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...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-05-01
|
| Series: | Children |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9067/10/6/931 |
| _version_ | 1827737975724703744 |
|---|---|
| author | Ersilia Tolino Nevena Skroza Emanuela Del Giudice Patrizia Maddalena Nicoletta Bernardini Ilaria Proietti Alessandra Mambrin Federica Marraffa Giovanni Rossi Riccardo Lubrano Concetta Potenza |
| author_facet | Ersilia Tolino Nevena Skroza Emanuela Del Giudice Patrizia Maddalena Nicoletta Bernardini Ilaria Proietti Alessandra Mambrin Federica Marraffa Giovanni Rossi Riccardo Lubrano Concetta Potenza |
| author_sort | Ersilia Tolino |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-11T02:38:18Z |
| format | Article |
| id | doaj.art-dbabe755cac141b08a7001ce521de5bd |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-11T02:38:18Z |
| publishDate | 2023-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-dbabe755cac141b08a7001ce521de5bd2023-11-18T09:49:13ZengMDPI AGChildren2227-90672023-05-0110693110.3390/children10060931A Case of Psoriatic Disease and Hidradenitis Suppurativa in a Child with Chromosome 17q21.31 Microduplication SyndromeErsilia Tolino0Nevena Skroza1Emanuela Del Giudice2Patrizia Maddalena3Nicoletta Bernardini4Ilaria Proietti5Alessandra Mambrin6Federica Marraffa7Giovanni Rossi8Riccardo Lubrano9Concetta Potenza10Department of Medico-Surgical Sciences and Biotechnologies, Dermatology Unit “D. Innocenzi”, Sapienza University of Rome, Polo Pontino, Via Firenze, 1, 04019 Terracina, ItalyDepartment of Medico-Surgical Sciences and Biotechnologies, Dermatology Unit “D. Innocenzi”, Sapienza University of Rome, Polo Pontino, Via Firenze, 1, 04019 Terracina, ItalyMaternal and Child Health Department, Santa Maria Goretti Hospital, Sapienza University of Rome, Polo Pontino, 04100 Latina, ItalyDepartment of Medico-Surgical Sciences and Biotechnologies, Dermatology Unit “D. Innocenzi”, Sapienza University of Rome, Polo Pontino, Via Firenze, 1, 04019 Terracina, ItalyDepartment of Medico-Surgical Sciences and Biotechnologies, Dermatology Unit “D. Innocenzi”, Sapienza University of Rome, Polo Pontino, Via Firenze, 1, 04019 Terracina, ItalyDepartment of Medico-Surgical Sciences and Biotechnologies, Dermatology Unit “D. Innocenzi”, Sapienza University of Rome, Polo Pontino, Via Firenze, 1, 04019 Terracina, ItalyDepartment of Medico-Surgical Sciences and Biotechnologies, Dermatology Unit “D. Innocenzi”, Sapienza University of Rome, Polo Pontino, Via Firenze, 1, 04019 Terracina, ItalyDepartment of Medico-Surgical Sciences and Biotechnologies, Dermatology Unit “D. Innocenzi”, Sapienza University of Rome, Polo Pontino, Via Firenze, 1, 04019 Terracina, ItalyDepartment of Medico-Surgical Sciences and Biotechnologies, Dermatology Unit “D. Innocenzi”, Sapienza University of Rome, Polo Pontino, Via Firenze, 1, 04019 Terracina, ItalyMaternal and Child Health Department, Santa Maria Goretti Hospital, Sapienza University of Rome, Polo Pontino, 04100 Latina, ItalyDepartment of Medico-Surgical Sciences and Biotechnologies, Dermatology Unit “D. Innocenzi”, Sapienza University of Rome, Polo Pontino, Via Firenze, 1, 04019 Terracina, ItalyPsoriatic 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.https://www.mdpi.com/2227-9067/10/6/931psoriatic arthritishidradenitis suppurativa17q21.31 microduplication syndrome ù |
| spellingShingle | Ersilia Tolino Nevena Skroza Emanuela Del Giudice Patrizia Maddalena Nicoletta Bernardini Ilaria Proietti Alessandra Mambrin Federica Marraffa Giovanni Rossi Riccardo Lubrano Concetta Potenza A Case of Psoriatic Disease and Hidradenitis Suppurativa in a Child with Chromosome 17q21.31 Microduplication Syndrome Children psoriatic arthritis hidradenitis suppurativa 17q21.31 microduplication syndrome ù |
| 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 | psoriatic arthritis hidradenitis suppurativa 17q21.31 microduplication syndrome ù |
| url | https://www.mdpi.com/2227-9067/10/6/931 |
| work_keys_str_mv | AT ersiliatolino acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT nevenaskroza acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT emanueladelgiudice acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT patriziamaddalena acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT nicolettabernardini acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT ilariaproietti acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT alessandramambrin acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT federicamarraffa acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT giovannirossi acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT riccardolubrano acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT concettapotenza acaseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT ersiliatolino caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT nevenaskroza caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT emanueladelgiudice caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT patriziamaddalena caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT nicolettabernardini caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT ilariaproietti caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT alessandramambrin caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT federicamarraffa caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT giovannirossi caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT riccardolubrano caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome AT concettapotenza caseofpsoriaticdiseaseandhidradenitissuppurativainachildwithchromosome17q2131microduplicationsyndrome |