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1.
Ann Dermatol Venereol ; 147(8-9): 520-524, 2020 Sep.
Artículo en Francés | MEDLINE | ID: mdl-32690319

RESUMEN

INTRODUCTION: X-linked hypo/anhidrotic ectodermal dysplasia (AED) is the most common form of AED. It is manifested in boys by involvement of the adnexa, teeth and sweat glands. In girls, signs are usually minor and may include linear lesions that are poorly known since they are reported infrequently or overlooked. Herein we report 3 cases. PATIENTS AND METHODS: There were two female patients who had been followed for several years, as well as the mother of one of the patients. Both of the younger patients had early diagnosis of DEA in childhood based on severe dental abnormalities, i.e. hypodontia and conical teeth, a typical facies, and cutaneous xerosis. The mother had milder signs and the diagnosis was made at the time of her daughter's diagnosis. All 3 had hypopigmented linear skin lesions (arms, buttocks or back), associated with a decrease in hair in one of them. Genetic analysis showed the R156H missense mutation at exon 3 of the EDA gene in all 3 patients. CONCLUSION: These hypopigmentation linear lesions, sometimes with hair loss, are well known to pediatric clinicians and dermatologists concerning early diagnosis of AED in girls, especially where the other signs are mild. Early diagnosis enables appropriate therapeutic management and genetic counseling regarding future pregnancy.


Asunto(s)
Displasia Ectodermal Anhidrótica Tipo 1/diagnóstico , Adolescente , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Adulto Joven
3.
JDR Clin Trans Res ; 8(4): 349-355, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-35993264

RESUMEN

KNOWLEDGE TRANSFER STATEMENT: The results of this study confirm the difficulties experienced by patients in the oral sphere. They also show that patients are able to adapt and that their demands go beyond functional rehabilitation. This work should encourage dental practitioners to be part of the overall management of the disease, involving regular checkups, preventive dental measures, and oral hygiene education. Therefore, more effective communication is required, not only between the dental and dermatological teams but also with the parents and caregivers.


Asunto(s)
Epidermólisis Ampollosa , Calidad de Vida , Humanos , Niño , Odontólogos , Rol Profesional , Epidermólisis Ampollosa/terapia , Percepción
4.
Rev Stomatol Chir Maxillofac Chir Orale ; 117(6): 388-402, 2016 Dec.
Artículo en Francés | MEDLINE | ID: mdl-27825665

RESUMEN

INTRODUCTION: Autogenous bone is commonly used in pre-implant bone reconstructions. Five harvesting sites are frequently used: mandibular symphysis and ramus, iliac crest, calvaria and tibia. One of the deciding criterions among these sites is the donor site morbidity. The purpose of our work was to analyze the intra- and postoperative complications that may occur on the different donor sites. MATERIAL AND METHODS: An automatic and manual search on Medline covering the period 1990-2015 was made. Human studies, in English or French language, detailing the complications linked to bone harvest done for pre-implant surgery were included. RESULTS: Eighty-three clinical trials or case reports were analyzed. Iliac crest, mandibular symphysis and ramus donor sites were afflicted with the highest pain scores and sensory disturbances. Iliac and tibial bone harvests were complicated by walk disturbances in the first weeks. Some rare neurological complications have been reported after calvarial bone harvest. DISCUSSION: Although commonly used, iliac crest bone harvest is responsible for significant morbidity. Calvarial harvest is related to the lowest morbidity. It has to be performed by an experienced team in order to reduce the risk of neurologic injury. Regarding intraoral donor sites, mandibular symphysis becomes less popular. Mandibular ramus harvest has the lowest complication rate and is well accepted by patients.


Asunto(s)
Trasplante Óseo , Complicaciones Intraoperatorias/etiología , Complicaciones Posoperatorias/etiología , Recolección de Tejidos y Órganos/efectos adversos , Trasplante Óseo/métodos , Humanos , Complicaciones Intraoperatorias/epidemiología , Morbilidad , Dolor Postoperatorio/epidemiología , Complicaciones Posoperatorias/epidemiología , Procedimientos de Cirugía Plástica/efectos adversos , Procedimientos de Cirugía Plástica/métodos , Cráneo/cirugía , Recolección de Tejidos y Órganos/métodos , Recolección de Tejidos y Órganos/estadística & datos numéricos , Trasplante Autólogo
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