• 대한치과의사협회지
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• 제57권2호
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• pp.93-99
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• 2019

Ectodermal dysplasia is a genetic disorder in which various clinical manifestations involve two or more of the differentiated tissues of the ectoderm. Facial deformity, which is frequently associated with ectodermal dysplasia, appears in the form of cleft lip or cleft palate, especially in the middle facial area.Cleft and tooth defects result in decreased alveolar bone development.This leads to severe skeletal incongruity. Facial features include frontal protrusion, malar bone hypoplasia, flat nose, mandibular prominence and long lower facial height. This clinical report presents treatment including orthognathic surgery of a patient with Hypohidrotic Ectodermal dysplasia with cleft palate.

• Asian-Australasian Journal of Animal Sciences
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• 제22권1호
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• pp.7-12
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• 2009

Lmbr1 is regarded as a key gene that controls the digital model formation in early developmental stages of the chicken. However, there are few reports of lmbr1 expression levels and tendencies in 4-toe and 5-toe chicken species. Therefore, the objective of this study was to compare the lmbr1 expression in White Leghorn (4-toe) and Chinese Silky (5-toe). Firstly, total RNA was extracted from 14 different embryonic development stages (HH3 to HH31) in White Leghorn and Chinese Silky. Secondly, dramatic gene expression changes of lmbr1 were monitored by RT-PCR, which indicated a general up-down-up tendency with subtle differences between these two species. Moreover, Q-PCR reactions were performed to quantitate the expression level of lmbr1 in the 14 selected developmental stages. These data demonstrated a first lmbr1 expression peak of 18.68 and 15.32, a lmbr1 expression trough of 6.61 and 1.80, and a second lmbr1 expression peak of 22.33 and 12.48 in White Leghorn and Chinese Silky, respectively. Finally, embryonic in situ hybridization analysis identified that lmbr1 expressed in the ectoderm in HH21, HH23 and HH24 developmental stages in both species.

• 대한소아치과학회지
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• 제7권1호
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• pp.41-45
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• 1980

The term "Oligodontia" or "Hypodontia" have been used to describe variable degrees of reduction in number of teeth. Oligodontia may occur alone or as a result of some syndrome. Although the teeth are derived in part from ectoderm, the current opinion of reason of oligodontia should be reserved for those disorders in which there is abnormal development of one or more ectodermal tissues. 7 year 5 months old female was refered to the department of pedodontics, college of dentistry Yonsei university for evaluation and replacement of absent teeth. She had no special inf.ectious disease in her childhood, and her parents were healthy. She had no special syndrome of ectodermal disorders except the saddle nose, yellow and fine hair, and notched upper anterior central incisor. Panex radiogram was showing 6 anterior primary teeth, 2 permanent first molars and 2 unerupted first bicuspid in mandible. Another permanent teeth were absent. and normal number of primary and permanent teeth in maxilla. Lateral cephalogram showed no special abnormality in growth pattern. We had evaluated lower anterior decayed teeth with jacket resin and chrome steel crown and removable partial denture at missing area. We had got good results for rehabilitation of function and aesthetic.

• Journal of Yeungnam Medical Science
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• 제15권2호
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• pp.381-390
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• 1998

저자들은 출생시부터 군집상의 홍반성 수포와 부분적으로 사마귀양 병변이 섞여 있는 피부병변을 보인 남아에서 생후 10주부터 갈색 및 검은 색의 색소 침착이 나타나 Bloch-Sulzberger 형의 색소실조증(incontinentia pigmenti)이 의심되어 시행한 피부 생검소견으로 호산성질을 함유한 다수의 수포성 병변이 과각화증과 함께 관찰되는 수포기(bullous stage)와 우상기(verrucous stage)에 속하는 색소실소증으로 확진되고 동반된 증상으로는 경련과 좌안 망막의 삼출성 병변이 관찰된 증례를 경험하였다. 이에 저자들은 지금까지 우리 나라에서는 2례 밖에 소개된 바 없는 남아에서 발생한 색소실조증을 문헌고찰과 함께 보고하였다.

• Journal of Korean Neurosurgical Society
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• 제37권1호
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• pp.29-33
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• 2005

Objective: Congenital dermal sinus is a rare congenital disease that results from the failure of the neuroectoderm to separate from the surface ectoderm during the process of neurulation, where there is communication between the skin and the deeper structures. Their pathogenesis, clinical course and treatment strategy are well known. We analyze our series and compare our results with other series. Methods: Twenty patients were diagnosed as congenital dermal sinus and confirmed pathologically from October 1986 to July 2003 at our hospital. We studied the patients' clinical manifestations, radiological findings and pathological profiles. Results: Seven cases were located in the suboccipital area and 13 cases were located in the spinal area. Interestingly, 4 of 13 spinal lesion cutaneous openings were located lower than the 3rd sacral body level. 8 of 20 lesions were terminated at neural structures, 4 of 20 lesions were terminated at the intradural portion and others terminated at the extradural portion. Nine anomalies were combined with the dermal sinus, including 4 lipomas, 2 Currarino's triad, 1 encephalocele, 1 myelomeningocele and 1 diastematomyelia. Eleven patients had dermoid tumors. Conclusion: Congenital Dermal Sinus must be surgically removed immediately if they are diagnosed. The surgical procedure of congenital dermal sinus is complete removal, but in some cases, complete removal is impossible. In those cases, we removed all epithelial tissues. We consider sacrococcygeal dimple almost invariably have no connection with intraspinal structures. But, if other cutaneous manifestations are combined with cutaneous pits, it can communicate with the sacrococcygeal dimple.

