Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a hereditary hair disorder characterized by sparse, short, and curly hair. Mutations in the Lipase H (LIPH) gene, LPAR6, or other genes cause this hereditary hair condition. We report a case of an 11-month-old Saudi boy who presented to our...
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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2025-05-01
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| Series: | Dermatology Reports |
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| Online Access: | https://www.pagepress.org/journals/dr/article/view/10177 |
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| author | Khalid Alwunais Jamal Alqahtani Abdullah Ali N Aljalfan Hadeel Alotaibi |
| author_facet | Khalid Alwunais Jamal Alqahtani Abdullah Ali N Aljalfan Hadeel Alotaibi |
| author_sort | Khalid Alwunais |
| collection | DOAJ |
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Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a hereditary hair disorder characterized by sparse, short, and curly hair. Mutations in the Lipase H (LIPH) gene, LPAR6, or other genes cause this hereditary hair condition. We report a case of an 11-month-old Saudi boy who presented to our dermatology clinic at King Fahad University Hospital in Al-Khobar (Saudi Arabia) with short, non-growing hair since birth. DNA sequencing revealed a homozygous mutation in the LIPH gene at c.280_369dup. Our patient was diagnosed with ARWH/H resulting from a homozygous mutation in LIPH.
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| format | Article |
| id | doaj-art-b9eb3a535dcd4535b550eaad163b4d0d |
| institution | OA Journals |
| issn | 2036-7392 2036-7406 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Dermatology Reports |
| spelling | doaj-art-b9eb3a535dcd4535b550eaad163b4d0d2025-08-20T02:35:32ZengPAGEPress PublicationsDermatology Reports2036-73922036-74062025-05-0110.4081/dr.2025.10177Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case reportKhalid Alwunais0Jamal Alqahtani1Abdullah Ali N Aljalfan2Hadeel Alotaibi3https://orcid.org/0000-0003-1150-9788Dermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University, DammamDermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University, DammamDermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University, DammamDermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a hereditary hair disorder characterized by sparse, short, and curly hair. Mutations in the Lipase H (LIPH) gene, LPAR6, or other genes cause this hereditary hair condition. We report a case of an 11-month-old Saudi boy who presented to our dermatology clinic at King Fahad University Hospital in Al-Khobar (Saudi Arabia) with short, non-growing hair since birth. DNA sequencing revealed a homozygous mutation in the LIPH gene at c.280_369dup. Our patient was diagnosed with ARWH/H resulting from a homozygous mutation in LIPH. https://www.pagepress.org/journals/dr/article/view/10177HypotrichosisLipase Hwoolly hairautosomal recessive |
| spellingShingle | Khalid Alwunais Jamal Alqahtani Abdullah Ali N Aljalfan Hadeel Alotaibi Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report Dermatology Reports Hypotrichosis Lipase H woolly hair autosomal recessive |
| title | Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report |
| title_full | Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report |
| title_fullStr | Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report |
| title_full_unstemmed | Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report |
| title_short | Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report |
| title_sort | autosomal recessive woolly hair hypotrichosis with homozygous mutation in the liph gene a case report |
| topic | Hypotrichosis Lipase H woolly hair autosomal recessive |
| url | https://www.pagepress.org/journals/dr/article/view/10177 |
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