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Multiple, juxtasutural, cranial hyperostoses and cardiac tumor: a new hamartomatous syndrome?
1Department of Radiology, Dokkyo University School of Medicine, Tochigi, Shimotsuga-gun, Japan.
Insights
This study describes a rare case of cranial hyperostoses and a cardiac tumor in a Japanese girl, potentially representing a new hamartomatous syndrome. Further research is needed to identify the exact cause and characteristics of this unique condition.
Area of Science:
- Medical Genetics
- Pediatric Oncology
- Pathology
Background:
- Hamartomatous syndromes with craniofacial hyperostoses, such as Gardner and Proteus syndromes, present with complex multisystemic manifestations.
- Differentiating these syndromes is crucial for accurate diagnosis and management, especially when atypical presentations occur.
Observation:
- A Japanese girl presented with multiple cranial hyperostoses and a cardiac tumor in early childhood.
- Cranial findings included unique juxtasutural osseous protuberances and bony bumps, histologically resembling osteoma.
- Cardiac mass showed fatty elements on MRI, with its pathology remaining unknown.
Findings:
- The patient's presentation excluded known hamartomatous syndromes due to the absence of gnathic hyperostoses, ophthalmological, skin, or other visceral abnormalities.
- While superficially resembling X-linked calvarial hyperostosis, the absence of vacuolated histiocytes differentiated it.
- The disorder may represent a novel hamartomatous syndrome.
Implications:
- This case highlights the potential for previously undescribed genetic syndromes involving craniofacial and cardiac abnormalities.
- Further investigation is warranted to elucidate the etiology and pathogenesis of this unique condition.
- Accurate diagnosis and classification are essential for guiding clinical management and genetic counseling.
Abstract:
We report on a Japanese girl with multiple cranial hyperostoses and a cardiac tumor, both of which manifested in early childhood. Unique juxtasutural lesions characterized the cranial findings, including a chain of almost symmetrical osseous protuberances involving the frontozygomatic and frontoparietal junctions, and discrete bony bumps on the right occipitoparietal junction and left temporo-occipital junction. These lesions histologically consisted of thickened mature bone intervened with sparse fibrous tissues, mimicking osteoma. The cardiac mass remained pathologically unknown, but was shown to have fatty elements on magnetic resonance imaging (MRI). The patient showed no evidence of gnathic hyperostoses, ophthalmological abnormalities, skin lesions, or other visceral abnormalities, which ultimately precluded known hamartomatous syndromes with craniofacial hyperostoses, such as Gardner and Proteus syndromes. Yet regional Proteus syndrome could not be completely excluded. The craniofacial deformity as a sequel of hyperostoses in our patient superficially resembled that of X-linked calvarial hyperostosis; however, the vacuolated histiocytes that characterized the hyperostotic lesions were not found in our patient. The present disorder may represent a hitherto unknown hamartomatous syndrome.