Different Clinical Phenotypes in Adams-Oliver Syndrome Conservative Approach to Aplasia Cutis: A Report of Two Cases

作     者：Francesca Dini Cristina Tuoni Andrea Nannipieri Sara Lunardi Rosa Teresa Scaramuzzo Laura D’Accavio B. Kuppers A. Valetto A. Bartalena Antonio Boldrini Paolo Ghirri 

作者机构：Cytogenetics and Molecular Genetics Unit University Hospital of Pisa Pisa Italy Dermatology Unit University Hospital of Pisa Pisa Italy Neonatology Unit Mother and Child Department University Hospital of Pisa Pisa Italy Scuola Superiore Sant’Anna Pisa Italy Section of Neonatal Endocrinology and Dysmorphology University Hospital of Pisa Pisa Italy. 

出 版 物：《International Journal of Clinical Medicine》 (临床医学国际期刊（英文）)

年 卷 期：2012年第3卷第3期

页      面：215-219页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：Adams-Oliver Syndrome Aplasia Cutis Congenita Scalp and Skull Defects Dermal Regeneration Template 

摘      要：Adams-Oliver Syndrome (AOS) is a rare genetic disease characterized by combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD), often accompanied by defects in scalp and skull ossification. Different clinical phenotypes may be related to variable severity both of aplasia cutis and TTLD, and of minor clinical features as cutis marmorata telangiectatica congenita (CMTC), congenital cardiac defect and vascular anomalies. The treatment is multidisciplinary: dermatologic, orthopedic and surgical consult should be required. It still remains unclear how to treat patients with a large skin defect that can‘t be closed primarly and may require both surgical and conservative management. We report two cases of AOS with typical limb defects and an area of aplasia cutis over vertex of the scalp managed conservatively with two different dermatologic devices.