Clinical features of bilateral temporal bone xanthoma with LDLR gene mutation.
Here we presented a rare case of bilateral temporal bone xanthoma associated with type II hyperlipidemia. The lesion caused osteolytic destruction in mastoid air cells, auditory ossicles and bony labyrinth. The patient was operated on the symptomatic side and the lesion was totally removed. The type of LDLR gene mutation had been clarified for the members of the patient's family. This case was the first one regarding bilateral temporal bone leading to retroauricular swelling. The patient need life-long follow-up by either CT or MR imaging.
Department of Otolaryngology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, Shaanxi Province, China.
Yu
Y
Han
Department of Otolaryngology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, Shaanxi Province, China.
Wei
W
Gao
Department of Otolaryngology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, Shaanxi Province, China.
Pengfei
P
Liang
Department of Otolaryngology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, Shaanxi Province, China.
Shujuan
S
Wang
Department of Otolaryngology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, Shaanxi Province, China. Electronic address: chendoc@fmmu.edu.cn.
Yang
Y
Chen
Department of Otolaryngology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, Shaanxi Province, China.
Jianhua
J
Qiu
D001847:Bone Diseases / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D004429:Ear Ossicles / Q000473:pathology; D007758:Ear, Inner / Q000473:pathology; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications*; D009154:Mutation; D010014:Osteolysis / Q000209:etiology; D011859:Radiography; D011973:Receptors, LDL / Q000235:genetics*; D013701:Temporal Bone / Q000000981:diagnostic imaging / Q000473:pathology*; D014973:Xanthomatosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D055815:Young Adult
C573412:LDLR protein, human; D011973:Receptors, LDL
Bilateral; Gene mutation; Hypercholesterolemia; LDLR; Temporal bone; Xanthoma