외배엽 이형성증 환자의 치험례

장향길,이상호,이난영 大韓小兒齒科學會 2009 大韓小兒齒科學會誌 Vol.36 No.4

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 Ectodermal dysplasia is a genetic disease which shows various congenital dysplasias in tissues differentiated from the ectoderm. As the most common type of the ectodermal dysplasia, hypohidrotic ectodermal dysplasia(HED) shows dysplasia mainly in the hair, fingernails, teeth and the skin. Symptoms are more severe in males than in females and heterozygous females are usually normal showing no symptom. The treatment for these patients differ according to individuals, but since patients can easily become depressed socially and emotionally due to a decrease in mastication and speech function caused by multiple loss of teeth as well as some aesthetic problems, an early treatment is required. In a case, with a 10 years-old boy diagnosed with HED which shows partial edentia of the maxilla, and the edentia of the mandible in the pediatric dentistry department of the Chosun University Dental Hospital, a fabrication of denture resulted in the recovery of mastication and speech function and aesthetic improvement due to an increase of the face height.

외배엽 이형성증 어린이의 구강 회복: 증례보고

이은경,김지연,김신,정태성,Lee, Eungyung,Kim, Jiyeon,Kim, Shin,Jeong, Taesung 대한장애인치과학회 2017 International Journal of Disability and Oral Healt Vol.13 No.1

본 증례에서와 같이 외배엽 이형성증 환자에서는 획일화된 치료 방법은 없다. 술자 입장에서는 기능적 또는 형태적으로 완벽한 장치가 아니라 할지라도, 외배엽 이형성증의 무치악 환아에게는 심미적 요구가 만족됨으로써 자존감을 드높일 수 있는 치료가 될 수 있다. 특히 외배엽 이형성증 환아는 어린 나이에 의치 장착을 시작하기 때문에 환자의 나이와 구강상태, 심미적인 요구 수준, 저작 방법 등 여러가지를 고려한 개별적 맞춤화 과정을 통해 치료방법을 찾는 것이 중요하다. 또한 환자의 성장에 맞춰 장치를 교환해주며 타 과와의 활발한 교류로 최선의 치료를 해주는 것이 추천되며, 술자와 환자 및 환자 보호자간의 충분한 대화를 통해 치료 방법을 신중하게 결정하는 것이 좋다. Ectodermal Dysplasia is a genetic disorder caused by the abnormal development of two or more structures derived from the ectodermal layer. As an aspect in dentistry, ectodermal dysplasia is characterized by hypodontia, conical or peg-shaped teeth, reduced salivary secretion and decreased vertical dimension. These unfavorable oral conditions make children to have difficulties with mastication, esthetics, and even in social activities. This case report presents an alternative oral rehabilitation treatment of a 4-year-old boy with ectodermal dysplasia. A removable space maintainer with artificial teeth in maxillary arch was delivered according to the initial treatment plan. However, the child failed to adapt the appliance because of his masticatory habit. Then a fixed-type space maintainer was delivered on the patient's esthetic demand and it restored function, esthetics and self-esteem of the patient. The treatment described here suggests that individually customized considerations are essential for the oral rehabilitation of a patient with ectodermal dysplasia.

Interdisciplinary treatment for ectodermal dysplasia

Kim, Jin-Hee,Hoe, Young-Ku,Oh, Jang-Kyun 대한치과교정학회 2000 대한치과교정학회지 Vol.30 No.6

외배엽 이형성증(ectodermal dysplasia)는 외배엽에서 분화되는 조직의 일부에 선천적인 이형성이 나타나는 유전적 질환으로 모낭 및 땀샘의 결여로 인한 성긴 모발과 눈썹, 눈과 입주위 피부의 착색 및 각화와 치아형성의 이상 등이 특징적으로 나타나는 질환이다. 구강내 소견으로 무치증 혹은 부분 무치증을 보이며 부분 무치증의 경우 치관이 원추형으로 나타나 결과적으로 전반적인 치아간극 및 수직고경의 감소로 저작 및 발음기능의 저하 뿐 아니라 심미적이지 못한 안모로 사회적 및 정서적 우울감에 빠지기 쉬우므로 조기치료가 요구된다. 바람직한 보철물 제작 및 안모의 개선을 위해서는 교정과 및 타 전문과와의 협진이 요구되며, 본 증례에서는 ectopic dysplasia로 진단된 10세 남아를 교정의사와 보철의사의 긴밀한 협진으로 저작 및 발음기능의 회복과 안면고경의 증가로 심미성이 개선된 좋은 결과를 얻었기에 보고하고자 한다. Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structures. Characteristic manifestations include scanty hair and eyebrows, pigmented and hyperkeratinized skin around the eyes and mouth, frontal bossing with prominent supraorbital ridges, nasal bridge depression and dental anomalies. Hyperthermia or unexplained high fever as a result of the deficiency of sweat glands is common medical history. Findings of intraoral structures are anodontia or oligodontia with conical crowns. Consequently, generalized spacing and loss of vertical dimension of occlusion. Interdisciplinary approach has been performed to treat a 10-year old boy with ectodermal dysplasla. Orthodontists and a prosthodontist worked together on this case, and the result was satisfactory.

