Dermatologic Findings of Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome
Dermatologic Findings of Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome
复制标题
DOI：
10.1002/ajmg.a.32797
复制
发表时间：
2009-09-01
影响因子：
2
通讯作者：
Bree, Alanna F.
中科院分区：
文献类型：
--
作者：
Julapalli, Meena R.;Scher, Richard K.;Bree, Alanna F.
Hay-Wells综合征由p63基因突变引起，是一种常染色体显性外胚层发育不良，主要特征为丝状强直性睑球、外胚层缺陷和唇腭裂，该疾病的另一个名称AEC综合征由此而来。国家外胚层发育不良基金会于2006年11月8日至10日在德克萨斯州休斯顿的德克萨斯儿童医院/贝勒医学院召开了AEC综合征国际研究研讨会，并获得了相应的IRB批准。这次多学科会议是迄今为止此类患者最大的一次会议，使我们能够进一步表征AEC综合征的皮肤病学特征，包括：稀疏和铁丝状头发，指甲变化，过去或现在的头皮侵蚀，出汗减少，掌/足底变化和独特的色素异常。早期识别AEC综合征的特征和随后的早期诊断对于减少侵入性诊断研究，提高发病率和死亡率以及提供遗传咨询非常重要。皮肤糜烂，尤其是头皮糜烂，被认为是该综合征最具挑战性的皮肤方面。虽然皮肤糜烂和愈合不良的原因尚不清楚，但p63的突变可能导致能够补充被破坏屏障的基底细胞储存减少。目前正在探索的治疗策略包括基因治疗，以及表皮干细胞治疗。在此之前，温和的伤口护理和限制进一步的创伤似乎是最谨慎的治疗方式。(C) 2009 Wiley-Liss, Inc。
Hay-Wells syndrome, caused by mutations in the p63 gene, is an autosomal dominant ectodermal dysplasia with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and deft lip/palate, from which the disorder's other name, AEC syndrome, is derived. The National Foundation for Ectodermal Dysplasias convened the International Research Symposium for AEC Syndrome on November 8-10, 2006, at Texas Children's Hospital/Baylor College of Medicine, Houston, TX with appropriate IRB approval. This multidisciplinary conference was the largest gathering of such patients to date and allowed us to further characterize dermatologic features of AEC syndrome, which included: sparse and wiry hair, nail changes, past or present scalp erosions, decreased sweat production, palmar/plantar changes, and unique pigmentary anomolies. Early recognition of the features of AEC syndrome and subsequent early diagnosis is important in minimizing invasive diagnostic studies, improving morbidity and mortality, and providing genetic counseling. Skin erosions, especially those of the scalp, were identified as the most challenging cutaneous aspect of this syndrome. Although the reasons for the skin erosions and poor healing are not known, mutations of p63 may lead to a diminished store of basal cells capable of replenishing the disrupted barrier. Therapeutic strategies currently under exploration include gene therapy, as well as epidermal stem cell therapy. Until then, gentle wound care and limiting further trauma seem to be the most prudent treatment modalities. (C) 2009 Wiley-Liss, Inc.