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[Two familial cases of hereditary multiple exostoses]
P Géher1, K Csauth, N P Kaposi
1C Reumatológiai Osztály, Országos Reumatológiai és Fizioterápiás Intézet, Budapest.
Insights
Hereditary multiple exostoses (HME) is a genetic disorder. Regular monitoring is crucial due to the potential for malignant transformation in HME patients.
Area of Science:
- Genetics
- Oncology
- Radiology
Background:
- Hereditary multiple exostoses (HME) is an autosomal dominant genetic disorder.
- It is characterized by the development of multiple bony outgrowths (exostoses).
- Genetic heterogeneity is observed, with three different chromosomal loci implicated.
Observation:
- A three-generation family with HME was studied.
- Conventional X-ray confirmed the diagnosis in affected individuals.
- One patient experienced minor complaints from the exostoses.
Findings:
- Bone scintigraphy revealed increased isotope uptake in a pelvic exostosis.
- Magnetic resonance (MR) imaging indicated malignant degeneration in the same region.
- Malignant transformation risk in HME ranges from 1% to 27%.
Implications:
- Regular patient check-ups are essential for early detection of potential malignancy.
- Advanced imaging like MR is valuable for assessing exostosis changes.
- Understanding HME's genetic basis and malignant potential aids in patient management.
Abstract:
Hereditary multiple exostoses is an autosomal dominant disorder. Three different chromosomal loci have been implicated in this genetically heterogeneous disease. The authors describe a family in which 3 generations were affected, there were data about the disease of an already died grandmother, the father and his daughter were investigated by conventional X-ray and the disease was proved. The disease caused only minor complaints. The exostosis of the father's pelvis showed increased isotope uptake during bone scintigraphic examination, the same region exhibited malignant degeneration on MR examination. Regular check-up of the patients is necessary because of the possibility to a malignant transformation in 1-27% of the cases.