Congenital Absence of the Nails: A Variant of Cooks Syndrome
Congenital anonychia is a rare condition which is characterized by the absence of multiple nails or the whole fingernails, toenails, or both. It occurs due to autosomal dominant or recessive inheritance. Normal skin at sites of missing nails and absence of distal phalanges on radiography are feature...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Indian Journal of Paediatric Dermatology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ijpd.ijpd_106_24 |
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| author | N. Rishana Murali Narasimhan Ramachandran Ramakrishnan A. K. Mohamed Abdullah |
| author_facet | N. Rishana Murali Narasimhan Ramachandran Ramakrishnan A. K. Mohamed Abdullah |
| author_sort | N. Rishana |
| collection | DOAJ |
| description | Congenital anonychia is a rare condition which is characterized by the absence of multiple nails or the whole fingernails, toenails, or both. It occurs due to autosomal dominant or recessive inheritance. Normal skin at sites of missing nails and absence of distal phalanges on radiography are features. We present a case of Cooks syndrome variant in a 9-month-old female child who had loss of toe nails and brachydactyly with typical radiological findings. |
| format | Article |
| id | doaj-art-9afbafe8e1c54c83af6a166b1f066f78 |
| institution | Kabale University |
| issn | 2319-7250 2319-7269 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Paediatric Dermatology |
| spelling | doaj-art-9afbafe8e1c54c83af6a166b1f066f782025-01-10T10:00:50ZengWolters Kluwer Medknow PublicationsIndian Journal of Paediatric Dermatology2319-72502319-72692024-12-0125430831010.4103/ijpd.ijpd_106_24Congenital Absence of the Nails: A Variant of Cooks SyndromeN. RishanaMurali NarasimhanRamachandran RamakrishnanA. K. Mohamed AbdullahCongenital anonychia is a rare condition which is characterized by the absence of multiple nails or the whole fingernails, toenails, or both. It occurs due to autosomal dominant or recessive inheritance. Normal skin at sites of missing nails and absence of distal phalanges on radiography are features. We present a case of Cooks syndrome variant in a 9-month-old female child who had loss of toe nails and brachydactyly with typical radiological findings.https://journals.lww.com/10.4103/ijpd.ijpd_106_24congenital anonychiacooks syndromesox9 gene |
| spellingShingle | N. Rishana Murali Narasimhan Ramachandran Ramakrishnan A. K. Mohamed Abdullah Congenital Absence of the Nails: A Variant of Cooks Syndrome Indian Journal of Paediatric Dermatology congenital anonychia cooks syndrome sox9 gene |
| title | Congenital Absence of the Nails: A Variant of Cooks Syndrome |
| title_full | Congenital Absence of the Nails: A Variant of Cooks Syndrome |
| title_fullStr | Congenital Absence of the Nails: A Variant of Cooks Syndrome |
| title_full_unstemmed | Congenital Absence of the Nails: A Variant of Cooks Syndrome |
| title_short | Congenital Absence of the Nails: A Variant of Cooks Syndrome |
| title_sort | congenital absence of the nails a variant of cooks syndrome |
| topic | congenital anonychia cooks syndrome sox9 gene |
| url | https://journals.lww.com/10.4103/ijpd.ijpd_106_24 |
| work_keys_str_mv | AT nrishana congenitalabsenceofthenailsavariantofcookssyndrome AT muralinarasimhan congenitalabsenceofthenailsavariantofcookssyndrome AT ramachandranramakrishnan congenitalabsenceofthenailsavariantofcookssyndrome AT akmohamedabdullah congenitalabsenceofthenailsavariantofcookssyndrome |