Examen clinique, Radiographies ,Biopsie , conseil génétique . La plupart des maladies héréditaires du tissu conjonctif sont diagnostiquées sur les symptômes et des manifestations cliniques.
Les radiographies peuvent mettre en évidence des anomalies osseuses susceptibles d’être associées à une maladie du tissu conjonctif.
Une biopsie (prélèvement d’un échantillon tissulaire qui sera analysé au microscope) peut également être utile.
Syndromes d’Ehlers-Danlos, pseudoxanthome élastique, maladie de Marfan, cutis laxa et l’ostéogénèse imparfaite ont une prévalence moyenne de l’ordre de 1 pour 10 000 naissances et sont ubiquitaires. Le dermatologue est en première ligne pour le diagnostic pendant l’enfance ou l’adolescence. Il peut formuler un conseil génétique et initier un suivi multidisciplinaire pour le dépistage des complications viscérales qui font la gravité de ces affections. En effet, outre le préjudice esthétique, celles-ci engagent le pronostic fonctionnel (visuel, ostéo-articulaire) ou vital (ischémies, ruptures vasculaires ou viscérales).
La compréhension de la chimie et la biochimie des tissus conjonctifs est incomplète , mais elle permet d’expliquer les manifestations cliniques des troubles héréditaire du tissu conjonctif comme par exemple la caractère systémique des ces maladies et les difficultés thérapeutique qui en déroulent.
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104
RESUME
Titre : Les troubles héréditaires du tissu conjonctif Auteur : ABDERRAHMANE MANSOURI
Directrice de thèse: Professeur JABOUIRIK FATIMA
Mots clés : Tissu conjonctif – mutation génétique – Traitement symptomatique - chirurgie plastique.
Les troubles héréditaires du tissu conjonctif est un ensemble d’affections à manifestations clinique polymorphe . Il existe plus plusieurs maladies qui impliquent le tissu conjonctif. Les maladies héréditaires du tissu conjonctif se manifestent, en général, dès l’enfance, et persistent toute la vie.
Ces affections sont secondaire à des anomalies héréditaires portant sur les différents éléments constitutifs du tissu conjonctif : soit les fibres du collagène ou les fibres élastiques .
Ces syndromes sont maintenant nettement mieux compris sur le plan étiopathogénique et peuvent désormais être classés en fonction des mécanismes en cause.
Bien que le diagnostic des ces affections est essentiellement clinique, la radiologie, la biopsie, la biologie ainsi le conseil génétique sont utiles au diagnostic
Le dermatologue est en première ligne pour le diagnostic pendant l’enfance ou l’adolescence. Il peut formuler un conseil génétique et initier un suivi multidisciplinaire pour le dépistage des complications viscérales qui font la gravité de ces affections. En effet, outre le préjudice esthétique, celles-ci engagent le pronostic fonctionnel (visuel, ostéo-articulaire) ou vital (ischémies, ruptures vasculaires ou viscérales).
Le traitement reste toujours symptomatique avec amélioration de l’état fonctionnel en attendant que les avancées étiopathogéniques soient plus spécifiques.
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ABSTRACT
Title: Hereditary Connective Tissue Disorders Author: ABDERRAHMANE MANSOURI Thesis director: Professor JABOUIRIK Fatima
Key words: Connective tissue - genetic mutation - Symptomatic treatment - plastic surgery
The hereditary disorders connective tissue is set of disorders with polymorphic clinical manifestations. There are more diseases that involve the connective tissue. The hereditary diseases of the connective tissue are usually manifested in infancy and persist throughout life. Affections due to hereditary abnormalities concerning the various constituent elements of the connective tissue: either collagen fibers or elastic fibers.
These syndromes are now clearly better understood etiopathetically and can now be classified according to the mechanisms involved. Although the diagnosis of these conditions is essentially clinical, radiology, biopsy, biology and genetic counseling are useful for the diagnosis.
The dermatologist is at the forefront of diagnosis during childhood or adolescence. He can formulate a genetic counseling and initiate a multidisciplinary follow-up for the detection of the visceral complications which make the severity of these affections. Indeed, in addition to aesthetic damage, these involve the functional prognosis (visual, osteoarticular) or vital (ischemia, vascular or visceral rupture).
The treatment is always symptomatic with improvement of the functional state until the etiopathogenic advances are more specific.
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صخلم
ناونعلا
:
تابارطضا
ةجسنلأا
ةماضلا
ةيثارولا
فلؤملا
:
دبع
محرلا
ا
ن
يروصنم
ريدم
ةحورطلأا
:
روسيفوربلا
باج
يرو
ك
ةمطاف
تاملكلا
ةيحاتفملا
:
جيسنلا
ماضلا
-ةرفطلا
ةيثارولا
-جلاع
ضارعلأا
-ةحارجلا
ةيليمجتلا
رﻫﺎظﻤﻝا ﻊﻤ تﺎﺒارطﻀﻻا نﻤ ﺔﻋوﻤﺠﻤ وﻫ مﺎﻀﻝا ﺞﻴﺴﻨﻝا ﺔﻴﺜاروﻝا تﺎﺒارطﻀﻻا
لﺎﻜﺸﻷا ةددﻌﺘﻤ ﺔﻴرﻴرﺴﻝا
.
