• 대한소아치과학회지
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• 제21권2호
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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.

• 한국임상수의학회지
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• 제21권2호
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• pp.209-213
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• 2004

A 8 kg, 3-year-old male West Highland white terrier dog with a 1.5-year history of chronic, severely pruritic, seborrheic skin disorder was referred to the Veterinary Medical Teaching Hospital of the Tokyo University of Agriculture and Technology. On physical examination, lesions were observed on entire cutaneous surface, except for face, dorsum of body, and footpads. Skin lesions were characterized by diffuse erythema, erythematous papules, severe alopecia, hyperpigmentation, and lichenification. Tape strip tests of skin lesions revealed cocci and Malassezia infections. The intradermal allergy tests revealed positive reactions to Japanese cedar pollen, but the non-seasonal clinical signs were not compatible with atopic dermatitis caused by this pollen. Results of hematological examination, serum chemistry and thyroid gland profile were normal. Examination of skin biopsy exhibited hyperplastic superficial perivascular dermatosis with severe acanthosis, excessive keratinocyte mitoses, patchy or diffuse mild spongiosis, and lymphocytic exocytosis in epidermis. Perivascular to interstitial mononuclear cells infiltration was seen in the superficial dermis. Based on the results of examination described above, epidermal dysplasia was diagnosed. Treatments with administration of antibiotics, etretinate, and prednisolone orally combined with topical ketoconazole cream and antiseborreic shampoos had no good results. Following treatment with long-term oral itraconazole at 10 mg/kg daily and chlorhexidine shampoos was successful. However, when itraconazole therapy was stopped, the condition worsened twice within 2 or 3 months. Readministration of itraconazole produced improvement within 4 weeks. This dog has now been controlled periodical itraconazole therapy.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제20권3호
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• pp.232-236
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• 1998

Fibrous dysplasia is a benign pathologic condition of bone which medullary bone is replaced and disturbed by poorly organized, structually unsound fibro-osseous tissue. When facial bones are involved, considerable esthetic deformity may result. The term monostotic fibrous dysplasia has been applied when one bone is involved : when more than one bone is affected, the term polyostotic used. The polyostotic form may be accomplished by pigmented skin lesion (Jaffe type), or by pigmented skin lesions with endocrine disturbance (Albright syndrome). No general agreement exists on the cause of fibrous dysplasia. A few authors have suggested that fibrous dysplasia as a result of trauma. It occurs predominantly in infant, adolescent females and runs a variable clinical coures. When several bones are involved, it tends to be unilateral. Involvements of alveolar bone may produce displacement of teeth with malocclusion, or loss of teeth, or both. Now, we will present a case of fibrous dysplasia on the left facial region treated by conservative contouring surgery.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제12권3호
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• pp.68-73
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• 1990

Fibrous dysplasia is an idiopathic skeletal disorder in which medullary bone is replaced and disturbed by poorly organized, structually unsound fibroosseous tissue, which may produce cortical expansion. When facial bones are involed, considerable esthetic deformity may result. The term monostotic fibrous dysplasia has been applied when one bone is involved : when more than one bone is affected, the term polyostotic used. The polyostotic form may be accomplished by pigmented skin lesion (Jaffe type), or by pigmented skin lesions with endocrine disturbance (Albright syndrome). No general agreement exists on the cause of fibrous dysplasia. A few authors have suggested that fibrous dysplasia arises as a resujlt of trauma. It occurs predominantly in infant, adolescent females and runs a variable clinical course. When several bones are involed, it tends to be unilateral. Involements of alveolar bone may produce displacement of teeth with malocclusion, or loss of teeth, or both. Radiographycally, it shows an indistinctly delimited osteolytic defect with a bubble - like pattern, but without a sclerotic rim. The preferred treatment is almost always surgery. If the lesion is extensive, surgical intervention with use of recontouring procedures aimed at the correction of esthetic or funtional disturbances is preferred treatment. Now, we present a case of fibrous dysplasia on the left maxilla and the zygoma treated by bony contourign via hemicoronal flap and intraoral approach with good results.

• 대한소아치과학회지
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• 제27권2호
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• pp.222-228
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• 2000

Ectodermal dysplasia(외배엽 이형성증)은 외배엽성 기관에 한가지 이상의 선천적 이상소견을 특징으로 하는 질환이다. Ectodermal dysplasia는 약 120종류 이상이 보고되고 있고, 이 중 Hypohidrotic ectodermal dysplasia가 가장 잘 알려져 있으며 이는 성염색체 열성인자에 의해 유전되며 남성에서 호발한다고 한다. 임상증상으로는 무한증, 감모증, 무치증 혹은 핍지증이 가장 특징적이다. 이외에도 무피지종, 손톱이형성증, 가늘고 성긴 머리카락, 두드러진 이마, 안장코, 돌출된 안와상부, 입술의 돌출과 함께 피부가 건조하고 땀샘이 결핍되어 있어서 더위를 참지 못하고 발열이 일어나기 쉽다. 본 증례의 환자는 단국대학교 치과병원 소아치과에 내원한 6세 6개월된 남아로써 무치증을 보이는 Hypohidrotic ectodermal dysplasia로 진단되었고 환자의 심미적 기능적 결함을 해소하기 위해 총의치로 치료를 시행하는 동안 다소의 지견을 얻어 이를 보고하는 바이다.

