Literature DB >> 35221561

Scaling skin and failing heart: the cardio-cutaneous connection.

Ganapathy Subramaniam Krishnan1, Dhruva Sharma2, Neha Sharma3, Anitha Chandrashekhar1.   

Abstract

Ichthyosis refers to a comparatively rare group of skin disorders which may present with associated cardiomyopathy. We report a case of an 11-year-old female child who presented with ichthyosis and associated dilated cardiomyopathy. Genetic testing revealed mutation in the RBCK1 gene. She was successfully managed with heart transplantation. The purpose of the case report is to embark on the association between the skin and heart, the role of desmosomes, and the cutaneous manifestations of life-threatening cardiac disease. Cutaneous manifestations should not be escaped, as some of which could be a marker for sudden cardiac death and appropriate corrective actions can potentially save life. © Indian Association of Cardiovascular-Thoracic Surgeons 2021.

Entities:  

Keywords:  Cardiac transplantation; Desmosomes; Dilated cardiomyopathy; Ichthyosis

Year:  2022        PMID: 35221561      PMCID: PMC8857379          DOI: 10.1007/s12055-021-01262-6

Source DB:  PubMed          Journal:  Indian J Thorac Cardiovasc Surg        ISSN: 0970-9134


  10 in total

Review 1.  Hereditary and acquired ichthyosis vulgaris.

Authors:  Jason F Okulicz; Robert A Schwartz
Journal:  Int J Dermatol       Date:  2003-02       Impact factor: 2.736

2.  Systemic retinoids in the management of ichthyoses and related skin types.

Authors:  John J Digiovanna; Theodora Mauro; Leonard M Milstone; Matthias Schmuth; Jorge R Toro
Journal:  Dermatol Ther       Date:  2013 Jan-Feb       Impact factor: 2.851

3.  Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

Authors:  Johanna Nilsson; Benedikt Schoser; Pascal Laforet; Ognian Kalev; Christopher Lindberg; Norma B Romero; Marcela Dávila López; Hasan O Akman; Karim Wahbi; Stephan Iglseder; Christian Eggers; Andrew G Engel; Salvatore Dimauro; Anders Oldfors
Journal:  Ann Neurol       Date:  2013-12       Impact factor: 10.422

Review 4.  Ichthyosiform erythroderma and cardiomyopathy: report of two cases and review of the literature.

Authors:  P H Hoeger; S S Adwani; B F Whitehead; A Y Finlay; J I Harper
Journal:  Br J Dermatol       Date:  1998-12       Impact factor: 9.302

Review 5.  Structure, function, and regulation of desmosomes.

Authors:  Andrew P Kowalczyk; Kathleen J Green
Journal:  Prog Mol Biol Transl Sci       Date:  2013       Impact factor: 3.622

6.  Timeline and distribution of melanocyte precursors in the mouse heart.

Authors:  Flavia Carneiro Brito; Lidia Kos
Journal:  Pigment Cell Melanoma Res       Date:  2008-04-26       Impact factor: 4.693

7.  Heart transplantation for dilated cardiomyopathy.

Authors:  S S Adwani; B F Whitehead; P G Rees; P Whitmore; J W Fabre; M J Elliott; M R de Leval
Journal:  Arch Dis Child       Date:  1995-11       Impact factor: 3.791

Review 8.  Recent advances in understanding ichthyosis pathogenesis.

Authors:  Nareh V Marukian; Keith A Choate
Journal:  F1000Res       Date:  2016-06-24

9.  Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

Authors:  Martin Krenn; Elisabeth Salzer; Ingrid Simonitsch-Klupp; Jakob Rath; Matias Wagner; Tobias B Haack; Tim M Strom; Anne Schänzer; Manfred W Kilimann; Ralf L J Schmidt; Klaus G Schmetterer; Alexander Zimprich; Kaan Boztug; Andreas Hahn; Fritz Zimprich
Journal:  J Neurol       Date:  2017-12-19       Impact factor: 4.849

10.  Prevalence and risk factors of vitamin D deficiency in inherited ichthyosis: a French prospective observational study performed in a reference center.

Authors:  Flora Frascari; Isabelle Dreyfus; Lauriane Rodriguez; Isabelle Gennero; Khaled Ezzedine; Jean-Pierre Salles; Juliette Mazereeuw-Hautier
Journal:  Orphanet J Rare Dis       Date:  2014-08-05       Impact factor: 4.123

  10 in total
  1 in total

Review 1.  Non-lysine ubiquitylation: Doing things differently.

Authors:  Ian R Kelsall
Journal:  Front Mol Biosci       Date:  2022-09-19
  1 in total

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