• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.21 no.2
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• pp.154-164
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• 2008

Epidermolysis Bullosa(EB) is rare, chronic mechanobullous disease, which easily produce bulla by minor trauma or spontaneously. There are three major forms of Epidermolysis bullosa - Epidermolysis bullosa simplex, Junctional epidermolysis bullosa, Dystrophic epidermolysis bullosa. This report is on the 21-year-old female patient who has Dystrophic epidermolysis bullosa(Recessive Dystrophic epidermolysis bullosa-mitis). The Korean medical treatments such as acupuncture and herbal medication were used, with light therapy : Carbon Are, which is known for effect of dermal resuscitation. As a result, Carbon Arc and Korean medical treatment's effect of dermal resuscitation is proved in this study. But more cases are necessary for establishing more effective treatment methods.

• Advances in pediatric surgery
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• v.3 no.1
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• pp.77-82
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• 1997

The association of pyloric atresia and epidermolysis bullosa(EB) in newborn is rare and inheritant as an autosomal recessive trait. We report a newborn girl with pyloric atresia and epidermolysis bullosa. Blisters were noted on her skin at birth, especially in pressure-exposed area, and later on the oral mucosa. Junctional epidermolysis bullosa was confirmed by light microscopy and electron microscopy. Radiography revealed pyloric atresia. Segmental resection of 1.5 cm and gastroduodenostomy were carried out at 4 days of age. Protein loosing enteropathy developed after oral feeding. The frequency of episodes of nonscarred blisters and the severity and duration improved significantly with time. The protein loosing enteropathy was persistent, and at 1 year of age, her growth is markedly retarded.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.20 no.1 s.32
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• pp.265-284
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• 2007

Introduction : There are three major forms of Epidermolysis Bullosa(EB) - EB Simplex(EBS), Junctional EB(JEB) and Dystrophic EB(DEB). DEB is divided into two groups that Dominant DEB(DDEB) and Recessive DEB(RDEB). RDEB has two types that Hallopeau-Siemens(generalized type) and mitis(localized type). Objects : This study was carried out to observe the progress of Recessive Dystrophic Epidermolysis Bullosa-mitis(RDEB-mitis) disease and find effective remedy. Methods: Both diagnosis and treatment were divided into three groups voluntarily. l. diagnosis - dermatic symptoms, mucosal symptoms, general symptoms 2. treatment - herbal medications, moxibustion, medicines used extemally(外用藥) Results : After treating 9 months, the condition of the patient grew better and the grades of severity of ROEB-mitis disease were lower at each diagnosis item. Conclusions : As above results, oriental medical treatments were very effective for this disease. But more case studies are necessary for establishing more effective diagnosis and treatment methods.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.8 no.2
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• pp.109-112
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• 2012

Epidermolysis bullosa (EB) is an inherited skin disease characterized by blister formation of the skin following just minor trauma or spontaneously. The main classification of EB is based on the localization of the blistering. In epidermolysis bullosa simplex, the blister formation is intraepidermal; in epidermolysis bullosa junctionalis the blister formation in the epidermal-dermal junction; in the dystrophic forms of EB blister formation is intradermal. Oral manifestations of recessive dystrophic EB are characterized by rampant caries, crowding, microstomia, ankyloglossia, vestibular obliteration. Dental therapy may be well provided to patient with recessive dystrophic EB by using general anesthesia especially in case of poor cooperation. A two years old girl with recessive dystrophic EB visited our clinic for rampant caries. She was hospitalized for severe anemia and fever, and we provided dental therapy under general anesthesia. Extraction of incisors and stainless steel crown restoration of primary molars were performed.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.8 no.2
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• pp.122-126
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• 2012

Epidermolysis bullosa (EB) is a genetic disorder, characterized by blisters on skin and mucosal surfaces even upon light mechanical damage. EB is caused by genetic mutations in at least seven proteins on the basement membrane zone, which is the boundary between the epidermis and the dermis. There are many types of EB differing in clinical and genetic aspects, and the prognosis varies depending on the EB type. There are largely three types of EB, categorized by the electron-microscopic location of the blisters. The blisters form within the epidermis in epidermolysis bullosa simplex, in the lamina lucida in junctional epidermolysis bullosa, and just beneath the basal lamina in dystrophic epidermolysis bullosa. To date, there is no medication or treatment that cures EB or completely prevents the blisters, so generally symptomatic treatment is performed. EB patients must always be cautious, for blisters can form at the slightest injuries, and the patients must be dealt with gently. Injuries and infections have to be prevented and treated, and deficient nutrients must be supplied during dental treatment period. Some patients may experience pain when swallowing food or dental treatment due to blisters and resulting scars in the mouth, pharynx, and esophagus. Recently, two pediatric patients were diagnosed with EB at Pusan National University Hospital and visited the Department of Pediatric Dentistry for oral care and dental treatment. The treatment results are reported here.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.34 no.2
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• pp.117-126
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• 2012

Epidermolysis bullosa (EB) represents a spectrum of conditions that are characterized by blistering and mechanical fragility of the skin. There is genetic heterogeneity and marked variation in clinical phenotypes in the multiple EB disorders. The most recent classification recognizes four major EB grouping and over 30 EB subtypes. The severity of EB ranges from mild to severe skin involvement, and it can be localized or generalized. Oral features include repeated occurrence of blisters, erosions, and scars, which lead to limited mouth opening, ankyloglossia, elimination of buccal vestibule, and increased risk of oral carcinoma. Routine dental care or even normal tooth brushing might cause bullae on the oral mucosa. Occasionally, the clinician will be called upon to treat patients with EB and should therefore be aware of specific treatment modifications. we present a reviews of the literature with a case providing adequate anesthetic and surgical care.

