Hereditary bilateral conductive hearing loss caused by total loss of ossicles: a report of familial expansile osteolysis.
OBJECTIVE
The objective of this study was to report on three members of a family with familial expansile osteolysis; the important point about these patients was that none of them had middle-ear ossicles.


METHODS
A retrospective case review including three cases with familial expansile osteolysis.


METHODS
Department of Otolaryngology in a tertiary referral center.


METHODS
Each patient underwent computerized tomography of the temporal bone in the coronal view, audiometric and tympanometric evaluations, biochemical investigation, whole body isotope scans by Tc-99 mMDP and X-ray. Also the patients' pedigree was studied. Two of the patients had exploratory middle-ear surgery as well.


RESULTS
The temporal-bone computed-tomography scan in the coronal view of all three patients and also exploratory middle-ear surgery, which was done on two of the patients, showed no ossicles in the middle ear of either ear in all three cases. This feature hadn't been reported in previous studies. Hearing loss was revealed in the medical histories since childhood. Audiometry indicated mild to moderate conductive and mixed hearing loss and also an AD-type tympanogram pattern along with an absence of acoustic reflexes in both ears of the cases. Both serum alkaline phosphatase and hydroxyproline levels were elevated. There was an increase in uptake and activity at multiple foci of the whole skeleton. No improvement in hearing thresholds was obtained after reconstruction of the middle ear.


CONCLUSIONS
The total absence of middle-ear ossicles can probably be regarded as a new symptom in some patients with familial expansile osteolysis. Common ossiculoplasty for improving the hearing thresholds in this condition may be unsuccessful; therefore, both surgeons and patients must be completely aware of the contingent undesirable results.
Daneshi
Ahmad
A
Department of Otolaryngology, Iran University of Medical Sciences, Hazrat Rasoul Akram Hospital, Tehran, Iran. daneshi@daneshi.net
Shafeghati
Yousef
Y
Karimi-Nejad
Mohammad Hassan
MH
Khosravi
Amir
A
Farhang
Fariba
F
D000293:Adolescent; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D004429:Ear Ossicles / Q000002:abnormalities*; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006310:Hearing Aids; D006312:Hearing Loss, Bilateral / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D006314:Hearing Loss, Conductive / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D046089:Hearing Loss, Mixed Conductive-Sensorineural / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009998:Ossicular Prosthesis; D010001:Osteitis Deformans / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D010015:Osteolysis, Essential / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D010375:Pedigree; D053245:RANK Ligand; D053246:Receptor Activator of Nuclear Factor-kappa B
D002352:Carrier Proteins; D008562:Membrane Glycoproteins; D053245:RANK Ligand; D053246:Receptor Activator of Nuclear Factor-kappa B; C505686:TNFRSF11A protein, human; C505688:TNFSF11 protein, human