The Experts below are selected from a list of 387 Experts worldwide ranked by ideXlab platform
Richard C Trembath - One of the best experts on this subject based on the ideXlab platform.
-
the spectra of clinical phenotypes in Aplasia Cutis Congenita and terminal transverse limb defects
American Journal of Medical Genetics Part A, 2009Co-Authors: Katie Snape, Deborah Ruddy, Marti Zenke, Wim Wuyts, Margo L Whiteford, Diana Johnso, Wayne Lam, Richard C TrembathAbstract:The combination of Aplasia Cutis Congenita (ACC) and terminal transverse limb defects (TTLD) is often referred to as the eponymous Adams–Oliver syndrome (AOS). The molecular basis of this disorder remains unknown, although the common occurrence of cardiac and vascular anomalies suggests a primary defect of vasculogenesis. Through the description of three previously unreported affected individuals, ascertained through the Adams–Oliver Syndrome European Consortium, we illustrate the phenotypic variability characteristically observed within extended families with AOS. Taken in combination with a detailed review of the available literature, we provide evidence for distinct clinical entities within the ACC/TTLD spectrum, which may reflect genetic heterogeneity within this spectrum of disorders. © 2009 Wiley-Liss, Inc.
D S Morrell - One of the best experts on this subject based on the ideXlab platform.
-
A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome
Journal of Perinatology, 2009Co-Authors: A Burkhead, G Poindexter, D S MorrellAbstract:Aplasia Cutis Congenita (ACC) is a rare condition characterized by the absence of a portion of skin at birth. Skin defects are usually small (0.5 to 3 cm) and located on the scalp. Although there can be other physical or genetic abnormalities, ACC is most often a benign isolated condition. Rarely is an underlying bony defect present, and this association increases the rate of complications. We report a case of a newborn male with ACC of the entire crown and vertex scalp, non-ossified parietal skull and dysplastic corpus callosum. The patient's skull and skin defects were treated non-surgically, and he recovered well.
Bari B Cunningham - One of the best experts on this subject based on the ideXlab platform.
-
scalp syndrome sebaceous nevus syndrome cns malformations Aplasia Cutis Congenita limbal dermoid and pigmented nevus giant Congenital melanocytic nevus with neurocutaneous melanosis a distinct syndromic entity
Journal of The American Academy of Dermatology, 2008Co-Authors: Magdalene A Dohil, Lawrence F Eichenfield, Bari B CunninghamAbstract:Nevus sebaceus syndrome (SNS) is a constellation of nevus sebaceus with extracutaneous findings, including the ophthalmologic nervous, and musculoskeletal systems. Didymosis aplasticosebacea is a recently described entity consisting of Aplasia Cutis Congenita and nevus sebaceus, implying twin spotting (didymosis). We describe a neonate with a nevus sebaceus on the scalp and a limbal dermoid on her left eye. Contiguous with the nevus sebaceus was a giant Congenital melanocytic nevus and numerous areas of membranous Aplasia Cutis Congenita. We propose the acronym SCALP (nevus s ebaceus, c entral nervous system malformations, a plasia Cutis Congenita, l imbal dermoid, p igmented nevus) to summarize the unique features of this case and review the two similar cases in the literature.
J. Jfeifle - One of the best experts on this subject based on the ideXlab platform.
-
Multifocal Aplasia Cutis Congenita, distal limb hemimelia, and Cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome.
British Journal of Dermatology, 1992Co-Authors: Konrad Bork, J. JfeifleAbstract:Summary We describe an 18-month-old boy with multifocal scalp defects over the posterior parietal region combined with an underlying defect of the skull, left lower limb distal hemimelia and generalized Cutis marmorata telangiectatica, consistent with a diagnosis of Adams–Oliver syndrome (Aplasia Cutis Congenita with distal transverse limb defects).
P. Castan - One of the best experts on this subject based on the ideXlab platform.
-
Aplasia Cutis Congenita of the scalp with large underlying skull defect: a case report
Neuroradiology, 1994Co-Authors: N. Leboucq, P. Montoya Y Mártínez, F. Montoya-vigo, P. CastanAbstract:Localised agenesis of the scalp is the most frequent patern in Aplasia Cutis Congenita (ACC), a Congenital absence of the skin and occasionally of deeper layers. Several clinical groups are characterised by the location and pattern of skin defects, associated malformations and the mode of inheritance. Death occurs in 20% of cases, secondary to the associated anomalies, to infections or to haemorrhage from ulceration of the sagittal sinus when there is also a defect of the underlying skull. In this latter case, we close the defect by two rotational scalp flaps (Orticochea technique) at birth. A three-dimensional CT study is useful for showing the extent of the skull defect and the deformity of the craniofacial complex and the changes in the bone after treatment.