Netherton Syndrome, a Rare Genetic Disorder—Case Report
Netherton syndrome is a rare genetic disorder inherited in an autosomal recessive pattern. Mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene are responsible for this disorder. Netherton syndrome can have multisystemic effects primarily involving the hair, skin and immune system....
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Dr. Sulaiman Al Habib Medical Journal |
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| Online Access: | https://journals.lww.com/10.1007/s44229-023-00026-1 |
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| _version_ | 1849769704706539520 |
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| author | Yahya Almalki Faisal Khan Ammara Naeem Muhammad Hasan Alabdulghany |
| author_facet | Yahya Almalki Faisal Khan Ammara Naeem Muhammad Hasan Alabdulghany |
| author_sort | Yahya Almalki |
| collection | DOAJ |
| description | Netherton syndrome is a rare genetic disorder inherited in an autosomal recessive pattern. Mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene are responsible for this disorder. Netherton syndrome can have multisystemic effects primarily involving the hair, skin and immune system. Currently, no definitive treatment has been reported beyond supportive care. Herein, we report the case of a newborn delivered in our facility with erythematous skin with peeling rash, respiratory distress and suspected early onset sepsis. In the neonatal intensive care unit, the newborn was managed with continuous positive airway pressure support, initial antibiotics and supportive treatment. Diagnosis was established after a skin biopsy, hair sample showing a characteristic bamboo stick appearance and elevated immunoglobulin E levels. |
| format | Article |
| id | doaj-art-1f959e5ef935473c869110b9cd3dd9c9 |
| institution | DOAJ |
| issn | 2666-819X 2590-3349 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Dr. Sulaiman Al Habib Medical Journal |
| spelling | doaj-art-1f959e5ef935473c869110b9cd3dd9c92025-08-20T03:03:20ZengWolters Kluwer Medknow PublicationsDr. Sulaiman Al Habib Medical Journal2666-819X2590-33492023-01-0151293210.1007/s44229-023-00026-1Netherton Syndrome, a Rare Genetic Disorder—Case ReportYahya AlmalkiFaisal KhanAmmara NaeemMuhammad Hasan AlabdulghanyNetherton syndrome is a rare genetic disorder inherited in an autosomal recessive pattern. Mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene are responsible for this disorder. Netherton syndrome can have multisystemic effects primarily involving the hair, skin and immune system. Currently, no definitive treatment has been reported beyond supportive care. Herein, we report the case of a newborn delivered in our facility with erythematous skin with peeling rash, respiratory distress and suspected early onset sepsis. In the neonatal intensive care unit, the newborn was managed with continuous positive airway pressure support, initial antibiotics and supportive treatment. Diagnosis was established after a skin biopsy, hair sample showing a characteristic bamboo stick appearance and elevated immunoglobulin E levels.https://journals.lww.com/10.1007/s44229-023-00026-1netherton syndromebamboo stick hair |
| spellingShingle | Yahya Almalki Faisal Khan Ammara Naeem Muhammad Hasan Alabdulghany Netherton Syndrome, a Rare Genetic Disorder—Case Report Dr. Sulaiman Al Habib Medical Journal netherton syndrome bamboo stick hair |
| title | Netherton Syndrome, a Rare Genetic Disorder—Case Report |
| title_full | Netherton Syndrome, a Rare Genetic Disorder—Case Report |
| title_fullStr | Netherton Syndrome, a Rare Genetic Disorder—Case Report |
| title_full_unstemmed | Netherton Syndrome, a Rare Genetic Disorder—Case Report |
| title_short | Netherton Syndrome, a Rare Genetic Disorder—Case Report |
| title_sort | netherton syndrome a rare genetic disorder case report |
| topic | netherton syndrome bamboo stick hair |
| url | https://journals.lww.com/10.1007/s44229-023-00026-1 |
| work_keys_str_mv | AT yahyaalmalki nethertonsyndromeararegeneticdisordercasereport AT faisalkhan nethertonsyndromeararegeneticdisordercasereport AT ammaranaeem nethertonsyndromeararegeneticdisordercasereport AT muhammadhasanalabdulghany nethertonsyndromeararegeneticdisordercasereport |