RT Journal Article
SR Electronic
T1 Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey
JF In Vivo
JO In Vivo
FD International Institute of Anticancer Research
SP 1711
OP 1736
DO 10.21873/invivo.12431
VO 35
IS 3
A1 REINHARD E. FRIEDRICH
A1 JOZEF ZUSTIN
A1 ANDREAS M. LUEBKE
A1 THORSTEN ROSENBAUM
A1 MARTIN GOSAU
A1 CHRISTIAN HAGEL
A1 FELIX K. KOHLRUSCH
A1 ILSE WIELAND
A1 MARTIN ZENKER
YR 2021
UL http://iv.iiarjournals.org/content/35/3/1711.abstract
AB 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.