Harlequin ichthyosis: A case report and literature review
Abstract Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diag...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-12-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6709 |
| _version_ | 1828062642124619776 |
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| author | Abhigan Babu Shrestha Prince Biswas Sajina Shrestha Romana Riyaz Muhammad Hassnain Nawaz Shumneva Shrestha Labiba Hossainy |
| author_facet | Abhigan Babu Shrestha Prince Biswas Sajina Shrestha Romana Riyaz Muhammad Hassnain Nawaz Shumneva Shrestha Labiba Hossainy |
| author_sort | Abhigan Babu Shrestha |
| collection | DOAJ |
| description | Abstract Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but ultrasonography in places was not available. |
| first_indexed | 2024-04-10T22:31:45Z |
| format | Article |
| id | doaj.art-49e823d58a7c4c4fbc0928e915d73088 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-10T22:31:45Z |
| publishDate | 2022-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-49e823d58a7c4c4fbc0928e915d730882023-01-17T04:40:56ZengWileyClinical Case Reports2050-09042022-12-011012n/an/a10.1002/ccr3.6709Harlequin ichthyosis: A case report and literature reviewAbhigan Babu Shrestha0Prince Biswas1Sajina Shrestha2Romana Riyaz3Muhammad Hassnain Nawaz4Shumneva Shrestha5Labiba Hossainy6M Abdur Rahim Medical College Dinajpur BangladeshRajshahi Medical College Rajshahi BangladeshKIST Medical College Patan NepalShadan Institute of Medical Sciences and Research Hyderabad IndiaM Abdur Rahim Medical College Dinajpur BangladeshMaharajgunjMedical Campus, Institute of Medicine Tribhuvan University Kathmandu NepalDepartment of Pediatrics Shaheed Ziaur Rahman Medical College Hospital Bogra BangladeshAbstract Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but ultrasonography in places was not available.https://doi.org/10.1002/ccr3.6709ABCA12 mutationgenetic disorderharlequin ichthyosisichthyosis congenital |
| spellingShingle | Abhigan Babu Shrestha Prince Biswas Sajina Shrestha Romana Riyaz Muhammad Hassnain Nawaz Shumneva Shrestha Labiba Hossainy Harlequin ichthyosis: A case report and literature review Clinical Case Reports ABCA12 mutation genetic disorder harlequin ichthyosis ichthyosis congenital |
| title | Harlequin ichthyosis: A case report and literature review |
| title_full | Harlequin ichthyosis: A case report and literature review |
| title_fullStr | Harlequin ichthyosis: A case report and literature review |
| title_full_unstemmed | Harlequin ichthyosis: A case report and literature review |
| title_short | Harlequin ichthyosis: A case report and literature review |
| title_sort | harlequin ichthyosis a case report and literature review |
| topic | ABCA12 mutation genetic disorder harlequin ichthyosis ichthyosis congenital |
| url | https://doi.org/10.1002/ccr3.6709 |
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