• Title, Summary, Keyword: dysplasia

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CLINICAL MANAGEMENT OF ECTODERMAL DYSPLASIA : A CASE REPORT (외배엽 이형성증 환자의 임상적 치험례)

  • Oh, So-Hee;Kwon, Soon-Won;Kim, Jong-Soo;Kim, Yong-Kee;Lim, Hun-Song
    • THE JOURNAL OF THE KOREAN ACADEMY OF PEDTATRIC DENTISTRY
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    • v.27 no.2
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    • pp.222-228
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    • 2000
  • Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structures and their accessory appendages. At least 120 subtypes of ectodermal dysplasia have been reported. The disease is usually transmitted as an X-linked recessive trait in which the gene is carried by the female and manifested in the male. Hypohidrotic ectodermal dysplasia is manifested as a triad of defects that include hypohidrosis, hypotrichosis and hypodontia. The characteristic facial features consist of asteatosis, onchodysplasia, sparse and fine blond hair, prominent forehead, a depressed nasal bridge, thick everted lips. The patient may suffer from dry skin, hyperthermia and unexplained high fever as a result of the deficiency of sweat glands. This case report presents detailed procedures of rehabilitating functional and esthetic defect of a 6-year-old boy with hypohidrotic ectodermal dysplasia along with the review of relevant literatures.

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Fibromuscular Dysplasia of the Distal Internal Carotid and Middle Cerebral Artery (원위 속목동맥과 중간대뇌동맥에 발생한 섬유근육형성이상)

  • Kim, Ju-Hyun;Lee, Jun
    • Yeungnam University Journal of Medicine
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    • v.26 no.1
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    • pp.78-83
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    • 2009
  • Fibromuscular dysplasiais an uncommon condition of idiopathic, non-inflammatory and non-atherosclerotic disease of the musculature of arterial walls. The disease is rare, but it commonly affects young and middle aged women. Isolated intracranial cerebral fibromuscular dysplasia is extremely rare because cerebral fibromuscular dysplasia usually affects extracranial vessels. A 20-year-old woman was admitted with light hemiplegia and global aphasia. Brain MRI and MRA demonstrated acute left middle cerebral artery territory infarction with a multifocal stenosis and dilatation of the left middle cerebra artery and left internal carotid. The characteristic conventional cerebral angiographic findings demonstrated a typical string-of-beads appearance in the left distal internal carotid artery and proxiaml portion of the left middle cerebral artery, which suggested a medial type fibromuscular dysplasia. We report a case of isolated intracranial fibromuscular dysplasia with left middle cerebral artery territory infarction. Fibromuscular dysplasia should he considered as a stroke risk factors in children and young adults, especially in patients with no known cardiovascular risk factors.

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Cranioplasty Using a Modified Split Calvarial Graft Technique in Cleidocranial Dysplasia

  • Jung, Young Taek;Cho, Jae Ik;Lee, Sang Pyung
    • Journal of Korean Neurosurgical Society
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    • v.58 no.1
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    • pp.79-82
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    • 2015
  • Cleidocranial dysplasia is a well-documented rare autosomal dominant skeletal dysplasia characterized by hypoplastic/aplastic clavicles, brachycephalic skull, patent sutures and fontanelles, midface hypoplasia, and abnormalities of dentition. Patients with cleidocranial dysplasia often complain about undesirable esthetic appearance of their forehead and skull. Notwithstanding many studies of molecular, genetics and skeletal abnormalities of this congenial disorder, there have been very few written reports of cranioplasty involving cleidocranial dysplasia. Thus, we report a rare case of successful cranioplasty using a modified split calvarial graft technique in patient with cleidocranial dysplasia.

Malignant Transformation of Fibrous Dysplasia on Anterior Skull Base

  • Lee, Chul-Jae;Kim, Seong-Min
    • Journal of Korean Neurosurgical Society
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    • v.37 no.5
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    • pp.383-385
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    • 2005
  • Malignant transformation of fibrous dysplasia is a rare condition and the incidence is estimated at 0.4% for fibrous dysplasia and 4% for Albright's syndrome. The authors did not find a reported case of malignant change at skull base around the orbit in the literature. We experienced a case of fibrous dysplasia, in which neurologic symptoms were aggravated due to malignant change around the orbit, and report its favorable outcome obtained with total surgical removal.

3 TYPES OF CEMENTO-OSSEOUS DYSPLASIA : CASE REPORTS (3가지 형태의 백악질-골성 이형성증에 대한 증례보고)

  • Kim, Young-Ran;Kim, Yeo-Gab;Lee, Baek-Soo;Kwon, Yong-Dae;Choi, Byung-Joon
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.35 no.6
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    • pp.481-485
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    • 2009
  • Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissues and involve, essentially, the same pathological process. They are usually classified, depending on their extent and radiographic appearances, into three main groups. Periapical cemental dysplasia predominantly involves the periapical region of the anterior mandible. Florid cemento-osseous dysplasia presents with multifocal lesions in the tooth bearing or edentulous areas of the maxilla and mandible, often occurring bilaterally with symmetric involvement. Focal cemento-osseous dysplasia exhibits a single site of involvement in any tooth bearing or edentulous area of the mandible or maxilla, with the posterior mandible representing the most common site. We report the clinical, radiographic and histological findings of 3 types of cemento-osseous dysplasia with a review of literatures.

