• Clinical and Experimental Pediatrics
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• 제57권9호
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• pp.410-415
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• 2014

Purpose: Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1. Methods: A total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed. Results: Age of the patients at the time of NF1 diagnosis was $15.8{\pm}14.6$ years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, $Caf\acute{e}$-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: $p.Arg2517^*$, $p.Cys2371^*$; one small deletion: $p.Leu1944Phefs^*6$). Conclusion: The clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate.

• Archives of Plastic Surgery
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• 제43권4호
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• pp.344-351
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• 2016

Background Xeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by xerosis, ultraviolet light sensitivity, and cutaneous dyspigmentation. Due to defects in their DNA repair mechanism, genetic mutations and carcinogenesis inevitably occurs in almost all patients. In these patients, reconstruction of cutaneous malignancies in the head and neck area is associated with some challenges such as likelihood of recurrence and an aggressive clinical course. The aim of this study is to discuss the therapeutic options and challenges commonly seen during the course of treatment. Methods Between 2005 and 2015, 11 XP patients with head and neck cutaneous malignancies were included in this study. Demographic data and treatment options of the patients were evaluated. Results The mean age of the patients was 32 years (range, 10-43) (4 males, 7 females). The most common tumor type and location were squamous cell carcinoma (6 patients) and the orbital region (4 patients), respectively. Free tissue transfer was the most commonly performed surgical intervention (4 patients). The average number of surgical procedures was 5.5 (range, 1-25). Six patients were siblings with each other, 5 patients had local recurrences, and one patient was lost to follow-up. Conclusions Although genetic components of the disease have been elucidated, there is no definitive treatment algorithm. Early surgical intervention and close follow-up are the gold standard modalities due to the tendency toward rapid tumor growth and possible recurrence. Treatment must be individualized for each patient. In addition, the psychological aspect of the disease is an important issue for both patients and families.

• Biomolecules & Therapeutics
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• 제25권6호
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• pp.634-640
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• 2017

Atopic dermatitis (AD) is a common inflammatory skin disorder mediated by inflammatory cells, such as macrophages and mast cells. Rifampicin is mainly used for the treatment of tuberculosis. Recently, it was reported that rifampicin has anti-inflammatory and immune-suppressive activities. In this study, we investigated the effect of rifampicin on atopic dermatitis in vivo and in vitro. AD was induced by treatment with 2, 4-dinitrochlorobenzene (DNCB) in NC/Nga mice. A subset of mice was then treated with rifampicin by oral administration. The severity score and scratching behavior were alleviated in the rifampicin-treated group. Serum immunoglobulin E (IgE) and interleukin-4 (IL-4) levels were also ameliorated in mice treated with rifampicin. We next examined whether rifampicin has anti-atopic activity via suppression of mast cell activation. Rifampicin suppressed the release of ${\beta}$-hexosaminidase and histamine from human mast cell (HMC)-1 cultures stimulated with compound 48/80. Treatment with rifampicin also inhibited secretion of inflammatory mediators, such tumor necrosis factor-${\alpha}$ ($TNF-{\alpha}$) and prostaglandin $D_2$ ($PGD_2$), in mast cells activated by compound 48/80. The mRNA expression of cyclooxygenase 2 (COX-2) was reduced in the cells treated with rifampicin in a concentration-dependent manner. These results suggest that rifampicin can be used to treat atopic dermatitis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제12권2호
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• pp.240-245
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• 2009

만성 염증성 장 질환에서 유발되는 드문 피부 병변인 괴저 농피증은 초기에는 홍반으로 둘러싸인 농포로 시작하지만 빠르게 주변부로 확장되고 염증이 진피 내로 파급 되면서 깊은 궤양이 생겨 피부 함몰을 일으킨다. 초기에 감염성 연부조직염 등으로 오인하여 절개 배농이나 강한 압박 배농을 하게 되면 이 질환의 이상초과민현상 때문에 병변이 악화되는 경향이 있다. 따라서 조기 진단과 습윤-비밀폐 드레싱으로 상처에 가하는 충격을 최소화하면서 상처 부위를 보존하고 2차 세균 감염을 예방하는 것이 초기 치료에 매우 중요하다. 저자들은 궤양성 대장염을 가진 15세 여자에서 발생한 괴저 농피증을 초기 에 압박 배농하여 병변이 빠르게 악화된 증례의 치료 경험을 보고하면서 조기 진단과 초기 치료 대응의 중요성을 강조하고자 한다.

• 대한핵의학회지
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• 제25권1호
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• pp.81-86
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• 1991

Reflex sympathetic dystrophy syndrome (RSDS), known also as Sudeck's atrophy, is an uncommon disorder recognized by its distinctive symptom complex consisting of pain and tenderness, vasomotor instability, swelling, and dystrophic skin changes and radiologic changes. The present study has been carried out to prospectively establish scintigraphic diagnostic criteria for RSDS using three-phase radionuclide bone scintigraphy (TPBS). In addition, the usefulness in the evaluation of treatment of RSDS was assessed. Patients included were 6 men and 7 women with the age ranging from 25 to 63 years (average 47 years). Diagnosis was based on typical clinical symptoms and signs as described above. Associated clinical conditions in these patients were cerebral infarction (4 patients), lung cancer (2 patients), trauma (1 patient), lymphoma (1 patient), and unknown cause (5 patients). All patients showed diffuse radionuclide accumulation in juxtaarticular region on the delayed static image and 11 patients showed diffusely increased activities also on scintiangiogram and blood-pool image. Fillow-up TPBS after corticosteroid therapy in 4 patients revealed near normal return of abnormal radionuclide accumulations in the affected hand. TPBS is an useful test for the diagnosis of as well as the evaluation of the therapeutic effects of RSDS.