Complete denture rehabilitation of a patient with anodontia from ectodermal dysplasia: A case report

Wonkyu Shin,Hyuntae Kim,Ji-Soo Song,Teo Jeon Shin,Hong-Keun Hyun,Jung-Wook Kim,Ki-Taeg Jang,Young-Jae Kim Asia Association for Disability and Oral Health 2022 대한장애인치과학회지 Vol.18 No.1

Ectodermal dysplasia is a condition in which two or more ectodermal origins fail to develop. X-linked hypohidrotic ectodermal dysplasia, the most common form of this disorder, is characterized by a triad of signs: hypohidrosis, hypotrichosis, and hypodontia. Dental management of these patients is necessary not only for their functional and esthetic needs, but for social rehabilitation. This report shows a case of a patient with anodontia from ectodermal dysplasia, treated with maxillary and mandibular complete dentures. The overall process of fabricating dentures followed that for edentulous elderly patients. Each step is challenging both for the patient and the clinician. Children usually cannot endure certain procedures such as impression taking. Teeth selection and denture retention are another consideration for clinicians, since jaws are continuously growing and developing in children. In this case, both the patient and his parents reported satisfaction after rehabilitation, and short term follow up results show good stability and retention in both dentures.

양안 눈물흘림을 주소로 내원한 손발가락결손증-외배엽형성이상-구순구개열 증후군 1예

이상민(Sang Min Lee),박종서(Jong Seo Park),유혜린(He len Lew) 대한안과학회 2016 대한안과학회지 Vol.57 No.12

목적: 재발하는 코눈물관폐쇄로 내원한 손발가락결손증-외배엽형성이상-구순구개열 증후군 환자 1예를 보고하고자 한다. 증례요약: 18세 남자 환자가 양안 눈물흘림을 주소로 내원하였다. 1세부터 눈물길폐쇄로 진단 받고 좌안 누낭절개술, 양안 실리콘관삽입술, 우안 내시경 코경유 눈물주머니코안연결술을 받은 과거력이 있었다. 전신소견으로는 고르지 못한 치열, 양측 손가락결손증, 좌측 발가락합지증이 있었다. 눈물소관 관류검사에서 양측 모두 ‘분비물을 동반하지 않은 역류’ 소견을 보였으며, 존스색소검사에서 양안 모두 음성이었다. 눈물주머니조영술에서는 양측 모두 완전 폐쇄 소견을 보였으며, 양측 코눈물관폐쇄 진단하 전신마취하 우안에 결막눈물주머니 연결술과 존스씨관 삽입술을, 좌안에 내시경하 눈물주머니코안연결술을 시행하였다. 염색체 검사 결과는 정상이었다. 결론: 손발가락결손증-외배엽형성이상-구순구개열 증후군 환자에서 발생한 코눈물관폐쇄는 코눈물관의 이형성에 의한 것뿐만 아니라, 눈물점과 눈물소관이형성을 동반하는 경우도 있다. 이 점을 주목하여 손발가락결손증-외배엽형성이상-구순구개열 증후군 환자의 코눈물관폐쇄에서 진단에 맞는 적절한 치료가 필요하다. 또한 수술 실패율이 높을 수 있음을 염두에 두어야 한다. Purpose: In the present study, a case of recurrent nasolacrimal duct obstruction as ectrodactyly-ectodermal dysplasia-cleft syndrome is reported. Case summary: An 18-year-old male complained of epiphora in both eyes. By the age of 1, he was diagnosed with nasolacrimal duct obstruction and received left side dacryocystotomy, both sides silicone tube insertion and, right side endoscopic dacryocystorhinostomy. The general findings showed microdontia and, bilateral ectrodactyly. An irrigation test showed ‘regurgitation without pus’ and Jones test showed ‘negative’ in both sides. Complete obstruction was observed on dacryocystography and the patient underwent endoscopic conjunctivodacryocystorhinostomy with Jones tube at right side and endoscopic dacryocystorhinostomy at left side. The chromosome test showed normal findings. Conclusions: Nasolacrimal duct obstruction in ectrodactyly-ectodermal dysplasia-cleft syndrome is usually caused by dysplasia of the nasolacrimal duct and accompanied by dysplasia of lacrimal punctum and canaliculus. Providing proper care for nasolacrimal duct obstruction in ectrodactyly-ectodermal dysplasia-cleft syndrome is important. Furthermore, the high failure rate should be considered.

