• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.43 no.3
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• pp.171-177
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• 2017

Amniotic constriction band is a rare clinical entity with varied manifestations that range from a combination of congenital malformations to isolated malformations that are unique to each patient. The etiology of this entity remains unknown. Herein, we highlight two cases of amniotic constriction band that presented to our unit with unique clinical characteristics. To the best of our knowledge, an isolated circumferential band of scarring on the face with ocular involvement, as demonstrated by the first case, and a combination of bilateral complete cleft lip and palate with bilateral microphthalmia, auto-amputation of the right thumb, and a constriction band on the left thumb, as demonstrated by the second case, are extremely rare presentations of amniotic constriction band that were not previously reported in the literature and therefore necessitate a special mention. We discuss potential etiologies for these cases and review the existing literature on this entity.

• Intestinal research
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• v.11 no.3
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• pp.155-160
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• 2013

Behçet's disease (BD) is a systemic immunological disorder characterized by recurrent mucosal ulcerative lesions including oral and genital ulcerations in association with skin and ocular involvements. BD also can involve the gastrointestinal tract. Gastrointestinal involvement of BD is one of the major causes of morbidity and mortality for this disease. However, clinical data are quite limited because of the rarity of intestinal BD. Therefore, the management of intestinal BD is heavily dependent on expert opinions and standardized medical treatments of intestinal BD are yet to be established. In this brief review, the authors summarized the currently available medical treatments such as 5-aminosalicylic acids, corticosteroids, immuno-modulators, and anti-TNF agents. Moreover, we sought to suggest a treatment algorithm for intestinal BD based on the recently published and updated data.

• Journal of Veterinary Clinics
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• v.35 no.6
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• pp.311-314
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• 2018

Squamous cell carcinoma (SCC) is a form of neoplasm that origins from the epithelial surface of many organs. Ocular occurrence in small animals is rare, especially in the central cornea without the involvement of limbus or conjunctiva. In the current case, a 10-year-old, spayed female Shih-Tzu was presented with a central corneal mass. Through an ophthalmic examination the sign of corneal scarring around the mass was found. Pink fleshy lesion that protruded outward was removed through superficial keratectomy. The mass with the size of $8.5{\times}6.5$ millimeter was histopathologically diagnosed as corneal SCC infiltrating not only the epithelium, but also the superficial corneal stroma with surrounding superficial lymphoplasmacytic and neutrophilic chronic keratitis. Also, the adjacent, non-affected corneal epithelium was markedly hyperplastic and keratinized; the adjacent stroma was moderately vascularized and fibrotic. The pulse-dose therapy using 1% topical 5-flourouracil were applied for five cycles. The tumor has not recurred through nine months of follow-up time.

• Annals of Clinical Neurophysiology
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• v.21 no.2
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• pp.94-97
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• 2019

The patients with myotonic dystrophy (MD) show ocular motor abnormalities including strabismus, vergence deficits, and inaccurate or slow saccades. Two theories have been proposed to explain the oculomotor deficits in MD. The central theory attributes the defects of eye movements of MD to the involvement of the central nervous system while the muscular theory attributes to dystrophic changes of the extraocular muscles. A 58-year-old woman with MD showed selective slowing of horizontal saccades and reduced peak velocities for both horizontal canals in head impulse tests, while smooth-pursuit eye movements and vertical head impulse responses were normal. This case suggests that the extraocular muscles-as a final common pathway of the voluntary saccade and reflexive vestibular eye movements-may better explain the defective rapid eye movements observed in MD.

• Clinical and Experimental Pediatrics
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• v.46 no.6
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• pp.606-609
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• 2003

Goltz syndrome(focal dermal hypoplasia) is a rare disorder characterized by ectodermal and mesodermal dysplasia described in 1962 by Goltz. In Korea, one case of Goltz syndrome was reported in 1994. The inheritance mode is mostly X-linked dominant. Skin abnormality is the most common manifestation including hypoplasia of the dermis. Skeletal involvement such as syndactyly, polydactyly, scoliosis, kyphosis and spina bifida occulta may be present, also ocular and dental abnormalities are reported. Radiologic findings are the osteopathy and striation of the long bone. We experienced a case of Goltz syndrome in a 9-year old female who was presented with right side hypotrophy, focal dermal hypoplasia, ocular(anidria, microcornea), dental(oligodontia, amelogenesis) and skeletal(syndactyly) abnormalities. Skin biopsy was performed and showed decreased expression of type I collagen gene with Northern blotting.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.1
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• pp.145-149
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• 2009

Sturge-Weber Syndrome is a rare congenital disorder and is characterized by port wine nevus following one or more divisions of trigeminal nerve, ocular involvement(eg, glaucoma) and neurologic involvement(eg, epilepsy, mental retardation). Oral menifestations include unilateral blood vessel expansion of the oral mucosa and gingiva, gingival hyperplasia, giant tooth, ipsilateral large tongue, blood vessel anomaly of maxilla or mandible and abnormal eruption sequence. This case report is about 8-year-old Sturge-Weber Syndrome patient presented violet discoloration on upper gingiva and buccal mucosa, gingival hyperplasia and abnormal eruption sequence. In this case, we performed lingual frenectomy and periodic oral hygiene management, and obtained satisfactory result.

