Multiple osteolytic lesions of the jaws in a patient with neurofibromatosis type I. A case report and focused literature review

Tosios, Konstantinos I.; Delli, Konstantina; Makris, Nikos

doi:10.1111/ors.12389

Cited by 1 publication

(5 citation statements)

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“…In a group of 83 patients with CGCG, there were 2 patients with proven NF1 (2.41%) (29). The total case number of extensive NF1-associated CGCG was slightly more than 10 in a recent review of reports published in English (41). Indeed, the association between CGCG and some cases of NF1 is apparently largely unknown (66).…”

Section: Cgcg Of Jaws In Nf1mentioning

confidence: 98%

“…A recently presented overview of reports on extensive and bilateral CGCG in 10 NF1 patients shows that the average age of the patients is 30.2 years (41). Only one patient was younger than 10 years at the time of diagnosis of the jaw lesions and two were aged 11 years (41). It was emphasized that these patients had not developed a typical cherubism phenotype.…”

Section: Importance Of Cgcg In the Diagnosis Of Jcs In Nf1mentioning

confidence: 98%

“…However, the jaw lesion can be clearly distinguished from the giant cell granuloma-like lesion of the extremities by localization and X-ray findings (25). Problems in correctly diagnosing bone lesions in NF1 can arise if an individual develops osteolytic lesions both in the jaw and in the long bones, the former one indicative of CGCG and the latter of GCT, NOF or other types of non-ossifying bone lesions (40,41).…”

Section: Central Giant Cell Granuloma Of Jaws (Cgcg)mentioning

confidence: 99%

“…Phenocopies of cherubism without evidence of SH3BP2 mutation should be called cherubismlike only in a descriptive sense (119). Indeed, the clinical/radiological phenotypes of large or multilocular CGCGs (62) can show gradual shifting to a case of cherubism, especially if the multilobulated osseous jaw lesion has expanded bilaterally and symmetrically in relation to the median sagittal plane of the body (41). Symmetry of bone lesions is a characteristic but not obligatory finding in cherubism (144,145).…”

Section: Importance Of Cgcg In the Diagnosis Of Jcs In Nf1mentioning

confidence: 99%

“…It was emphasized that these patients had not developed a typical cherubism phenotype. However, extensive jaw lesions and multilocular formation have been described, including cases with lesions in both jaws (41). There appears to be a distinction between the early onset of jaw lesions in cherubism (usually noticeably below 10 years of age) and the (extensive) CGCG associated with NF1 (usually older than 10 years) concerning the age of diagnosis.…”

Section: Importance Of Cgcg In the Diagnosis Of Jcs In Nf1mentioning

confidence: 99%

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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: Cgcg Of Jaws In Nf1mentioning

confidence: 98%

Section: Importance Of Cgcg In the Diagnosis Of Jcs In Nf1mentioning

confidence: 98%