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.
Highlights
Adams-Oliver Syndrome (OMIM 100300) is a rare congenital disorder which includes congenital scalp and skull defects and terminal transverse limb malformations, but it may present a wide spectrum of physical anomalies [1]
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
Summary
Adams-Oliver Syndrome (OMIM 100300) is a rare congenital disorder which includes congenital scalp and skull defects and terminal transverse limb malformations, but it may present a wide spectrum of physical anomalies [1]. Major features are aplasia cutis congenita (frequently localized over vertex of the scalp with more or less important involvement of the underlying bone), terminal transverse limb defects (commonly bilateral but often asymmetric and usually consisting in terminal reduction defects of fingers and toes) and family history of AOS. Minor features are cutis marmorata telangiectatica congenita (CMTC), congenital cardiac defect and vascular anomalies; this may be associated with a number of additional clinical defects including neurological abnormalities, growth retardation and skin tags. The mortality rate reported in the literature, mainly attributed to infection, meningitis or bleeding from the sagittal sinus, is about 20%. These two cases report are presented to describe two different methods of conservative managing of both small and large cutis aplasia
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