• 치과방사선
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• 제9권1호
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• pp.37-43
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• 1979

The authors observed 2 cases of fibrous dysplasia on the cranial and maxillofacial bones in 31, 28 aged sisters, who had come to the Infirmary of Dental College, Yonsei University. The serial roentgenograms and clinical findings had been taken and the results established as polyostotic fibrous dysplasia according to the findings in their images. The authors have obtained the results as follows: 1. Bony expansion of the mandible occured at 18 years of age and the facial assymetry appeared due to development of the lesions. 2. The traumatic history were not noted but weak tendency of familial history noted 3. Endocrine disturbances, hyperpigmentation on the skin and premature puberty in the infancy were not noted. 4. We have concluded these diseases as polyostotic fibrous dysplasia on the cranial and maxillofacial bones with weak familial tendency according to the findings

• 한국임상수의학회지
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• 제22권2호
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• pp.157-159
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• 2005

2개월령의 체중 2.1 kg인 Shih Tzu 견이 검은색 피모의 탈모로 내원하였다. 탈모는 5주령부터 시작되었으며 소양감의 병력은 없었다. 탈모증상이외의 다른 증상은 관찰되지 않았다. 신체검사에서 탈모이외의 증상은 발견되지 않았으며 육안피부검사에서 몸통, 다리, 귀, 꼬리부위에서 흑색 피모의 현저한 탈모가 관찰되었다. 반면에 백색피모는 밀도와 감촉은 정상이었다. 박피검사에서 기생충은 발견피지 않았으며 진균배양 검사는 음성이었다 흑색피모의 현미경 검사에서 피모줄기에 침윤된 다량의 멜라닌색소로 인해 피모줄기 형태의 변형이 관찰되었다. 그러나 백색피모는 정상이었다. 따라서 발병시기, 흑색피모탈모, 피모의 멜라닌색소침착을 통해 Shih Tzu종에서 발생한 Black Hair Follicular Dysplasia 진단하고 증례보고하는 바이다

• 대한소아치과학회지
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• 제36권4호
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• pp.631-639
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• 2009

외배엽이형성증(Ectodermal dysplasia, ED)은 외배엽에서 분화되는 조직에 다양한 선천적 이형성이 나타나는 유전적 질환이다. 외배엽이형성증 중에서 저한성 외배엽이형성증(Hypohidrotic ectodermal dysplasia, HED)은 가장 흔한 유형으로 주로 모발, 손톱, 치아, 그리고 피부에 이형성을 보인다. 남성에서 여성보다 증상이 심하게 나타나며, 보인자인 여성은 정상으로 보이는 경우가 많다. 이러한 환자를 위한 치료는 개인마다 차이가 있으나, 다수의 치아상실로 인한 저작 및 발음기능의 저하 뿐만아니라 심미적이지 못한 안모로 사회적, 정서적 우울감에 빠지기 쉬우므로 조기치료가 요구된다. 본 증례에서는 조선대학교 치과병원 소아치과에 내원하여 상악의 부분무치증 및 하악의 무치증을 보이는 HED로 진단된 10세 남아에서 의치제작을 통해 저작력의 증가, 발음기능의 회복 및 안면고경의 증가로 심미성이 개선된 좋은 결과를 보였다

• Childhood Kidney Diseases
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• 제3권2호
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• pp.237-240
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• 1999

The presence of polyostotic fibrous dysplasia of bone, hyperpigmented skin macules, and precocious sexual development in children is known as the McCune-Albright syndrome. In addition to the described in McCune-Albright syndrome, other endocrinopathies have been reported including hyperthyroidism, acromegaly, Cushing syndrome and vitamin D resistant rickets. The case describes a 6-year-old boy showing bony deformities due to polyostotic fibrous dysplasia, hyperpigmented skin macules, hyperthyroidism and vitamin D resistant rickets. The purpose of this report is to describe a patient of McCune-Albright syndrome with vitamin D resistant rickets which is very rare.

• Clinical and Experimental Pediatrics
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• 제56권3호
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• pp.135-138
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• 2013

Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth, except for a skin defect over the sternum and a supraumbilical raphe. Multiple hemangiomas appeared subsequently on her chin and upper chest wall, and respiratory distress due to subglottic hemangioma developed during the first 2 months of life. Her symptoms were controlled with oral prednisolone administration. No respiratory distress have recurred during the 3-year follow-up period.