Economic Consideration of Mass Screening Program for Early Detection of Carcinoma of the Uterine Cervix (자궁부암의 조기발견을 위한 집단 적격 검사 계획의 경제학적 고려)

  • Yang, Dal-Sun
    • Journal of Preventive Medicine and Public Health
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    • v.7 no.2
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    • pp.367-372
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    • 1974
  • Authors reviewed 2,362 cases of consecutive vaginal and cervical smears submitted to the Department of Pathology, Pusan Gospel Hospital during one year period from Jan. 1, 1974 to Dec. 31, 1974. Prevalence of dysplasia, carcinoma in situ and invasive carcinoma of the uterine cervix was analyzed, and cost per a lesion was calculated. The followings are conclusions: 1. Prevalence of dysplasia, carcinoma in situ and invasive carcinoma was 2.88%, 0.34% and 2.58% restectively. 2. Cost per a lesion for dysplasia was calculated as 34,735 Won, for carcinoma in situ, as 295,250 Won and for invasive carcinoma as 38,721 Won. Cost per a lesion for dysplasia and carcinoma in situ was calculated as 31,079 Won and for dysplasia and for all the lesions as 17,248 Won. 3. The results obtained suggested that mass cytologic screeiding for detection of dysplasia, carcinoma in situ and invasive carcinoma was reasonable in the present status of economy.

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PROSTHODONTIC AND ESTHETIC RESTORATION OF ECTODERMAL DYSPLASIA WITH ANODONTIA : A CASE REPORT (Anodontia 소견을 보이는 외배엽 이형성증 환자에서 교합기능, 심미기능 회복에 관한 치험증례)

  • Lee, Min-Ha;Yang, Kyu-Ho
    • THE JOURNAL OF THE KOREAN ACADEMY OF PEDTATRIC DENTISTRY
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    • v.21 no.2
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    • pp.570-576
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    • 1994
  • Ectodermal dysplasia is characterized by a partial or complete lack of primary and permanent teeth, other ectodermal structures that may be affected include the skin, hair, and sweat glands. The patient with the so-called anhidrotic type of ectodermal dysplasia exhibits dry skin, lack of sweat glands, sparse eyebrows, body hair, saddle nose, and everted lips. Genetic basis of anhidrotic ectodermal dysplasia is recessive and sex-linked, being manifested chiefly in males, but this is debatable. A 6-year-old boy, with typical signs of anhidrotic ectodermal dysplasia, was presented. Prosthetic restoratoins are of great value to these patients, both from the standpoint of function and for psychologic reasons. The need for complete denture is critical during preschool periods and continues into adulthood. The following case report is an approach to the management of a patient with anhidrotic ectodermal dysplasia.

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A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation

  • Kim, Hyun-Jin;Lee, Beom-Hee;Kim, Yoo-Mi;Kim, Gu-Hwan;Kim, Ok-Hwa;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.9 no.1
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    • pp.31-34
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    • 2012
  • Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings are characterized by narrow intervertebral disc spaces and moderate epiphyseal dysplasia of long bones. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2, the disease-causing gene of SEDT. This is the first Korean report with SEDT confirmed by genetic testing.

Bilateral Atrioventricular Valve Dysplasia in a Middle Aged Turkish Angora Cat: A Case Report

  • Ju, Jae-Beom;Kim, Keon;Park, Hee-Myung;Lee, Chang-Min
    • Journal of Veterinary Clinics
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    • v.36 no.6
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    • pp.336-339
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    • 2019
  • A castrated, 6-year-old, male Turkish Angora cat with a history of respiratory distress was referred to the hospital. Physical examination revealed a cardiac murmur, and thoracic radiographic findings revealed pleural effusion and cardiomegaly. Echocardiography showed abnormality of the tricuspid and mitral valve, and color-flow Doppler imaging revealed regurgitation between both atrium and ventricle. Based on the echocardiographic examination, tricuspid valve dysplasia concurrent with mitral valve dysplasia was diagnosed. However, the patient died a week after treatment. In necropsy, bilateral atrioventricular valve dysplasia and left ventricular hypertrophy were confirmed. This is the first report to describe a middle age Turkish angora cat having bilateral atrioventricular valve dysplasia which has high mortality and only been reported rarely in cats. This case report also describes its clinical signs, diagnostic imaging findings, treatment and discussions how the patient could live long.

Florid cemento-osseous dysplasia: a report of two cases (개화성 백악질-골 이형성증: 증례보고)

  • Kim, Nam-Kyun;Kim, Hyun-Sil;Kim, Jin;Nam, Woong;Cha, In-Ho;Kim, Hyung-Jun
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.37 no.6
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    • pp.515-519
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    • 2011
  • Cemento-osseous dysplasia occurs in the tooth bearing areas of the jaws and is probably the most common fibro-osseous manifestation. They are usually classified into three main groups according to their extent and radiographic appearance: periapical (surrounds the periapical region of teeth and are bilateral), focal (single lesion) and florid (scleroticsymmetrical masses) cemental-osseous dysplasias. Florid cemento-osseous dysplasia clearly appears to be a form of bone and cemental dysplasia that is limited to the jaws. Patients do not have laboratory or radiologic evidence of bone disease in other parts of the skeleton. For asymptomatic patients, the best management consists of regular recall examinations with prophylaxis and the reinforcement of good home hygiene care to control periodontal disease and prevent tooth loss. The treatment of symptomatic patients is more difficult. At this stage, there is an inflammatory component caused by the disease and the process is basically a chronic osteomyelitis involving dysplastic bone and cementum. Antibiotics might be suggested, but are not always effective. Two cases of florid cemento-osseous dysplasia diagnosed in two Korean females are reported with a review of the relevant literature.