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Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation

Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a late diagnosis of a proband initially diagnosed with West syndrome, later rev...

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Autores principales: Minić, Snežana, Trpinac, Dušan, Novaković, Ivana, Cerovac, Nataša, Dobrosavljević Vukojević, Danijela, Rosain, Jérémie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9318020/
https://www.ncbi.nlm.nih.gov/pubmed/35885615
http://dx.doi.org/10.3390/diagnostics12071711
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author Minić, Snežana
Trpinac, Dušan
Novaković, Ivana
Cerovac, Nataša
Dobrosavljević Vukojević, Danijela
Rosain, Jérémie
author_facet Minić, Snežana
Trpinac, Dušan
Novaković, Ivana
Cerovac, Nataša
Dobrosavljević Vukojević, Danijela
Rosain, Jérémie
author_sort Minić, Snežana
collection PubMed
description Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a late diagnosis of a proband initially diagnosed with West syndrome, later revealed to be caused by Incontinentia pigmenti (IP). Furthermore, 20 years later, it was discovered that the proband was also a carrier of a heterozygous GBA gene mutation. The methods used in diagnostics were as follows: IKBKG gene analysis, the X-chromosome inactivation assay, analyses of the genes relevant for neurodegeneration, WES analysis, analysis of biochemical parameters typical for Gaucher disease (GD), and autoantibodies including IFN-α2a and IFN-ω. To avoid overlooking IP and other possible rare disease diagnoses, carefully searching for dermatological signs in these conditions is recommended. It is important that the diagnostic criteria are based on quality and extensive data from multiple studies of each rare disease. Establishing precise diagnostic criteria for as many rare diseases as possible and establishing a publicly accessible database of rare diseases with a search possibility according to phenotypic abnormalities and genetic mutations would greatly facilitate and speed up the establishment of an accurate diagnosis.
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spelling pubmed-93180202022-07-27 Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation Minić, Snežana Trpinac, Dušan Novaković, Ivana Cerovac, Nataša Dobrosavljević Vukojević, Danijela Rosain, Jérémie Diagnostics (Basel) Article Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a late diagnosis of a proband initially diagnosed with West syndrome, later revealed to be caused by Incontinentia pigmenti (IP). Furthermore, 20 years later, it was discovered that the proband was also a carrier of a heterozygous GBA gene mutation. The methods used in diagnostics were as follows: IKBKG gene analysis, the X-chromosome inactivation assay, analyses of the genes relevant for neurodegeneration, WES analysis, analysis of biochemical parameters typical for Gaucher disease (GD), and autoantibodies including IFN-α2a and IFN-ω. To avoid overlooking IP and other possible rare disease diagnoses, carefully searching for dermatological signs in these conditions is recommended. It is important that the diagnostic criteria are based on quality and extensive data from multiple studies of each rare disease. Establishing precise diagnostic criteria for as many rare diseases as possible and establishing a publicly accessible database of rare diseases with a search possibility according to phenotypic abnormalities and genetic mutations would greatly facilitate and speed up the establishment of an accurate diagnosis. MDPI 2022-07-14 /pmc/articles/PMC9318020/ /pubmed/35885615 http://dx.doi.org/10.3390/diagnostics12071711 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Minić, Snežana
Trpinac, Dušan
Novaković, Ivana
Cerovac, Nataša
Dobrosavljević Vukojević, Danijela
Rosain, Jérémie
Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
title Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
title_full Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
title_fullStr Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
title_full_unstemmed Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
title_short Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
title_sort challenges in rare diseases diagnostics: incontinentia pigmenti with heterozygous gba mutation
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9318020/
https://www.ncbi.nlm.nih.gov/pubmed/35885615
http://dx.doi.org/10.3390/diagnostics12071711
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