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A Case of Psoriatic Disease and Hidradenitis Suppurativa in a Child with Chromosome 17q21.31 Microduplication Syndrome

Psoriatic disease is a chronic, relapsing inflammatory disorder, characterized mostly by cutaneous erythematous scaly plaques sometimes associated with arthritis. Hidradenitis suppurativa (HS) is a chronic relapsing inflammatory disease of the apocrine glands, characterized clinically by painful abs...

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Autores principales: Tolino, Ersilia, Skroza, Nevena, Del Giudice, Emanuela, Maddalena, Patrizia, Bernardini, Nicoletta, Proietti, Ilaria, Mambrin, Alessandra, Marraffa, Federica, Rossi, Giovanni, Lubrano, Riccardo, Potenza, Concetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297257/
https://www.ncbi.nlm.nih.gov/pubmed/37371163
http://dx.doi.org/10.3390/children10060931
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author Tolino, Ersilia
Skroza, Nevena
Del Giudice, Emanuela
Maddalena, Patrizia
Bernardini, Nicoletta
Proietti, Ilaria
Mambrin, Alessandra
Marraffa, Federica
Rossi, Giovanni
Lubrano, Riccardo
Potenza, Concetta
author_facet Tolino, Ersilia
Skroza, Nevena
Del Giudice, Emanuela
Maddalena, Patrizia
Bernardini, Nicoletta
Proietti, Ilaria
Mambrin, Alessandra
Marraffa, Federica
Rossi, Giovanni
Lubrano, Riccardo
Potenza, Concetta
author_sort Tolino, Ersilia
collection PubMed
description Psoriatic disease is a chronic, relapsing inflammatory disorder, characterized mostly by cutaneous erythematous scaly plaques sometimes associated with arthritis. Hidradenitis suppurativa (HS) is a chronic relapsing inflammatory disease of the apocrine glands, characterized clinically by painful abscesses, sinus tracts and scars. It typically occurs after puberty, affecting mainly intertriginous areas of the body. There is a strong association between HS and psoriasis since they share the same pathogenic inflammatory pathway. The patient presented: low birthweight, microcephaly, facial dysmorphisms, lumbar hyperlordosis, walking difficulties, global psychomotor developmental delay and learning disabilities. A genetic evaluation revealed a 2.5 Mb de novo microduplication in the 17q21.31 chromosomal region. Dermatological examination revealed HS (Hurley stage II-HS) distributed in the genital area and inguinal folds, psoriatic plaques on the retroauricolar folds, on the elbows bilaterally and on the lateral aspect of the right ankle and psoriatic arthritis. The patient was treated with adalimumab, with a marked improvement of both conditions. To our best knowledge, we report the first case of coexisting Psoriatic Arthritis Disease and Hidradenitis Suppurativa in a child with chromosome 17q21.31 microduplication syndrome. We hypothesize that gene CRHR1 duplication included in the 17q21.31 chromosomal region might be involved in the pathogenesis of both diseases.
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spelling pubmed-102972572023-06-28 A Case of Psoriatic Disease and Hidradenitis Suppurativa in a Child with Chromosome 17q21.31 Microduplication Syndrome Tolino, Ersilia Skroza, Nevena Del Giudice, Emanuela Maddalena, Patrizia Bernardini, Nicoletta Proietti, Ilaria Mambrin, Alessandra Marraffa, Federica Rossi, Giovanni Lubrano, Riccardo Potenza, Concetta Children (Basel) Case Report Psoriatic disease is a chronic, relapsing inflammatory disorder, characterized mostly by cutaneous erythematous scaly plaques sometimes associated with arthritis. Hidradenitis suppurativa (HS) is a chronic relapsing inflammatory disease of the apocrine glands, characterized clinically by painful abscesses, sinus tracts and scars. It typically occurs after puberty, affecting mainly intertriginous areas of the body. There is a strong association between HS and psoriasis since they share the same pathogenic inflammatory pathway. The patient presented: low birthweight, microcephaly, facial dysmorphisms, lumbar hyperlordosis, walking difficulties, global psychomotor developmental delay and learning disabilities. A genetic evaluation revealed a 2.5 Mb de novo microduplication in the 17q21.31 chromosomal region. Dermatological examination revealed HS (Hurley stage II-HS) distributed in the genital area and inguinal folds, psoriatic plaques on the retroauricolar folds, on the elbows bilaterally and on the lateral aspect of the right ankle and psoriatic arthritis. The patient was treated with adalimumab, with a marked improvement of both conditions. To our best knowledge, we report the first case of coexisting Psoriatic Arthritis Disease and Hidradenitis Suppurativa in a child with chromosome 17q21.31 microduplication syndrome. We hypothesize that gene CRHR1 duplication included in the 17q21.31 chromosomal region might be involved in the pathogenesis of both diseases. MDPI 2023-05-25 /pmc/articles/PMC10297257/ /pubmed/37371163 http://dx.doi.org/10.3390/children10060931 Text en © 2023 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 Case Report
Tolino, Ersilia
Skroza, Nevena
Del Giudice, Emanuela
Maddalena, Patrizia
Bernardini, Nicoletta
Proietti, Ilaria
Mambrin, Alessandra
Marraffa, Federica
Rossi, Giovanni
Lubrano, Riccardo
Potenza, Concetta
A Case of Psoriatic Disease and Hidradenitis Suppurativa in a Child with Chromosome 17q21.31 Microduplication Syndrome
title A Case of Psoriatic Disease and Hidradenitis Suppurativa in a Child with Chromosome 17q21.31 Microduplication Syndrome
title_full A Case of Psoriatic Disease and Hidradenitis Suppurativa in a Child with Chromosome 17q21.31 Microduplication Syndrome
title_fullStr A Case of Psoriatic Disease and Hidradenitis Suppurativa in a Child with Chromosome 17q21.31 Microduplication Syndrome
title_full_unstemmed A Case of Psoriatic Disease and Hidradenitis Suppurativa in a Child with Chromosome 17q21.31 Microduplication Syndrome
title_short A Case of Psoriatic Disease and Hidradenitis Suppurativa in a Child with Chromosome 17q21.31 Microduplication Syndrome
title_sort case of psoriatic disease and hidradenitis suppurativa in a child with chromosome 17q21.31 microduplication syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297257/
https://www.ncbi.nlm.nih.gov/pubmed/37371163
http://dx.doi.org/10.3390/children10060931
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