• Archives of Reconstructive Microsurgery
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• v.19 no.2
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• pp.97-100
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• 2010

Purpose: Epidermolysis bullosa is a rare genetic disease, characterized by the presence of extremely fragile skin and formation of recurrent blister resulting from even a minor mechanical injury. Squamous cell carcinoma (SCC) is recognized as a complication of the chronic scarring associated with dystrophic epidermolysis bullosa (DEB). When a soft tissue defect happens in a patient with epidermolysis bullosa, it is difficult to cover it with a skin graft or a flap. We describe the successful use of a pedicled deep inferior epigastric perforator flap for the reconstruction of SCC associated with DEB in the groin. Methods: A 29-year-old man diagnosed with DEB at birth sustained an ulcer increasing in the right groin for the last 7 months. Under general anesthesia, the mass lesion and lymph nodes were removed and the resulting defect was covered with a pedicled deep inferior epigastric perforator flap. Results: The flap survived completely and his postoperative course was uneventful. Histopathological examination revealed a SCC in the right groin and malignant tumor cells in the removed lymph nodes as well. Additional positron emission tomogram showed a malignant lesion in the ileocecal area with regional lymph node metastasis. The patient was referred to an oncologist for chemotheraphy, but the patient refused to take it. During a 4-month follow-up period, there was no recurrence in the right groin. Conclusion: We suggest that perforator flaps can be considered as a reliable alternative for the reconstruction of soft tissue defects in a patient with DEB.

• Proceedings of the Korean Society of Veterinary Clinics Conference
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• 2008.10a
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• pp.158-158
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• 2008

• Clinical and Experimental Reproductive Medicine
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• v.32 no.4
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• pp.293-300
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• 2005

연구목적: 단일 유전자 이상에 대한 착상전 유전진단을 성공적으로 시행하기 위해서는 효과적이고 신뢰도가 높은 PCR 방법의 확립이 중요하다. 본 연구에서는 alkaline lysis와 duplex nested PCR 방법을 단일 림프구와 할구의 유전자 분석에 적용하여 그 효용성을 확인하고자 하였다. 재료 및 방법: 단일 유전자의 이상이 확인된 Duchenne muscular dystrophy (DMD), ornithine transcarbamylase (OTC) 결핍증과 epidermolysis bullosa (EB) 가계의 대상자들에서 채취한 단일 림프구와 공여 받은 배아의 할구를 이용하여 각각 PCR, restriction fragment length polymorphism (RFLP)와 direct DNA sequencing 분석을 시행하였다. 이러한 분석에서 유전자 증폭률 (amplification rate)과 두개의 allele 중에서 하나의 allele이 증폭되지 않는 allele drop-out (ADO) 빈도에 대해 살펴보았다. 결 과: 단일 림프구와 할구를 이용한 PCR 방법의 유전자 증폭률은 DMD에서 91.1%와 81.8%, OTC 결핍증에서 96.0%와 78.1%, EB에서 91.3%와 90.0%를 각각 나타냈으며, ADO 빈도는 OTC 결핍증에서 13.3%, EB에서 16.8%로 관찰되었다. 결 론: 본 연구에서 적용한 alkaline lysis와 duplex nested PCR 방법은 단일 유전자에 대한 착상전 유전진단에 성공적으로 적용할 수 있는 방법으로 생각되며, ADO 빈도를 최소화할 수 있는 효율적인 방법의 개발에 대한 지속적인 연구가 필요하다.

• Clinical and Experimental Pediatrics
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• v.63 no.11
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• pp.447-450
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• 2020

Background: Esophageal stricture (ES) is an uncommon clinic entity in pediatrics that may be congenital or acquired in childhood. Acquired noncaustic ES is very rare, and clinical features of affected patients are unknown. Purpose: We aimed to evaluate the clinical findings, and outcomes of patients with acquired noncaustic ES to aid physicians in the early referral of patients to gastroenterologists. Methods: The medical data of patients with acquired noncaustic ES who were followed in our gastroenterology clinic between January 2009 and December 2019 were reviewed. Results: Acquired noncaustic ES was found in 12 of the 4,950 patients (0.24%) who underwent endoscopy during the study period. The main symptoms were dysphagia (58.3%), vomiting (33.3%), and chronic anemia (8.3%). Chronic malnutrition and underweight were found in 66.6% of the patients. The most common etiological factors were radiotherapy, peptic reflux, and achalasia (16.6%, each), while chemotherapy, squamous-cell carcinoma (SC) of the esophagus, eosinophilic esophagitis (EoE), esophageal web, epidermolysis bullosa, and esophageal diverticulum (8.2%, each) were the other etiological factors. Patients with EoE underwent endoscopic bougie dilation in addition to steroid use and elimination diet. Patients with epidermolysis bullosa and esophageal web underwent bougie dilation. Patients with peptic reflux-related ES were initially put on antireflux therapy, but during follow-up, one patient required esophageal replacement with colonic interposition. Patients with radiotherapy-related ES recovered with medical therapy. The patient with initially underwent surgical gastrostomy and tumoral mass excision. The patient then received chemotherapy and radiotherapy and underwent jejunal interposition. Patients with achalasia underwent surgical esophagomyotomy. Conclusion: The presence of solid dysphagia, malnutrition, and an associated disease may alert physicians to the presence of ES.