Poikiloderma with neutropenia: a case report
Abstract Background Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutrop...
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| Format: | Article |
| Language: | English |
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BMC
2025-01-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-025-05027-2 |
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| author | Jebran Chekr Jan Andraws Jubran Elias Diana Alasmar |
| author_facet | Jebran Chekr Jan Andraws Jubran Elias Diana Alasmar |
| author_sort | Jebran Chekr |
| collection | DOAJ |
| description | Abstract Background Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia. Case presentation Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria. Clinical examinations, laboratory tests, radiographic imaging, and genetic analyses have been conducted, with the latter being essential and definitive for diagnosis. Conclusion This study aimed to evaluate whether poikiloderma with neutropenia should be considered for differential diagnosis because of its diagnostic complexity, emphasizing the importance of follow-up for the early identification of potential complications. |
| format | Article |
| id | doaj-art-6a05c300e1b140d2837346319bf4b440 |
| institution | Kabale University |
| issn | 1752-1947 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-6a05c300e1b140d2837346319bf4b4402025-01-19T12:25:08ZengBMCJournal of Medical Case Reports1752-19472025-01-011911510.1186/s13256-025-05027-2Poikiloderma with neutropenia: a case reportJebran Chekr0Jan Andraws1Jubran Elias2Diana Alasmar3Faculty of Medicine, Damascus UniversityFaculty of Medicine, Damascus UniversityFaculty of Medicine, Damascus UniversityDepartment of Pediatrics, University Children Hospital, Damascus UniversityAbstract Background Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia. Case presentation Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria. Clinical examinations, laboratory tests, radiographic imaging, and genetic analyses have been conducted, with the latter being essential and definitive for diagnosis. Conclusion This study aimed to evaluate whether poikiloderma with neutropenia should be considered for differential diagnosis because of its diagnostic complexity, emphasizing the importance of follow-up for the early identification of potential complications.https://doi.org/10.1186/s13256-025-05027-2Poikiloderma with neutropeniaC16orf57SyriaUsb1GeneMutation |
| spellingShingle | Jebran Chekr Jan Andraws Jubran Elias Diana Alasmar Poikiloderma with neutropenia: a case report Journal of Medical Case Reports Poikiloderma with neutropenia C16orf57 Syria Usb1 Gene Mutation |
| title | Poikiloderma with neutropenia: a case report |
| title_full | Poikiloderma with neutropenia: a case report |
| title_fullStr | Poikiloderma with neutropenia: a case report |
| title_full_unstemmed | Poikiloderma with neutropenia: a case report |
| title_short | Poikiloderma with neutropenia: a case report |
| title_sort | poikiloderma with neutropenia a case report |
| topic | Poikiloderma with neutropenia C16orf57 Syria Usb1 Gene Mutation |
| url | https://doi.org/10.1186/s13256-025-05027-2 |
| work_keys_str_mv | AT jebranchekr poikilodermawithneutropeniaacasereport AT janandraws poikilodermawithneutropeniaacasereport AT jubranelias poikilodermawithneutropeniaacasereport AT dianaalasmar poikilodermawithneutropeniaacasereport |