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

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

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..

DOI: 10.4236/ijcm.2012.33042                

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.

Keywords

Adams-Oliver Syndrome; Aplasia Cutis Congenita; Scalp and Skull Defects; Dermal Regeneration Template

Conflicts of Interest

The authors declare no conflicts of interest.

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