• Journal of Genetic Medicine
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• 제7권2호
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• pp.151-155
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• 2010

Apert 증후군은 두부와 손발의 골 및 연부조직의 성장장애로 인해 발생하는 선천적 질환으로 두개골의 기형과 사지의 대칭적 합지증을 특징으로 하는 드문 질환이다. Apert증후군은 변이된 FGFR2 유전자에 의해 발생한다고 알려져 있으며 세계적으로 S252W 돌연변이가 가장 흔하고, P253R돌연변이는 드물게 보고되고 있다. 국내에서는 엑손IIIa에서 S252W 돌연변이가 보고된 경우가 있다. 본 증례에서는 두 개 봉합선의 조기 융합으로 인한 두부의 특징적인 기형, 손과 발의 심한 합지증을 동반하는 전형적인 Apert 증후군 영아에서 FGFR2 유전자의 8번째 엑손부위에서의 P253R 돌연변이가 확인되었기에 보고하는 바이다. 향후 유전자-표현자형의 대한 연구, 발생 기전 및 치료와 관련한 분자 생물학적 연구가 더 필요할 것으로 사료된다.

• Journal of Genetic Medicine
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• 제17권1호
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• pp.43-46
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• 2020

The Shprintzen-Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI. SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challenging in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of first evaluation. His height was above 2 standard deviation score. Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identified by sequential whole exome sequencing. To our knowledge, this is the first case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.

• 대한두개안면성형외과학회지
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• 제12권1호
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• pp.53-57
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• 2011

Purpose: Pyoderma gangrenosum is a rare inflammatory, reactive dermatosis marked by painful cutaneous ulcer. The causes of pyoderma gangrenosum remain unclear. Gastrointestinal, hematological, rheumatological, and immmune disorders may be associated with pyoderma gangrenosum. The appearance of this disease may range from mild skin ulcers to life-threatening conditions. Generalized multiple ulcerative pyoderma gangrenosum is very rare. Here we report our experience with a case of multiple ulcerative pyoderma gangrenosum accompanied by ulcerative colitis. Methods: A 67-year-old man had cutaneous ulcers at multiple sites including the scalp, face, chest, abdomen, hands, and buttocks. He also developed gastrointestinal symptoms such as intermittent dyspepsia and bloody excrement. Debridement and irritation aggravated the disease progress. We gave a diagnosis of pyoderma gangrenosum with ulcerative colitis based on the clinical appearance and biopsy. The patient was treated with systemic intravenous steroid therapies and careful wound cares. Ulcers of the scalp and buttocks were treated with split thickness skin grafts. Results: Most of the multiple cutaneous ulcers were treated by systemic intravenous steroid therapies and wound cares. The rest of the ulcers were treated with skin grafts. Systemic intravenous steroid therapy was used to treat the ulcerative colitis. Conclusion: Generalized multiple ulcerative pyoderma gangrenosum is very rare. Without making an accurate diagnosis, hasty surgical treatments could aggravate the progression of the disease. Additionally, care should be taken to systemically treat underlying disease as well as administrating local treatments for the skin lesions. Intravenous systemic steroid therapy and skin grafts are useful treatments for generalized pyoderma gangrenosum.

• 대한두개안면성형외과학회지
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• 제12권1호
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• pp.58-62
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• 2011

Purpose: The focal ossification of auricular cartilage is an unusual clinical entity in which the ear becomes partially or totally rigid and immalleable. This condition may result from cold injury, local trauma, inflammation, or various systemic diseases. Patients may feel mild discomfort, but there are usually no other serious symptoms. We present a case of focal ossification of auricular cartilage in which the cause is unknown. Methods: A healthy 58-year-old man presented with a 2-year history of hard mass of right posterior auricular area. He denied any precipitating historical events like cold injury and inflammation. Routine testing did not demonstrate systemic abnormalities. Ultrasonographic examination revealed a $22{\times}10{\times}11mm$ sized heterogenous isoechoic mass showing an acoustic shadow. Results: Excisional biopsy was performed under local anesthesia. Histological examination revealed the ossification with deposition of trabecular bone in normal elastic cartilage. The patient was healed without any problems and satisfied with the result. Conclusion: We report clinical experience of focal ossification of auricular cartilage, which is quite a rare clinical entity. It should be considered that there is the possibility of ossification of cartilage when it meets the benign mass of the ear.

