Harlequin Ichthyosis: A Case Report
ABSTRACT Harlequin ichthyosis (HI) is a genetic disorder caused by ABCA12 gene mutations, presenting with thick, scaly skin and deep fissures. Early recognition, intensive neonatal care, and multidisciplinary management are crucial for improving survival and quality of life. Treatment focuses on ski...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-07-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.70623 |
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| _version_ | 1849232719187279872 |
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| author | Shoaib Akhtar Adeel Anwaar Inam Ul Haq Hazaq Mukhtar Sabir Jamal Muhammad Muzammil Aymar Akilimali |
| author_facet | Shoaib Akhtar Adeel Anwaar Inam Ul Haq Hazaq Mukhtar Sabir Jamal Muhammad Muzammil Aymar Akilimali |
| author_sort | Shoaib Akhtar |
| collection | DOAJ |
| description | ABSTRACT Harlequin ichthyosis (HI) is a genetic disorder caused by ABCA12 gene mutations, presenting with thick, scaly skin and deep fissures. Early recognition, intensive neonatal care, and multidisciplinary management are crucial for improving survival and quality of life. Treatment focuses on skin hydration, infection prevention, and supportive care to manage symptoms effectively. |
| format | Article |
| id | doaj-art-c60b2c1db7794303955f21d15385b42e |
| institution | Kabale University |
| issn | 2050-0904 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-c60b2c1db7794303955f21d15385b42e2025-08-21T03:21:38ZengWileyClinical Case Reports2050-09042025-07-01137n/an/a10.1002/ccr3.70623Harlequin Ichthyosis: A Case ReportShoaib Akhtar0Adeel Anwaar1Inam Ul Haq2Hazaq Mukhtar3Sabir Jamal4Muhammad Muzammil5Aymar Akilimali6Rahbar Medical and Dental College Lahore PakistanPakistan Kidney and Liver Institute and Research Center Lahore Pakistan Lahore PakistanRashid Latif Medical and Dental College Lahore Pakistan Lahore PakistanRahbar Medical and Dental College Lahore PakistanRahbar Medical and Dental College Lahore PakistanRahbar Medical and Dental College Lahore PakistanDepartment of Research Medical Research Circle (MedReC) Goma Democratic Republic of CongoABSTRACT Harlequin ichthyosis (HI) is a genetic disorder caused by ABCA12 gene mutations, presenting with thick, scaly skin and deep fissures. Early recognition, intensive neonatal care, and multidisciplinary management are crucial for improving survival and quality of life. Treatment focuses on skin hydration, infection prevention, and supportive care to manage symptoms effectively.https://doi.org/10.1002/ccr3.70623ABCA12 genecase reportharlequin ichthyosis |
| spellingShingle | Shoaib Akhtar Adeel Anwaar Inam Ul Haq Hazaq Mukhtar Sabir Jamal Muhammad Muzammil Aymar Akilimali Harlequin Ichthyosis: A Case Report Clinical Case Reports ABCA12 gene case report harlequin ichthyosis |
| title | Harlequin Ichthyosis: A Case Report |
| title_full | Harlequin Ichthyosis: A Case Report |
| title_fullStr | Harlequin Ichthyosis: A Case Report |
| title_full_unstemmed | Harlequin Ichthyosis: A Case Report |
| title_short | Harlequin Ichthyosis: A Case Report |
| title_sort | harlequin ichthyosis a case report |
| topic | ABCA12 gene case report harlequin ichthyosis |
| url | https://doi.org/10.1002/ccr3.70623 |
| work_keys_str_mv | AT shoaibakhtar harlequinichthyosisacasereport AT adeelanwaar harlequinichthyosisacasereport AT inamulhaq harlequinichthyosisacasereport AT hazaqmukhtar harlequinichthyosisacasereport AT sabirjamal harlequinichthyosisacasereport AT muhammadmuzammil harlequinichthyosisacasereport AT aymarakilimali harlequinichthyosisacasereport |