Managing syndromic congenital ichthyosis at a tertiary care institute-Genotype-phenotype correlations, and novel treatments.

Dermatologic Therapy
Garima DabasInusha Panigrahi

Abstract

Syndromic congenital ichthyoses (CI) are genetically determined disorders of cornification that are characterized by generalized scaling along with systemic symptoms. Data on congenital syndromic ichthyosis from developing countries are scarce. We aimed to assess the prevalence, phenotype-genotype correlation, and management of syndromic CI patients presenting to our outpatient during the specified period this was a retrospective study of congenital syndromic ichthyosis patients attending a dermatology clinic in a tertiary care center from 2105-2018. We reviewed epidemiological and comorbidities data, phenotype-genotype correlations, and treatments of syndromic congenital ichthyosis patients. Six patients of Syndromic CI were diagnosedamongst 86 patients of CI (8.1%). Amongst these, three patients of Sjogren-Larrson syndrome (SLS), two patients of Netherton syndrome (NS), and one of Chanarin-Dorfman disease (CDD) were reported. Next-generation sequencing (NGS) was performed with novel variants reported in one patient each of SLS, NS, and CDD. An atypical phenotype was observed in a patient with NS with associated growth hormone and adrenocorticotropic hormone deficiency but with favorable clinical response to intravenous immuno...Continue Reading

References

Mar 8, 1975·British Medical Journal·I ChanarinG Stewart
Jan 1, 1986·Journal of Cellular Biochemistry·H Neurath
Jan 1, 1995·The Journal of Allergy and Clinical Immunology·D L SmithR D deShazo
Feb 25, 2000·Journal of the American Academy of Dermatology·Y SugaH Ogawa
Aug 11, 2000·American Journal of Hematology·A S WolbergM Hoffman
Feb 14, 2002·The Journal of Investigative Dermatology·Emmanuelle BitounAlain Hovnanian
Jun 22, 2005·Archives of Dermatology·Nicolas SchleinitzJean-François Pelissier
Sep 27, 2005·The British Journal of Dermatology·R M PujolA Azon
Nov 26, 2005·The British Journal of Dermatology·T EgelrudH J Mägert
Dec 13, 2006·The Journal of Biological Chemistry·Carla A BorgoñoEleftherios P Diamandis
Aug 18, 2009·The Journal of Allergy and Clinical Immunology·Ellen D RennerHans D Ochs
May 18, 2011·Pediatric Dermatology·Smita SinghBincey Varghese
Jun 21, 2011·Molecular Genetics and Metabolism·Holly EngelstadWilliam B Rizzo
May 3, 2012·Photodermatology, Photoimmunology & Photomedicine·Edidiong Celestine Ntuen KaminskaSarah L Stein
Sep 11, 2013·Pediatric Dermatology·Banu Küçükemre AydınFeyza Darendeliler
Jan 8, 2014·Orphanet Journal of Rare Diseases·Isabelle DreyfusJuliette Mazereeuw-Hautier
Aug 23, 2016·Expert Opinion on Orphan Drugs·William B Rizzo
Apr 29, 2018·International Journal of Dermatology·Seçil VuralA Nazli Başak

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