• Archives of Plastic Surgery
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• v.35 no.3
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• pp.321-324
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• 2008

Purpose: Lymphoma originated from mucosa associated lymphoid tissue(MALT) is most common in gastrointestinal system, and rarely found in salivary gland, thyroid, bronchus or orbit. We experienced a case of MALT lymphoma which was originated from conjunctiva and involving lower eyelid without metastasis. Methods: A 40-year-old man suffered palpable mass on right lower eyelid without pain. Orbital computed tomographic and ultrasonographic findings showed a conical mass($1.9{\times}1.2{\times}0.9cm$ size) inside lower eyelid. The mass was completely excised under local anesthesia and histopathological examination was followed. Results: Microscopic finding showed a multiple follicular colonization. In the follicle, small lymphocytes and plasma cells differentiated to centrocyte-like cell, monocyte B cell, plasma cell were diffusely infiltrated. Immunophenotyping was preformed on fixed section. The majority of the small cells were immunoreactive for the B cell marker CD20. Based on the typical histological findings supported by immunostaining, the mass was defined as MALT lymphoma. After excision, SPECT, abdominal CT was carried out and there were no evidence of extraorbital disease. Conclusion: Biopsy and pathological examination should be performed in patients who complain palpable mass on lower eyelid because of possibility of MALT lymphoma. Although MALT lymphoma is rarely metastasized, it is necessary to evaluate the extraorbital involvement using SPECT or other radiologic exams. For detecting extraorbital involvement, periodic follow-up examination is need.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.6 no.1
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• pp.15-18
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• 2010

Sturge-Weber syndrome is a rare nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation involving the tissue of brain and face. The clinical features are characterized by port wine nevus following one or more divisions of trigeminal nerve, ocular involvement and neurologic involvement such as epilepsy, mental retardation, and contralateral hemiplegia. Oral manifestations include unilateral blood vessel expansion of the oral mucosa, vascular hyperplasia of gingiva, pyogenic granuloma-like massive hemangiomatous proliferation of oral mucosa, macrodontia, ipsilateral macroglossia, blood vessel anomaly of maxilla or mandible and abnormal tooth eruption sequence. This case report is about 11-year-old Sturge-Weber syndrome patient presented port wine nevus on the face, venous malformation on soft plate and buccal mucosa. In this case we performed simple extraction of several deciduous teeth and periodic oral hygiene management. If a patient with Sturge-Weber syndrome has to undergo dental surgery in affected areas of the mouth, great care must be taken to prevent severe hemorrhage.

• Tuberculosis and Respiratory Diseases
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• v.46 no.6
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• pp.861-868
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• 1999

Relapsing polychondritis (RP) is a rare inflammatory disorder of unknown etiology, causing recurrent inflammatory and degenerative reactions involving the cartilaginous structures throughout the body. Generally, RP is known as multiorgan disease presented as auricular chondritis, arthritis, nasal chondritis, ocular inflammation, audiovestibular damage and respiratory tract inflammation. Major airway involvement occurs in more than 50% of the patient and has been reported to be the primary cause of death. Rarely, it may be presented with only respiratory symptoms without typical clinical manifestation of RP. We experienced a 64-year-old male patient with RP involving diffuse airway tract without other characteristic clinical manifestation and present here with a review of literatures.

• Clinical and Experimental Pediatrics
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• v.45 no.4
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• pp.535-539
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• 2002

Incontinentia pigmenti is a rare neurocutaneous syndrome characterized by vesiculobullous skin disease in neonates and infants, a noninfectious disease that should be distinguished from infectious diseases with the neonatal seizure or encephalopathy. This disease is X-linked dominant with Xq28 region abnormalities and often associated with developmental defects of the ocular, skeletal, dental, and central nervous system. Central nervous system involvement in the neonatal period, or complicated by encephalopathy, may cause severe neurologic impairment, retardation or even death. We experienced a case of incontinentia pigmenti in a three-day-old female patient who had characteristic papulovesicular skin lesions and partial seizures with secondary generalization. Histopathological examination favored the diagnosis of incontinentia pigmenti and a brain MRI showed undifferentiated white matters with periventricular nodular lesions.