• 대한두개안면성형외과학회지
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• 제12권1호
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• pp.71-74
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• 2011

Purpose: Sarcoidosis is a systemic noncaseating granulomatous disease of an unknown origin, and can involve any organ including the skin. The infiltration of sarcoid granuloma in an old cutaneous scar is an uncommon cutaneous manifestation of sarcoidosis. This paper reports a 35-year old female who presented with cutanesous nodules in previous facial scars. Methods: A 35-year-old female presented with cutaneous nodules for 2 months in previous scars of the forehead and lower lip that she had acquired in the childhood. An excisional biopsy of the lower lip mass, serologic examinations and radiologic studies were performed. Results: The excisional biopsy revealed noncaseating granulomas consistent with sarcoidosis. Chest CT revealed both hilar and paratracheal lymphadenopathy with nodular densities in both lung fields. Routine laboratory tests, serologic tests, serum angiotensin converting enzyme level, sputum for acid-fast bacilli, ophthalmoscopic examination, TB-PCR and NTM-PCR showed normal findings. Therefore, the patient was diagnosed with sarcoidosis. The patient refused fiberoptic bronchoscopy and medication with oral steroid. Currently, the clinical manifestation and progress are being monitored closely, and treatment is expected to start with oral steroid according to the progress. Conclusion: For the proper management of cutaneous sarcoidosis, particularly scar sarcoidosis, plastic surgeons should be aware of the many clinical and histopathological features of sarcoidosis and recommend a systemic evaluation for early diagnosis and proper treatment.

• 대한두개안면성형외과학회지
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• 제12권1호
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• pp.43-47
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• 2011

Purpose: Romberg's disease manifests as progressive hemifacial atrophy of the skin, soft tissue and bone, which usually begins in the first or second decade of life. When present, atrophy may originate from the cutaneous stigmata and may become so sharply delimited by the midline. Methods: A 10-year-old girl, who had suffered from right mandibular area atrophy for 3 years, visited us and was diagnosed with Romberg's disease. The depressed lesion of the face was augmented successfully using a deepithelialized groin free flap. The superficial circumflex iliac vessels were used as the donor pedicle and the facial artery and vein were used as the recipient vessels. Results: After surgery, the flap survived well and she was satisfied with the result. Although there are various methods of facial augmentation using free flaps, this flap has some advantages. First, there is a considerable amount of fat tissue components for augmentation. Second, flap elevation with thinning is possible. Third, the donor site can be hidden. Conclusion: The groin dermo-fat free flap is a good method for the facial augmentation of Romberg's disease.

• 대한두개안면성형외과학회지
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• 제12권1호
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• pp.12-16
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• 2011

Purpose: This study examined the biomechanical stability of four different plating techniques in the experimental model of mandibular subcondyle fracture. Methods: Twenty standardized bovine tibia bone samples ($7{\times}1.5{\times}1.0cm$) were used for this study. Each of the four sets of tibia bone was cut to mimic a perpendicular subcondyle fracture in the center area. The osteotomized tibia bone was fixed using one of four different fixation groups (A,B,C,D). The fixation systems included single 2.0 mm 4 hole mini adaption plate (A), single 2.0 mm 4 hole dynamic compression miniplate (B), double fixation with 2.0 mm 4 hole mini adaption plate (C), double fixation with a 2.0 mm 4 hole mini adaption plate and 2.0 mm 4 hole dynamic compression miniplate (D). A bending force was applied to the experimental model using a pressure machine (858 table top system, $MTS^{(R)}$) until failure occurred. The load for permanent deformation, maximum load of failure were measured in the load displacement curve with the chart recorder. Results: Double fixation with a 2.0 mm 4 hole mini adaption plate and a 2.0 mm 4 hole dynamic compression miniplate (D) applied to the anterior and posterior regions of the subcondyle experimental model showed the highest load to failure. Conclusion: From this study, double fixation with an adaption plate and dynamic compression miniplate fixation technique produced the greatest biomechanical stability. This technique may be considered a useful means of fixation to reduce the postoperative internal maxillary fixation period and achieve early mobility of the jaw.

