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Langerhans cell histiocytosis presenting as blueberry muffin baby
Matthew P Shaffer1, Hobart W Walling, Mary Seabury Stone
1Department of Dermatology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Abstract:
Blueberry muffin baby is a descriptive term for purpuric lesions reflective of extramedullary hematopoeisis. The clinical lesions most commonly result from intrauterine infections, such as rubella and cytomegalovirus, and less commonly with malignancy and hematologic disorders. Langerhans cell histiocytosis is a clonal proliferation of dendritic histiocytes in the skin. This has very rarely been associated with a blueberry muffin presentation. We report the case of a newborn with typical lesions of cutaneous hematopoiesis and lytic bone lesions related to Langerhans cell histiocytosis. At birth, approximately 40 2 mm to 5 mm purpuric, nonblanching macules were scattered on the trunk, extremities, and soles of our patient. Laboratory studies were unremarkable and cultures were negative. Skin biopsy showed a dermal proliferation of histiocytes staining positive for S100 and Cd1a. Pediatric bone surveys, chest radiographs, and computed tomography scans of the head were normal. Six months later, the skin lesions had resolved, but radiographs revealed lytic bone lesions of the right tibia, right ilium, and left pubic ramus, consistent with skeletal Langerhans cell histiocytosis.
Insights
Blueberry muffin lesions in a newborn, typically from infections, were linked to Langerhans cell histiocytosis. This rare presentation highlights the importance of considering this condition in infants with purpuric skin findings.
Area of Science:
- Pediatric Dermatology
- Hematology
- Oncology
Background:
- Blueberry muffin lesions describe purpuric skin manifestations of extramedullary hematopoiesis.
- These lesions are commonly associated with intrauterine infections but can also indicate malignancy or hematologic disorders.
- Langerhans cell histiocytosis (LCH) is a rare clonal proliferation of dendritic histiocytes, infrequently presenting with blueberry muffin lesions.
Purpose of the Study:
- To report a rare case of a newborn presenting with blueberry muffin lesions and subsequent diagnosis of Langerhans cell histiocytosis.
- To highlight the association between cutaneous hematopoiesis and LCH in infancy.
- To emphasize the diagnostic considerations for neonatal purpuric rashes.
Main Methods:
- Clinical observation of a newborn with widespread purpuric macules.
- Dermatopathology: Skin biopsy revealing histiocyte proliferation positive for S100 and Cd1a.
- Radiological evaluation: Bone surveys and imaging to assess for skeletal involvement.
Main Results:
- The newborn exhibited approximately 40 purpuric, nonblanching macules at birth.
- Skin biopsy confirmed a dermal proliferation of histiocytes consistent with LCH.
- While initial bone surveys were normal, follow-up radiographs at six months revealed lytic bone lesions in the tibia, ilium, and pubic ramus, indicative of skeletal LCH.
Conclusions:
- This case illustrates a rare presentation of Langerhans cell histiocytosis mimicking typical blueberry muffin lesions.
- The resolution of skin lesions followed by the development of lytic bone lesions underscores the systemic nature of LCH.
- Early recognition and comprehensive evaluation are crucial for diagnosing LCH in neonates presenting with unusual cutaneous findings.