs such as LRR (leucine-rich repeat) and WD40. Most pathogenic LRRK2 mutations are located in either the GTPase or kinase domain, implying important roles for the enzymatic activities in PD pathogenic mechanisms. In comparison to other PD causative genes such as parkin and PINK1, LRRK2 exhibits two important features. One is that LRRK2's mutations (especially the G2019S mutation) were observed in sporadic as well as familial PD patients. Another is that, among the various PD-causing genes, pathological characteristics observed in patients carrying LRRK2 mutations are the most similar to patients with sporadic PD. Because of these two observations, LRRK2 has been intensively investigated for its pathogenic mechanism (s) and as a target gene for PD therapeutics. In this review, the general biochemical and molecular features of LRRK2, the recent results of LRRK2 studies and LRRK2's therapeutic potential as a PD target gene will be discussed.

• Journal of Chest Surgery
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• v.21 no.6
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• pp.1111-1116
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• 1988

Neurofibromatosis is very rare syndrome characterized by abnormal cutaneous pigmentation and numerous skin tumors was described by Smith in 1849, which is inherited as an autosomal dominant trait. Von Recklinghausen reported 2 cases of multiple skin and subcutaneous tumors in 1982. Malignant peripheral nerve tumors, although generally rare, are one of the most characteristic malignant tumors associated with Neurofibromatosis. We have experienced 3 cases of malignant Schwannoma in neurofibroma patients from 1982 to 1988 for 6 years at Thoracic and Cardiovascular surgery department, College of Medicine, Yonsei University, Seoul, Korea. l. One is 62 years old female who was taken total hysterectomy followed by irradiation treatment due to Uterine Carcinoma 21 years ago. She had a large bulging mass on left anterior chest wall and was taken enbloc resection of tumor including rib confirmed malignant Schwannoma. 2. Another is 18 years old female who had large bulging mass on right chest wall and pleural effusion in right thoracic cavity. Thoracentesis revealed a large amount of lymphocytes misdiagnosed of Tbc, pleurisy with Neurofibromatosis. We performed tissue biopsy on bulging mass and the specimen was confirmed malignant Schwannoma 2 months after first diagnosis of Tbc. pleurisy. She was not accessible to radical resection because of far advanced malignant Schwannoma at that time. 3. Third case is 28 years old male who was taken enbloc resection of tumor including rib due to Neurofibroma with Neurofibromatosis at M. hospital 6 months ago. But he had rapid growing mass at operation site again and taken tissue biopsy confirmed of malignant Schwannoma. He was not accessible to enbloc resection due to malignant Schwannoma extending to mediastinal structures.

• Annals of Clinical Neurophysiology
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• v.10 no.1
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• pp.66-69
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• 2008

Facioscapulohumeral muscular dystrophy (FSHD), the third most common inherited muscular dystrophy, is an autosomal dominant disease characterized by progressive weakness and wasting of the facial, shoulder-girdle, upper arm, foot extensor, and pelvic girdle muscles. FSHD is caused by contraction of the polymorphic D4Z4 repeat in the subtelomere of chromosome 4q. However, there has been no report of genetically confirmed FSHD in Korea. We report a patient with FSHD who was found to have a deletion of D4Z4 repeat on chromosome 4q35.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.28 no.2
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• pp.136-140
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• 2002

Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressivity. This syndrome comprises a number of abnormalities such as multiple nevoid basal cell carcinomas of the skin, skeletal abnormalities as bifid rib and fusion of vertebrae, central nervous system abnormalities as mental retardation, eye abnormalities, and multiple odontogenic kerato cysts. In 1960, Gorlin and Goltz first described the features of this disease as constituting a true syndrome; since then, it has been realized that it is much more complex and encompassing than initially thought. This patient has many symtoms of basal cell nevus syndrome. - we has known multiple jaw cysts through panorama and facial computed tomography. He has hyperchromatism on basal cell through skin biopsy. In ophthalmologic consult, he has blindness on right. On his past medical history, amputation was done on his toes for polyductalism. - So we report with literature reviews

• The Korean Journal of Physiology and Pharmacology
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• v.7 no.5
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• pp.289-293
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• 2003

Mutations in the NF2 tumor suppressor gene cause neurofibromatosis type 2, an autosomal dominant inherited syndrome predisposed to the multiple tumors of the nervous system. Merlin, the NF2 gene product was reported to block Ras-mediated cell transformation and represses Ras-induced expression of cyclin D1. However, the potential mechanism underlying the anti-Ras function of merlin on the cyclin D1 is still unclear. In this study, we investigated whether merlin decreases Ha-ras-induced accumulation of cyclin D1 at the transcriptional level, and demonstrated that merlin suppressed Ras-induced cyclin D1 promoter activity mediated by the cyclic AMP-responsive element (CRE) in SK-N-BE(2)C neuroblastoma cells. Furthermore, we found that merlin attenuated active Ras and forskolin-induced CRE-driven promoter activity. These results suggest that the transcriptional repression of the cyclin D1 expression by merlin may contribute to the inhibition of Ras-induced cell proliferation.