• 대한구순구개열학회지
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• 제10권1호
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• pp.17-22
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• 2007

The vertebrate upper lip forms from initially freely projecting maxillary, medial nasal, and lateral nasal prominences at the rostral and lateral boundaries of the primitive oral cavity. These facial prominences arise during early embryogenesis from ventrally migrating neural crest cells in combination with the head ectoderm and mesoderm and undergo directed growth and expansion around the nasal pits to actively fuse with each other. Initial fusion is between lateral and medial nasal processes and is followed by fusion between maxillary and medial nasal processes. Fusion between these prominences involves active epithelial filopodial and adhering interactions as well as programmed cell death. Slight defects in growth and patterning of the facial mesenchyme or epithelial fusion result in cleft lip with or without cleft palate, the most common and disfiguring craniofacial birth defect. This review will summarize the current understanding of the basic morphogenetic processes and molecular mechanisms underlying upper lip development.

• 대한약침학회지
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• 제23권4호
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• pp.187-193
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• 2020

Objectives: It was aimed to investigate the basic action mechanism of the autoimmune diseases and common features of all diseases. Autoimmune disease are classified organ specific and systemic. Methods: These diseases are seen systemic and disease start locations, origins seem differently. This makes learning and understanding difficult. Autoimmune diseases investigated for easier understanding. It was noticed that, autoimmune diseases' starting places are specific and same all of them. This remarkable point is very important for acupuncture also. So; whole literatüre was researched and important point was found. Results: Whole autoimmune diseases are attack to mesodermal layers and mesodermal origin organs of the body's. The common property of all these disease are same; Diseases start from the mesoderm and mesodermal layer even though their organ origins' belongs to different germ layer. From this point of view, we were able to classify autoimmune diseases simply and it was planned how can we effect body in this context with acupuncture. Conclusion: And, when immunity comes into question, induction of adaptive immunity is depend on antigen presentation to T cells and this situation take place in the lymph node (LN) and also in the skin.When we sank the acupuncture needle into skin, signals create and start mesodermal contacts, during this time mesenchymal origin' autoimmune cells are regulated with this signals.

• Anatomy and Cell Biology
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• 제56권4호
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• pp.421-427
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• 2023

Bladder exstrophy is a rare congenital condition of the pelvis, bladder, and lower abdomen that opens the bladder against the abdominal wall, produces aberrant growth, short penis, upward curvature during erection, wide penis, and undescended testes. Exstrophy affects 1/30,000 newborns. The bladder opens against the abdominal wall in bladder exstrophy, a rare genitourinary condition. This study is vital to provide appropriate therapy choices as a basis to improve patient outcomes. This study may explain bladder exstrophy and provide treatment. Epispadias, secretory placenta, cloacal exstrophy, and other embryonic abnormalities comprise the exstrophy-spades complex. The mesenchymal layer does not migrate from the ectoderm and endoderm layers in the first trimester, affecting the cloacal membrane. Embryological problems define the exstrophy-aspidistra complex, which resembles epimedium, classic bladder, cloacal exstrophy, and other diseases. Urogenital ventral body wall anomalies expose the bladder mucosa, causing bladder exstrophy. Genetic mutations in the Hedgehog cascade pathway, Wnt signal, FGF, BMP4, Alx4, Gli3, and ISL1 cause ventral body wall closure and urinary bladder failure. External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk. Bladder exstrophy has no identified cause despite these risk factors. Exstrophy reconstruction seals the bladder, improves bowel function, reconstructs the vaginal region, and restores urination.

• Journal of Chest Surgery
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• 제29권9호
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• pp.1023-1027
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• 1996

경동맥체 종양(carotid body tumor)은 총경동맥 분지부에 위치한 경동맥체 즉 화학 수용기에서 발생하는 종양으로서 그 발생빈도가 드물다. 이 경동맥 체의 기능은 혈액내 화학조성에 의해 호흡,혈압, 맥박수의 반사조절이 이루어지는 것으로 알려져 있다. 조직학적으로 대부분 주세포(chiefcell)로 구성되어 있고 대부분 피막에 쌓여 있으며 분엽성, 압축성으로 서서히 자라나중에 경부혈관을 둘러싸 압박하게되며 그 이외 다른 혈관이나 신경을 누르게 된다. 경동맥체의 치료방법은 수술적 절제, 방사선 조사, 색 전술등이 알려져 있으며 이중 외과적 절제가 대표적인 치료 방법으로 알려져 있다. 하지만 외과적 절제가 쉽지 않고수술중비교적 높은 이병율과뇌혈류 부전으로 인한 반측마비등의 후유증을 유발할 수 있기 때문에 고도의 주의를 요한다. 저자들은 경동맥 체종양으로 진단받고 절제수술을 받은 2례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Imaging Science in Dentistry
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• 제49권4호
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• pp.317-321
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• 2019

Steatocystoma multiplex is an uncommon benign skin disease, which typically manifests as numerous intradermal cysts that can be scattered anywhere on the body. Although usually asymptomatic, it can be significantly disfiguring. One type of steatocystoma multiplex is known to be associated with the autosomal dominant inheritance of a mutation in the gene coding for keratin 17 (KRT17). In such cases, it is often concurrent with other developmental abnormalities of the ectoderm-derived tissues, such as the nails, hair, and teeth. To the best of our knowledge, few cases have been reported of steatocystoma multiplex of the oral and maxillofacial region. This report describes a case of steatocystoma multiplex of both sides of the neck and multiple dental anomalies, with a focus on its clinical, radiological, and histopathological characteristics, as well as the possibility that the patient exhibited the familial type of this condition.