• 대한두개안면성형외과학회지
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• 제12권1호
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• pp.6-11
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• 2011

Purpose: The cephalic index (CI) is used to classify the head and every race has its unique characteristics. Previous studies published in Korea were limited to demonstrating the periodical change of the CI. This study was done to determine the CI change in 0 to 20 year-old Koreans by sex and age. Methods: The measurement was done on 1,222 Koreans ranging from 0 to 20 years of age, randomly selected from 2,156 who were diagnosed with simple concussion, had no other diseases or anomalies, and took cephalographs from January, 2000 to July, 2008. The files were obtained from $Marosis^{(R)}$ and then photogrammetry was done by $Photoshop^{(R)}$. To standardize the cephalograph, the Frankfort horizontal line was selected as the reference line on lateral view and the line connecting both lateral-orbitales on AP view. The maximal length was obtained from the lateral cephalograph and the maximal breadth from the AP cephalograph. Results: The CI showed no difference by sex (p=0.4848). The CI and age showed negative correlation (p<0.0001). Analyzed separately by the male and the female, the CI showed statistical significance in the male (p<0.0001), but not in the female (p=0.4741) group. Comparing the CI above the age of 11, the CI of the female became greater than that of the male. Conclusion: This study contributes to the standardization of CI measurement and the authors were able to obtain the average CI by age. We concluded that the CI decreased according to age and most Koreans belonged to barchycephalic or hyperbrachycephalic.

• 대한두개안면성형외과학회지
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• 제12권1호
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• pp.28-32
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• 2011

Purpose: A cranioremodeling helmet for correcting plagiocephaly was recently developed. However, no discrete objective methods to evaluate how the deformity is being corrected have been developed. We have established an easy and cost-effective method that can be used not only to show the correction process, but can also be used by physicians to assess the degree of plagiocephaly two-dimensionally. Methods: For two-dimensional evaluation, a length of malleable memory wire (2 mm in diameter) resembling "Sun-Wukong's headband" was placed on the patient's head. The wire around the patient's head was positioned on a plane including points 1 cm above the eyebrow and 1 cm above the auricle. The wire was placed on a sheet of paper and the outline was marked using pens of various colors during each visit. The degree of plagiocephaly correction could then be shown to the patient's parents at every consultation. Results: The method established by the present study easily shows the horizontal cross-section transformation of the head, illustrates plagiocephaly correction by the helmet, and shows the degree of correction in a two-dimensional manner. Conclusion: A soft-shell helmet is widely used for correcting plagiocephaly. However, evaluating the effectiveness of the helmet has been determined in a subjective manner, and a more objective method is now in demanded. Our study found that a "Sun-Wukong's headband" wire can accurately measure two-dimensional changes. Future studies will be required to identify landmarks needed for assessing plagiocephaly correction.

• 대한두개안면성형외과학회지
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• 제12권1호
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• pp.48-52
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• 2011

Purpose: Many advances have been made in lower eyelid reconstruction surgical procedures after tumor ablative therapy. These include skin grafts, local flaps, free flaps, and skin expansion. When a full-thickness defect of the lower eyelid is reconstructed with many free flaps, ectropion and deformity of the medial and lateral canthal areas are common late complications caused by gravitational descent. The radial forearm free flap is widely used because of its lack of bulk, ease of dissection, malleability, and hairlessness. This report introduces a novel method for preventing ectropion using a composite radial forearm free flap reconstruction and palmaris longus suspension technique. Methods: A 70-year-old man had a malignant melanoma on his left lower eyelid. The patient was referred to our department after a biopsy confirmed the initial diagnosis. A full-thickness wide resection with a 25 mm free margin was performed, and a $5{\times}8cm$ radial forearm flap was elevated with a vascularised palmaris longus tendon. The palmaris longus tendon was fixed to the medial and lateral orbital rim perisoteum and the deep temporal fascia. The buccal mucosa was grafted to reconstruct the inner conjunctival layer. The pedicle vessels were anastomosed to the left superficial temporal artery and vein. Results: The postoperative clinical course was uneventful. The flap showed good texture and color match. No ectropion was noted 14 months after surgery and the tumor did not recur. The patient was quite satisfied with the final outcomes. Conclusion: Use of a radial forearm free flap and the palmaris longus tendon is an effective method for a full-thickness lower eyelid reconstruction.