Wirbelsäulenveränderungen bei Neurofibromatose im Kindesalter

Köhler, Birgit; Hauke, H.

doi:10.1055/s-2008-1047157

Cited by 2 publications

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“…For most patients, the unilateral increase in facial volume is the result of nerve sheath tumor growth. True local hypertrophies of the jaw, especially the mandible, have rarely been reported in NF1 (15) and the topographical relation with a PNF needs to be examined in the individual case (16). So far, the causes of bone dysplasia in NF1 are unknown and are very likely multifactorial (8,9).…”

Section: Histology Of Cgcg Giant Cell Granuloma In Neurofibromatosis 1: (A) Hematoxylin and Eosin (Hande) Stain Reveals A Proliferation Omentioning

confidence: 99%

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

Friedrich

Zustin

Luebke

et al. 2021

In Vivo

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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 cherubismlike recurrent central giant cell granuloma (CGCG) of the jaw. The patient developed bilateral, multilocular nonossifying 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.Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disorder (1). The disease has a high penetrance (about 100%). However, the phenotype is extremely variable (2). The NF1 gene is located on chromosome 17q11.2 (3, 4). NF1 is a tumor suppressor gene syndrome (5) and the most common monogenetic disease predisposing to cancer (1). NF1 is primarily characterized by multiple skin tumors. The tumors are of neurogenic origin termed neurofibroma. Somatic mutations of NF1 gene in neurofibroma arise in Schwann cells or precursors of Schwann cells. Since Schwann cells originate from the neural crest, NF1 is rated among the diseases that are characterized by mutations in neural crest cells (6). The frequent and numerous neoplasms of NF1 patients arise primarily from the connective soft tissues. Genetic studies show that many of the different neoplasms arising in NF1 patients meet the criteria of somatic allelic loss of NF1 gene according to Knudson's two-hit hypothesis of tumor development (7). However, the unusual variety of symptoms and findings in NF1 patients go far beyond the spectrum of neoplastic lesions (1). Most cases are diagnosed by clinical examination (Table I). Diagnosis and treatment of NF1 patients can be made more difficult if other diseases develop in the same individual and 1711 This article is freely accessible online.

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Section: Histology Of Cgcg Giant Cell Granuloma In Neurofibromatosis 1: (A) Hematoxylin and Eosin (Hande) Stain Reveals A Proliferation Omentioning

confidence: 99%