Cargando…
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...
Autores principales: | , , , , , , , , , , |
---|---|
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 |
_version_ | 1785063840882360320 |
---|---|
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. |
format | Online Article Text |
id | pubmed-10297257 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT tolinoersilia acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT skrozanevena acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT delgiudiceemanuela acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT maddalenapatrizia acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT bernardininicoletta acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT proiettiilaria acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT mambrinalessandra acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT marraffafederica acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT rossigiovanni acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT lubranoriccardo acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT potenzaconcetta acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT tolinoersilia caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT skrozanevena caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT delgiudiceemanuela caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT maddalenapatrizia caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT bernardininicoletta caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT proiettiilaria caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT mambrinalessandra caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT marraffafederica caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT rossigiovanni caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT lubranoriccardo caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT potenzaconcetta caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome |