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      An Unexpected Airway Complication in a Male Patient with Goltz Syndrome

      case-report

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          Abstract

          Goltz syndrome, also known as focal dermal hypoplasia, is a rare X-linked dominant multisystem syndrome presenting with cutaneous, skeletal, dental ocular, central nervous system and soft tissue abnormalities. This case report discusses an adult male patient with Goltz syndrome that was noted to have large, papillomatous, hypopharyngeal lesions upon induction of general anesthesia. We highlight challenges with airway management intraoperatively and postoperatively in patients with Goltz syndrome. Our aim is to increase awareness of the potential airway complications associated with this genetic disorder and to provide suggestions for optimal perioperative management for patients afflicted with Goltz syndrome.

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          Most cited references10

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          Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.

          Goltz-Gorlin syndrome is a highly variable disorder affecting many body parts of meso-ectodermal origin. Mutations in X-linked PORCN have been identified in almost all patients with a classical Goltz-Gorlin phenotype. The pentalogy of Cantrell is an infrequently described congenital disorder characterized by the combination of five anomalies: a midline supra-umbilical abdominal wall defect; absent or cleft lower part of the sternum; deficiency of the diaphragmatic pericardium; deficiency of the anterior diaphragm; and congenital heart anomalies. Etiology and pathogenesis are unknown. We report on an infant with findings fitting both Goltz-Gorlin syndrome (sparse hair; anophthalmia; clefting; bifid nose; irregular vermillion of both lips; asymmetrical limb malformations; caudal appendage; linear aplastic skin defects; unilateral hearing loss) and the pentalogy of Cantrell (absent lower sternum; anterior diaphragmatic hernia; ectopia cordis; omphalocele). The clinical diagnosis Goltz-Gorlin syndrome was confirmed molecularly by a point mutation in PORCN (c.727C>T). The presence of molecularly confirmed Goltz-Gorlin syndrome and pentalogy of Cantrell in a single patient has been reported twice before. The present patient confirms that the pentalogy of Cantrell can be caused in some patients by a PORCN mutation. It remains at present uncertain whether this can be explained by the type or localization of the mutation within PORCN, or whether the co-occurrence of the two entities is additionally determined by mutations or polymorphisms in other genes, environmental factors, and/or epigenetic influences. Copyright © 2011 Wiley-Liss, Inc.
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            Focal dermal hypoplasia: updates.

            Focal dermal hypoplasia (FDH), or Goltz-Gorlin syndrome, is a rare syndrome and may result in multisystem disorders. Several reviews of FDH have been published. However, the last comprehensive review of this disorder appeared more than 20 years ago. To date, a number of new clinical manifestations have been reported and considerable knowledge has accumulated regarding etiology and pathogenetic mechanisms. The purpose of this review is to gather these more recent data and to provide organized and reliable information. So we reviewed 159 cases of FDH that had been reported from 1990 to 2012, summarized the new discoveries, and suggested a potential standard for the diagnosis of FDH. We also reported on a Chinese girl with FDH, who was clinically and histologically in accord with FDH, as an example.
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              A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient.

              We present the case of a boy with a clinical diagnosis of Goltz (focal dermal hypoplasia) syndrome. This is a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. It is inherited in an X-linked dominant fashion and is normally lethal in male patients. Mutations in the PORCN gene (Xp11.23), the proteins of which are key regulators in embryonic development, have been found to be responsible for the syndrome. Sequencing of the PORCN gene was negative in our patient. This case highlights some of the challenges of obtaining a molecular diagnosis in male patients with suspected Goltz syndrome in the clinical setting. © 2010 The Authors. Australasian Journal of Dermatology © 2010 The Australasian College of Dermatologists.
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                Author and article information

                Journal
                Case Rep Anesthesiol
                Case Rep Anesthesiol
                CRIA
                Case Reports in Anesthesiology
                Hindawi Publishing Corporation
                2090-6382
                2090-6390
                2016
                18 September 2016
                : 2016
                : 4659891
                Affiliations
                1Penn State Milton S. Hershey Medical Center, 500 University Drive, H187, Hershey, PA 17033, USA
                2Penn State Hershey Anesthesia, 500 University Drive, H187, Hershey, PA 17033, USA
                Author notes

                Academic Editor: Richard Riley

                Author information
                http://orcid.org/0000-0002-8384-0229
                Article
                10.1155/2016/4659891
                5046003
                27721997
                187aace9-3bf0-4932-9b11-e39a620c81b4
                Copyright © 2016 Sadie Smith et al.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 29 June 2016
                : 21 August 2016
                Categories
                Case Report

                Anesthesiology & Pain management
                Anesthesiology & Pain management

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