Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey
Standard
Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey. / Friedrich, Reinhard E; Kohlrusch, Felix K; Luebke, Andreas M.
in: ANTICANCER RES, Jahrgang 39, Nr. 12, 12.2019, S. 6769-6780.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Review › Forschung
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey
AU - Friedrich, Reinhard E
AU - Kohlrusch, Felix K
AU - Luebke, Andreas M
N1 - Copyright© 2019, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.
PY - 2019/12
Y1 - 2019/12
N2 - BACKGROUND: Certain constitutive chromosomal abnormalities of the human X chromosome are relatively common in conspicuous neuropsychiatric findings. Although tumors or tumor-like lesions are occasionally reported in diseases of the X chromosome, they are numerically negligible, for example, in aneuploidy such as the triple X syndrome (TXS).CASE REPORT: A 16-year-old female patient with a known TXS and premutation stage of fragile X syndrome was referred by her dentist for diagnosis and treatment of unilateral cheek swelling. The examination of the psychologically conspicuous patient revealed a unilateral mandibular tumor with dysesthesia of the mental nerve. Surgical removal of soft, crumbly spongiosa over the nerve canal resulted in sufficient pressure release of the constricted nerve and restoration of epicritic sensitivity. Imaging findings and histological and molecular genetic examination revealed monostotic craniofacial fibrous dysplasia.CONCLUSION: Although the data in the literature do not give reason to suppose an accumulation of neoplasms in TXS, a numb chin syndrome should be a reason for detailed diagnostics. Careful diagnosis allows for customized therapy. This is the first report on the coincidence of TXS, fragile X syndrome, and fibrous dysplasia in a single individual.
AB - BACKGROUND: Certain constitutive chromosomal abnormalities of the human X chromosome are relatively common in conspicuous neuropsychiatric findings. Although tumors or tumor-like lesions are occasionally reported in diseases of the X chromosome, they are numerically negligible, for example, in aneuploidy such as the triple X syndrome (TXS).CASE REPORT: A 16-year-old female patient with a known TXS and premutation stage of fragile X syndrome was referred by her dentist for diagnosis and treatment of unilateral cheek swelling. The examination of the psychologically conspicuous patient revealed a unilateral mandibular tumor with dysesthesia of the mental nerve. Surgical removal of soft, crumbly spongiosa over the nerve canal resulted in sufficient pressure release of the constricted nerve and restoration of epicritic sensitivity. Imaging findings and histological and molecular genetic examination revealed monostotic craniofacial fibrous dysplasia.CONCLUSION: Although the data in the literature do not give reason to suppose an accumulation of neoplasms in TXS, a numb chin syndrome should be a reason for detailed diagnostics. Careful diagnosis allows for customized therapy. This is the first report on the coincidence of TXS, fragile X syndrome, and fibrous dysplasia in a single individual.
KW - Adolescent
KW - Female
KW - Fibrous Dysplasia, Polyostotic/complications
KW - Fragile X Syndrome/complications
KW - Humans
KW - Mandibular Diseases/complications
KW - Phenotype
U2 - 10.21873/anticanres.13892
DO - 10.21873/anticanres.13892
M3 - SCORING: Review article
C2 - 31810942
VL - 39
SP - 6769
EP - 6780
JO - ANTICANCER RES
JF - ANTICANCER RES
SN - 0250-7005
IS - 12
ER -