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DOI: 10.1055/a-2764-3829
Pregnancy and Poikiloderma with Neutropenia
Authors
Abstract
Background
Poikiloderma with neutropenia is an autosomal recessive condition characterized by postinflammatory poikiloderma and chronic neutropenia. To date, there is no published literature reporting on the impact of pregnancy on this rare genetic disorder.
Case
This case highlights a successful pregnancy outcome in a 26-year-old gravida 1 para 0 female with poikiloderma with neutropenia. Her pregnancy was complicated by thrombocytopenia, low fetal fraction, and high-risk cell-free DNA result.
Discussion
The findings of low fetal fraction and high-risk aneuploidy were unexpected given normal neonatal outcome. It is not yet well understood whether these findings are related to the genetic condition itself or use of medications used to manage her condition.
Keywords
poikiloderma and neutropenia - poikiloderma and pregnancy - chronic neutropenia - congenital neutropenia - neutropenia and pregnancyPublication History
Received: 23 October 2025
Accepted: 04 December 2025
Accepted Manuscript online:
14 January 2026
Article published online:
22 January 2026
© 2026. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)
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