Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey
| العنوان: | Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey |
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| المؤلفون: | Felix K Kohlrusch, Thorsten Rosenbaum, Jozef Zustin, Andreas M. Luebke, Christian Hagel, Reinhard E Friedrich, Martin Zenker, Ilse Wieland, Martin Gosau |
| المصدر: | In Vivo |
| بيانات النشر: | Anticancer Research USA Inc., 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Cancer Research, JAG1, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, General Biochemistry, Genetics and Molecular Biology, Germline mutation, Alagille syndrome, Humans, Medicine, Neurofibromatosis, Pharmacology, business.industry, Cherubism, Jaffe–Campanacci syndrome, medicine.disease, Dermatology, Alagille Syndrome, Phenotype, Lower Extremity, Female, business, Literature survey, Central giant-cell granuloma, Research Article |
| الوصف: | Background/aim Neurofibromatosis type 1 (NF) is an autosomal dominant hereditary disease. The cardinal clinical findings include characteristic skeletal alterations. Difficulties in diagnosis and therapy can arise if an individual has further illnesses. Case report This is a case report of a 16-year-old patient affected by NF1. She also suffered from Alagille syndrome and the consequences of fetal alcohol exposure. The patient's facial phenotype showed findings that could be assigned to one or more of the known diseases. The patient was referred for treating a cherubism-like recurrent central giant cell granuloma (CGCG) of the jaw. The patient developed bilateral, multilocular non-ossifying fibromas (NOF) of the long bones of the lower extremity. Treatment of the skeletal lesions consisted of local curettage. While NOF regressed after surgery, the CGCG of the jaw remained largely unchanged. Extensive genetic tests confirmed a previously unknown germline mutation in the JAG1 gene, the germline mutation of the NF1 gene, and the somatic mutation in the NF1 gene in the diffuse plexiform neurofibroma, but not in the CGCG. Conclusion Assigning facial findings to a defined syndrome is ambiguous in many cases and especially difficult in patients who have multiple diseases that can affect the facial phenotype. Surgical therapy should be adapted to the individual findings. |
| تدمد: | 1791-7549 0258-851X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0158278d2bfa768359264a13fdc708fbTest https://doi.org/10.21873/invivo.12431Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....0158278d2bfa768359264a13fdc708fb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17917549 0258851X |
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