Harlequin Ichthyosis: Case Report
Harlequin ichthyosis is a rare autosomal recessive congenital disease in which neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies. Although several complications related to the skin restriction may occ...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sociedade Portuguesa de Dermatologia e Venereologia
2019-03-01
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| Series: | Revista da Sociedade Portuguesa de Dermatologia e Venereologia |
| Subjects: | |
| Online Access: | https://revista.spdv.com.pt/index.php/spdv/article/view/984 |
| _version_ | 1818050129840570368 |
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| author | Patrícia A. Couto Marcela C. Pastore Jessica C. N. Araújo Cecilya M. Mota Caroline A. R. Chirano Valeria K. A. Ferreira Sidharta Q. Gadelha Elaine D. Melo Patricia C. B. de Melo Luciana M. Santos |
| author_facet | Patrícia A. Couto Marcela C. Pastore Jessica C. N. Araújo Cecilya M. Mota Caroline A. R. Chirano Valeria K. A. Ferreira Sidharta Q. Gadelha Elaine D. Melo Patricia C. B. de Melo Luciana M. Santos |
| author_sort | Patrícia A. Couto |
| collection | DOAJ |
| description | Harlequin ichthyosis is a rare autosomal recessive congenital disease in which neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies. Although several complications related to the skin restriction may occur, support in intensive care and early introduction of systemic retinoids, such as acitretin, have significantly contributed to patients' survival and improved prognosis. The purpose of this report is to present a rare case of harlequin ichthyosis and to discuss strategies for early diagnosis and first supportive care. |
| first_indexed | 2024-12-10T10:48:34Z |
| format | Article |
| id | doaj.art-cb80a0a46716480395a4f4a1418e0f6c |
| institution | Directory Open Access Journal |
| issn | 2182-2395 2182-2409 |
| language | English |
| last_indexed | 2024-12-10T10:48:34Z |
| publishDate | 2019-03-01 |
| publisher | Sociedade Portuguesa de Dermatologia e Venereologia |
| record_format | Article |
| series | Revista da Sociedade Portuguesa de Dermatologia e Venereologia |
| spelling | doaj.art-cb80a0a46716480395a4f4a1418e0f6c2022-12-22T01:52:06ZengSociedade Portuguesa de Dermatologia e VenereologiaRevista da Sociedade Portuguesa de Dermatologia e Venereologia2182-23952182-24092019-03-0177110.29021/spdv.77.1.984Harlequin Ichthyosis: Case ReportPatrícia A. Couto0Marcela C. Pastore1Jessica C. N. Araújo2Cecilya M. Mota3Caroline A. R. Chirano4Valeria K. A. Ferreira5Sidharta Q. Gadelha6Elaine D. Melo7Patricia C. B. de Melo8Luciana M. Santos9Hospital Universitário Getúlio Vargas, Manaus, BrazilHospital Universitário Getúlio Vargas, Manaus, BrazilHospital Universitário Getúlio Vargas, Manaus, BrazilHospital Universitário Getúlio Vargas, Manaus, Brazil1Hospital Universitário Getúlio Vargas, Manaus, BrazilHospital Universitário Getúlio Vargas, Manaus, BrazilAthoderma Clinic, Manaus, BrazilFundação de Dermatologia Tropical e Venereologia Alfredo da Matta, Manaus, BrazilHospital Universitário Getúlio Vargas, Manaus, Brazil1Hospital Universitário Getúlio Vargas, Manaus, BrazilHarlequin ichthyosis is a rare autosomal recessive congenital disease in which neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies. Although several complications related to the skin restriction may occur, support in intensive care and early introduction of systemic retinoids, such as acitretin, have significantly contributed to patients' survival and improved prognosis. The purpose of this report is to present a rare case of harlequin ichthyosis and to discuss strategies for early diagnosis and first supportive care.https://revista.spdv.com.pt/index.php/spdv/article/view/984ATP-Binding Cassette TransportersIchthyosisLamellarInfantNewborn |
| spellingShingle | Patrícia A. Couto Marcela C. Pastore Jessica C. N. Araújo Cecilya M. Mota Caroline A. R. Chirano Valeria K. A. Ferreira Sidharta Q. Gadelha Elaine D. Melo Patricia C. B. de Melo Luciana M. Santos Harlequin Ichthyosis: Case Report Revista da Sociedade Portuguesa de Dermatologia e Venereologia ATP-Binding Cassette Transporters Ichthyosis Lamellar Infant Newborn |
| title | Harlequin Ichthyosis: Case Report |
| title_full | Harlequin Ichthyosis: Case Report |
| title_fullStr | Harlequin Ichthyosis: Case Report |
| title_full_unstemmed | Harlequin Ichthyosis: Case Report |
| title_short | Harlequin Ichthyosis: Case Report |
| title_sort | harlequin ichthyosis case report |
| topic | ATP-Binding Cassette Transporters Ichthyosis Lamellar Infant Newborn |
| url | https://revista.spdv.com.pt/index.php/spdv/article/view/984 |
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