• 대한물리의학회지
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• 제2권2호
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• pp.205-212
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• 2007

Purpose : Herpes zoster is a common dermatologic disorder and is caused by reactivation of varicella zoster virus lying dormant in the ganglion of the dorsal root Methods : The aim of this study is to elucidate the clinical characteristics of herpes zoster and it's nature of pain, and is to review the method of physical therapy for pain control. Results : Herpes zoster is characterized by segmental rash, pain, and sensory symptoms, For most patients skin healing and pain resolution occur within 3-4 weeks, However, pain can continue after the rash has healed. Pain and paresthesia often the eruption of herpes zoster and vary from itching to stabbing. The preeruptive pain may simulate other diseases and may lead to misdiagnosis and misdirected interventions. Motor symptomatology is less well known and is most often related to central nervous system disease, although true lower motor neuron application is also thought to exist Subclinical motor involvement is relatively more common than clinical motor weakness and is easily detected by using electromyography. Higher incidences of herpes zoster were observed in female and in the elderly. Conclusion : The nature of pain associated with herpes zoster varied from a superficial itching to server stabbing or bursting, and paresthesia occurred most frequently. Therefore, the study of herpes zoster will be more research and comprehend, and the approach of physical therapy should be need positively.

• Childhood Kidney Diseases
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• 제16권2호
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• pp.126-131
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• 2012

쇠그렌 증후군은 주로 침샘과 눈물샘을 침범하는 자가 면역 질환으로, 폐나 간, 콩팥, 췌장, 피부, 신경계 등의 다른 장기 역시 침범하여 임상 증상을 나타내기도 한다. 성인의 경우 이런 다른 장기와 관련된 증상은 드물지 않으나 소아에서는 매우 드물다고 알려져 있다. 특히 콩팥을 침범한 쇠그렌 증후군은 성인의 경우 비교적 흔하지만 소아는 매우 드문데, 이에 본 저자들은 신성 요붕증과 신세뇨관 산증을 주 증상으로 진단한 소아의 일차성 쇠그렌 증후군 1례를 경험하였기에 보고한다.

• Archives of Plastic Surgery
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• 제41권5호
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• pp.588-593
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• 2014

Lymphedema is a chronic disorder characterized by lymph stasis in the subcutaneous tissue. Lymphatic fluid contains several components including hyaluronic acid and has many important properties. Over the past few years, significant research has been performed to identify an ideal tissue to implant as a filler. Because of its unique composition, fat harvested from the lymphedema tissue is an interesting topic for investigation and has significant potential for application as a filler, particularly in facial rejuvenation. Over a 36-month period, we treated and assessed 8 patients with lymphedematous limbs who concurrently underwent facial rejuvenation with lymphedema fat (LF). We conducted a pre- and postoperative satisfaction questionnaire survey and a histological assessment of the harvested LF fat. The overall mean general appearance score at an average of 6 months after the procedure was $7.2{\pm}0.5$, demonstrating great improvement. Patients reported significant improvement in their skin texture with a reading of $8.5{\pm}0.7$ and an improvement in their self-esteem. This study demonstrates that LF as an ideal autologous injectable filler is clinically applicable and easily available in patients with lymphedema. We recommend the further study and clinical use of this tissue as it exhibits important properties and qualities for future applications and research.

• 대한유전성대사질환학회지
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• 제14권2호
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• pp.168-173
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• 2014

혈관형 엘러스-단로스 증후군은 상염색체 우성 유전질환으로 COL3A1 유전자의 돌연변이로 인해 제 3형 콜라겐 합성이 결핍되면서 피부, 관절, 혈관, 폐, 내장 등에서 증상이 나타나는데 생명에 위협이 되는 합병증인 동맥 파열이나 장 천공과 같이 발생한 뒤에 진단이 늦게 내려지는 경우가 많다. 본 증례는 11세에 장천공 및 복막염의 수술력이 있는 16세 남아가 각각 운동과 경미한 손상 이후 발생한 두 차례의 근혈종으로 내원하여 시행한 COL3A1 유전자 검사에서 새로운 돌연변이 c.2931+2dupT가 발견되어 보고하는 바이다.

• 가정∙방문간호학회지
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• 제5권
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• pp.32-46
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• 1998

Cancer is a leading cause of death, and the number of cancer patients is increasing in Korea. The needs for the home care of cancer patients are increasing recently, but the standardized home care protocols are not developed yet. This study was designed to develop nursing assessment -intervention algorithms for the cancer chemotherapy patients at home. These algorithms suggest guidelines when we assess the patient's condition, and find appropriate nursing interventions, so that standardization and quality control of home care can be attained. The algorithms were processed by yes-no tree. Eleven common problems of cancer chemotherapy patients were identified by the literature review and oncology nurses' experience. These were digestive dysfunction, pain, fatigue, infection, respiratory difficulties, activity intolerance, hemorrhage, sensory disorder, edema, skin problem, and mucosal problem. The algorithm needs to be validated and modified by using for the cancer chemotherapy patients at home.