كﺎﻨﻫ
مﺎﻀﻝا ﺞﻴﺴﻨﻝا ﻰﻠﻋ يوطﻨﺘ ﻲﺘﻝا ضارﻤﻷا نﻤ دﻴزﻤﻝا
.
ﻲﻓ ﺔﻤﺎﻀﻝا ﺔﺠﺴﻨﻸﻝ ﺔﻴﺜاروﻝا ضارﻤﻷا ﻰﻠﺠﺘﺘ ﺎﻤ ةدﺎﻋو
ةﺎﻴﺤﻝا لاوط رﻤﺘﺴﺘو ﺎﻫدﻬﻤ
.
تﻻﺎﺤﻝا
ﺔﻴﻀرﻤﻝا
ﺔﺠﺘﺎﻨﻝا
نﻋ
تﺎﻫوﺸﺘﻝا
ﺔﻴﺜاروﻝا
ﺔﻘﻠﻌﺘﻤﻝا
ﺔﻔﻠﺘﺨﻤﻝاﺔﻨوﻜﻤﻝارﺼﺎﻨﻌﻝﺎﺒ
ﺞﻴﺴﻨﻠﻝ
مﺎﻀﻝا
:
فﺎﻴﻝﻷا
ﺔﻴﻨﻴﺠﻻوﻜﻝا
فﺎﻴﻝﻷاوأ
ﺔﻨرﻤﻝا
.
ﺔﻴﻨﻌﻤﻝا تﺎﻴﻝﻶﻝ ﺎًﻘﻓو نﻵا ﺎﻬﻔﻴﻨﺼﺘ نﻜﻤﻴو ،لﻀﻓأ لﻜﺸﺒ ﺔﻤوﻬﻔﻤ تﺎﻤزﻼﺘﻤﻝا ﻩذﻫ نأ نﻵا ﺢﻀاوﻝا نﻤ
.
ءﺎﻴﺤﻷا مﻠﻋ ،ﺔﻋزﺨﻝا ،ﺔﻌﺸﻷا نأ ﻻإ ،ﻲﺴﺎﺴأ لﻜﺸﺒ ﺎًﻴرﻴرﺴ تﻻﺎﺤﻝا ﻩذﻫ صﻴﺨﺸﺘ نأ نﻤ مﻏرﻝا ﻰﻠﻋ
صﻴﺨﺸﺘﻠﻝ ةدﻴﻔﻤ ﺔﻴﺜاروﻝا تارﺎﺸﺘﺴﻻاو
.
بﻴﺒط
ﺔﻘﻫارﻤﻝا وأ ﺔﻝوﻔطﻝا ءﺎﻨﺜأ صﻴﺨﺸﺘﻝا ﺔﻌﻴﻠط ﻲﻓ وﻫ ﺔﻴدﻠﺠﻝا ضارﻤﻷا
.
ﺔﻴﺜاروﻝا ةرﺎﺸﺘﺴﻻا ﺔﻏﺎﻴﺼ ﻪﻨﻜﻤﻴ
رﻋﺎﺸﻤﻝا ﻩذﻫ ةدﺸ نﻤ لﻌﺠﺘ ﻲﺘﻝا ﺔﻴوﺸﺤﻝا تﺎﻔﻋﺎﻀﻤﻝا نﻋ فﺸﻜﻠﻝ تﺎﺼﺼﺨﺘﻝا ةددﻌﺘﻤ ﺔﻌﺒﺎﺘﻤ ﻲﻓ ءدﺒﻝاو
.
ﻲﻓ
ﻲﻔﻴظوﻝا صﻴﺨﺸﺘﻝا لﻤﺸﻴ اذﻫ نﺈﻓ ،ﻲﻝﺎﻤﺠﻝا فﻠﺘﻝا ﻰﻝإ ﺔﻓﺎﻀﻹﺎﺒ ،ﻊﻗاوﻝا
)
ﺒﻝا
ﻲﻠﺼﻔﻤﻝا ﻲﻤظﻌﻝا ، يرﺼ
(
وأ
يوﻴﺤﻝا
)
ﺔﻴوﺸﺤﻝا وأ ﺔﻴوﻤدﻝا ﺔﻴﻋوﻷا قزﻤﺘ ، ﺔﻴوﻤدﻝا ﺔﻴﻋوﻷا قزﻤﺘ
.(
اًدﻴدﺤﺘ رﺜﻜأ ضارﻤﻸﻝ ﺔﺒﺒﺴﻤﻝا تاروطﺘﻝا نوﻜﺘ ﻰﺘﺤ ﺔﻴﻔﻴظوﻝا ﺔﻝﺎﺤﻝا نﻴﺴﺤﺘ ﻊﻤ ضارﻋﻷا نﻤ ﺎًﻤﺌاد جﻼﻌﻝا نوﻜﻴ
.
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