[P223] A case of Hay-Wells syndrome

( Sung Eun Song ),( Seung Gi Hong ),( Sun Young Jo ),( Ki Woong Ro ),( Eun Phil Heo ) 대한피부과학회 2017 대한피부과학회 학술발표대회집 Vol.69 No.1

Hay-Wells syndrome, also known as Ankyloblepharon-Ectodermal dysplasia-Cleft lip/palate (AEC) syndrome, is a rare form of ectodermal dysplasia. It was first described by Hay and Wells in 1976. It is an autosomal dominant disorder caused by mutations in the gene encoding the transcription factor p63 (TP63). This disorder is characterized by ankyloblepharon, cleft lip/palate, and congenital ectodermal dysplasia (alopecia, scalp infections, dystrophic nails, hypodontia). 1-day-old female baby referred to inpatient dermatologic consultation with diffuse erythematous erosive patches on whole body. She had congenital anomalies includingankyloblepharon and cleft palate. She also had nail dystrophy on all fingernails and toenails. These clinical findings are compatible with Hay-Wells syndrome. She was treated by normal saline cleansing, emollients, and form dressing. Surgical corrections are scheduled for ankyloblepharon and cleft palate. Herein, we report a rare case of ectodermal dysplasia, Hay-Wells syndrome.

구개열을 동반한 저한성 외배엽형성이상 환자의 악교정수술을 포함한 치료

김좌영(Jwa-Young Kim),박인영(In-Young Park),송윤정(Yun-Jung Song) 대한치과의사협회 2019 대한치과의사협회지 Vol.57 No.2

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.

안구증상을 동반한 Ectrodactyly - Ectodermal Dysplasia - Clefting(EEC) 증후군 1례

이승민(Seung Min Lee),채규영(Kyu Young Chae) 대한소아신경학회 2001 대한소아신경학회지 Vol.9 No.1

EEC 증후군의 전형적인 임상 증상과 함께 안구 자기공명영상을 통해 특이한 안구증상인 양쪽의 낭과 시신경 형성부전이 있음을 확인하였으며, 피부생검상 nevus lipomatosus cutaneous superficialis가 동반되었음을 확진하여 보고하는 바이다. The ectrodactyly-ectodermal dysplasia-clefting(EEC) syndrome is a rare autosomal dominant disease which has multiple congenital anomalies characterized by ectodermal dysplasia, distal limb anomaly, cleft lip and palate, and lacrimal duct anomalies. There is wide variability of clinical ezpression of this syndrome, and occasional nonpenetrance. We report a 1 year old girl with typical EEC syndrome manifestations, who presented dry skin, light colored sparse hair on scalp, cleft lip and palate, microdontia with oligodontia, partial syndactyly of the hands, total syndactyly of the feet and mild developmental delay, including ocular defects and skin lesions. Ocular MRI Showed microphthalmia with cystic mass on both eye globes and atrophy of the optic nerves. Vesicle like skin lesions were consistent with nevus lipomatosus cutaneous superficialis by pathologic study.

무한성 외배엽 이형성증 환자의 안과적 소견

이명원,이동초,장무환.Myung Won Lee. M.D.. Dong Cho Lee. M.D.. Moo Hwan Chang. M.D. 대한안과학회 2007 대한안과학회지 Vol.48 No.7

Purpose: This clinical report describes the characteristics and ophthalmic treatment of a patient with anhidrotic ectodermal dysplasia showing bilateral upper eyelid entropion, conjunctival mass and dry eye syndrome. Methods: A 12-year-old boy presented to our clinic complaining of a white mass on the lower tarsal conjunctiva, foreign body sensation, and an itching in his right eye of one-year duration. He had developmental defects in his hair, teeth, nails and sweat glands. He had dry skin, a flat upper-lip, heat intolerance, a saddle-backed nose, and hypohidrosis. Ophthalmic examination showed blepharitis, a conjunctival mass, and bilateral upper eyelid entropion. Results: Upper eyelid entropion surgery was performed. An excisional biopsy of the conjunctival mass showed nonspecific acute and chronic inflammation. Conclusions: We concluded that the conjunctival mass developed as a result of chronic inflammation caused by chronic conjunctivitis and dry eye syndrome. Regular lid-hygiene with swab and lubrication is useful to minimize recurrent ocular inflammation in anhidrotic ectodermal dysplasia.

Full mouth implant rehabilitation of a patient with ectodermal dysplasia after orthognathic surgery, sinus and ridge augmentation: a clinical report

Mohammad Bayat/,Mohammad Mohsen Khobyari,Mohsen Dalband,Fatemeh Momen-Heravi 대한치과보철학회 2011 The Journal of Advanced Prosthodontics Vol.3 No.2

An 18-year-old male presented severe hypodontia due to hypohidrotic ectodermal dysplasia was treated with Le Fort I maxillary osteotomy with simultaneous sinus floor augmentation using the mixture of cortical autogenous bone graft harvested from iliac crest and organic Bio-Oss to position the maxilla in a right occlusal plane with respect to the mandible, and to construct adequate bone volume at posterior maxilla allowing proper implant placement. Due to the poor bone quality at other sites, ridge augmentation with onlay graft was done to construct adequate bone volume allowing proper implant placement, using tissue harvested from the iliac bone. Seven implants were placed in the maxilla and 7 implants were inserted in the mandible and screw-retained metal ceramic FPDs were fabricated. The two year follow up data showed that dental implants should be considered as a good treatment modality for patients with ectodermal dysplasia.