TITLE:
Different Clinical Phenotypes in Adams-Oliver Syndrome Conservative Approach to Aplasia Cutis: A Report of Two Cases
AUTHORS:
Francesca Dini, Cristina Tuoni, Andrea Nannipieri, Sara Lunardi, Rosa Teresa Scaramuzzo, Laura D’Accavio, B. Kuppers, A. Valetto, A. Bartalena, Antonio Boldrini, Paolo Ghirri
KEYWORDS:
Adams-Oliver Syndrome; Aplasia Cutis Congenita; Scalp and Skull Defects; Dermal Regeneration Template
JOURNAL NAME:
International Journal of Clinical Medicine,
Vol.3 No.3,
May
29,
2012
ABSTRACT: 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.