A case report of a blueberry muffin baby caused by congenital self-healing indeterminate cell histiocytosis
Abstract Background Blueberry muffin is a descriptive term for a neonate with multiple purpuric skin lesions. Many causes are known, amongst them life-threatening diseases like congenital infections or leukemia. Indeterminate cell histiocytosis (ICH) is an exceptionally rare cause of blueberry muffi...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-03-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-023-03922-5 |
| _version_ | 1797863525687754752 |
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| author | S. B. L. Koster M. E. Vinke C. van den Bos W. J. M. van Heel M. E. G. Kranendonk R. Natté A. M. van Tuyll van Serooskerken |
| author_facet | S. B. L. Koster M. E. Vinke C. van den Bos W. J. M. van Heel M. E. G. Kranendonk R. Natté A. M. van Tuyll van Serooskerken |
| author_sort | S. B. L. Koster |
| collection | DOAJ |
| description | Abstract Background Blueberry muffin is a descriptive term for a neonate with multiple purpuric skin lesions. Many causes are known, amongst them life-threatening diseases like congenital infections or leukemia. Indeterminate cell histiocytosis (ICH) is an exceptionally rare cause of blueberry muffin rash. ICH is a histiocytic disorder which can be limited to the skin or can present with systemic involvement. A mutation that has been described in histiocytic disorders is a MAP2K1 mutation. In ICH, this mutation has previously been described in merely one case. Case presentation A term male neonate was admitted to the neonatology ward directly after birth because of a blueberry muffin rash. ICH was diagnosed on skin biopsy. The lesions resolved spontaneously. The patient is currently 3 years old and has had no cutaneous lesions or systemic involvement so far. This disease course is similar to that of the Hashimoto-Pritzker variant of LCH. Conclusions ICH can manifest in neonates as resolving skin lesions. It is limited to the skin in most cases, but systemic development is possible. Therefore, it is essential to confirm the diagnosis with a biopsy before the lesions resolve and to monitor these patients closely with routine follow-up. |
| first_indexed | 2024-04-09T22:36:54Z |
| format | Article |
| id | doaj.art-2e4fa69bba4e43eea1f46f305fdee5be |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-04-09T22:36:54Z |
| publishDate | 2023-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-2e4fa69bba4e43eea1f46f305fdee5be2023-03-22T12:24:05ZengBMCBMC Pediatrics1471-24312023-03-012311610.1186/s12887-023-03922-5A case report of a blueberry muffin baby caused by congenital self-healing indeterminate cell histiocytosisS. B. L. Koster0M. E. Vinke1C. van den Bos2W. J. M. van Heel3M. E. G. Kranendonk4R. Natté5A. M. van Tuyll van Serooskerken6Department of Dermatology, Erasmus Medisch CentrumDepartment of Hemato-oncology, Prinses Máxima CentrumDepartment of Hemato-oncology, Prinses Máxima CentrumDepartment of Pediatrics, HagaZiekenhuis/Juliana KinderziekenhuisDepartment of Pathology, Prinses Máxima CentrumDepartment of Pathology, HagaZiekenhuisDepartment of Dermatology, HagaZiekenhuisAbstract Background Blueberry muffin is a descriptive term for a neonate with multiple purpuric skin lesions. Many causes are known, amongst them life-threatening diseases like congenital infections or leukemia. Indeterminate cell histiocytosis (ICH) is an exceptionally rare cause of blueberry muffin rash. ICH is a histiocytic disorder which can be limited to the skin or can present with systemic involvement. A mutation that has been described in histiocytic disorders is a MAP2K1 mutation. In ICH, this mutation has previously been described in merely one case. Case presentation A term male neonate was admitted to the neonatology ward directly after birth because of a blueberry muffin rash. ICH was diagnosed on skin biopsy. The lesions resolved spontaneously. The patient is currently 3 years old and has had no cutaneous lesions or systemic involvement so far. This disease course is similar to that of the Hashimoto-Pritzker variant of LCH. Conclusions ICH can manifest in neonates as resolving skin lesions. It is limited to the skin in most cases, but systemic development is possible. Therefore, it is essential to confirm the diagnosis with a biopsy before the lesions resolve and to monitor these patients closely with routine follow-up.https://doi.org/10.1186/s12887-023-03922-5Blueberry muffin rashHashimoto-PritzkerIndeterminate cell histiocytosisMAP2K1 |
| spellingShingle | S. B. L. Koster M. E. Vinke C. van den Bos W. J. M. van Heel M. E. G. Kranendonk R. Natté A. M. van Tuyll van Serooskerken A case report of a blueberry muffin baby caused by congenital self-healing indeterminate cell histiocytosis BMC Pediatrics Blueberry muffin rash Hashimoto-Pritzker Indeterminate cell histiocytosis MAP2K1 |
| title | A case report of a blueberry muffin baby caused by congenital self-healing indeterminate cell histiocytosis |
| title_full | A case report of a blueberry muffin baby caused by congenital self-healing indeterminate cell histiocytosis |
| title_fullStr | A case report of a blueberry muffin baby caused by congenital self-healing indeterminate cell histiocytosis |
| title_full_unstemmed | A case report of a blueberry muffin baby caused by congenital self-healing indeterminate cell histiocytosis |
| title_short | A case report of a blueberry muffin baby caused by congenital self-healing indeterminate cell histiocytosis |
| title_sort | case report of a blueberry muffin baby caused by congenital self healing indeterminate cell histiocytosis |
| topic | Blueberry muffin rash Hashimoto-Pritzker Indeterminate cell histiocytosis MAP2K1 |
| url | https://doi.org/10.1186/s12887-023-03922-5 |
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