A case of palmoplantar lichen planus in a patient with congenital sensorineural deafness.

We report a case of palmoplantar lichen planus in a 7-year-old Japanese girl with congenital deafness, who presented with erythematous eruptions and hyperkeratosis, with peeling and fissures on her soles, palms and digits. On histological examination of a skin biopsy from the lesion on her wrist, lichen planus was identified. Using computed tomography of the inner ears, bilateral cochlear dysplasia was found. The patient's DNA was sequenced; no sequence variants were detected in the GJB2 gene encoding connexin-26, but she had a missense mutation in SLC26A4 (solute carrier family 26, member 4). Mutations in SLC26A4 are known causes of hearing loss, but this is a novel mutation, which has not been reported previously. In addition, there have been no reports of cutaneous symptoms in previously reported patients with mutations in SLC26A4. To our knowledge, therefore, this is the first report of palmoplantar lichen planus associated with sensorineural deafness accompanied by a mutation in the SLC26A4 gene.

Binocular and monocular measurements of subjective visual vertical in vestibular loss.

The objective of this study was to investigate the possibility to omit the time-consuming monocular vision measurement in the subjective visual vertical (SVV) test by demonstrating that there is no difference in the results between binocular and monocular measurements. Thirty-one patients with unilateral vestibular schwannoma and 20 normal subjects as controls were involved. Both binocular and monocular measurements of SVV were performed. The main outcome of this study was the difference in the results of SVV between binocular and monocular measurements. There were no significant differences in the tilts of the SVV between binocular and monocular measurements in vestibular schwannoma patients as well as in the controls. Abnormal tilts of SVV may be evaluated precisely only by binocular vision instead of monocular vision.

Expression of the osmotically responsive cationic channel TRPV4 in the endolymphatic sac.

The immunohistochemical expression pattern and the physiological role of transient receptor potential vanilloid (TRPV) 4 in the endolymphatic sac were investigated. TRPV4 was expressed predominantly in the apical membrane of mitochondria-rich cells, and cell volume regulation by TRPV4 was observed in a tissue culture of the rat endolymphatic sac. TRPV4 was also present in the endolymphatic sacs of patients with vestibular schwannoma and with Ménière's disease. TRPV4 is assumed to play a role as an osmoreceptor in cell and fluid volume regulation in the human endolymphatic sac.

Expression of membrane-bound and cytosolic guanylyl cyclases in the rat inner ear.

Membrane-bound guanylyl cyclases (GCs) are peptide hormone receptors whereas the cytosolic isoforms are receptors for nitric oxide. In the inner ear, the membrane-bound GCs may be involved in the regulation of fluid homeostasis and the cytosolic forms possibly play a role in signal processing and regulation of local blood flow. In this comprehensive study, we examined, qualitatively and quantitatively, the transcription pattern of all known GC isoforms in the inner ear from rat by RT-PCR. The tissues used were endolymphatic sac, stria vascularis, organ of Corti, organ of Corti outer hair cells, cochlear nerve, Reissner's membrane, vestibular dark cells, and vestibular sensory cells. We show that multiple particulate (GC-A, GC-B, GC-D, GC-E, GC-F and GC-G) and several subunits of the heterodimeric cytosolic GCs (alpha1, alpha2, beta1 and beta2) are expressed, albeit at highly different levels. GC-C was not found. GC-A and the soluble subunits alpha1 and beta1 were transcribed ubiquitously. GC-B was present in all tissues except stria vascularis, which contained GC-A and traces of GC-E and GC-G. GC-B was by far the predominant membrane-bound isoform in the organ of Corti (86%), Reissner's membrane (75%) and the vestibulum (80%). Surprisingly, GC-E, a retinal isoform, was detected in significant amounts in the cochlear nerve (8%) and in the organ of Corti (4%). Although the cytosolic GC is a heterodimer composed of an alpha and a beta subunit, the mRNA transcription of these subunits was not stoichiometric. Particularly in the vestibulum, the transcription of the beta1 subunits was at least four-fold higher than of the alpha1 subunit. The data are compatible with earlier suggestions that membrane receptor GCs may be involved in the control of inner ear electrolyte and fluid composition whereas NO-stimulated GC isoforms mainly participate in the regulation of blood flow and supporting cell physiology.

Expression pattern of adenylyl cyclase isoforms in the inner ear of the rat by RT-PCR and immunochemical localization of calcineurin in the organ of Corti.

Most studies concerning adenylyl cyclases in the inner ear were carried out before the advent of molecular biology. In a PCR approach using cDNAs of six inner ear tissues (stria vascularis, endolymphatic sac, organ of Corti, vestibulum, cochlear and vestibular nerve) we found tissue specific expression of adenylyl cyclase isoforms. Adenylyl cyclases types 2 and 4 are predominant in the fluid controlling tissues, i.e. in the stria vascularis and endolymphatic sac. In the organ of Corti and vestibulum the Ca2+-modulated isoforms types 1, 6 and 9 were expressed. The regulation of adenylyl cyclase 9, which is the major isoform expressed in the organ of Corti, proceeds via the Ca2+-activated protein phosphatase 2B (calcineurin, PPP3). PCR with specific primers for calcineurin demonstrated its abundant expression in the organ of Corti. Using a monoclonal antibody we localized calcineurin immunochemically to the cochlear nerve, the nerve fibers and the inner hair cells. In the cochlear and vestibular nerves a characteristic neuronal expression pattern of adenylyl cyclase isoforms was observed, i.e. adenylyl cyclases types 2, 3 and 8. The functional consequences of the adenylyl cyclase expression pattern in the inner ear are discussed in conjunction with its unique sensory performance.

Expression pattern of aquaporin water channels in the inner ear of the rat. The molecular basis for a water regulation system in the endolymphatic sac.

Mammalian aquaporins constitute a family of so far 10 related water channel proteins which mediate osmotically driven water fluxes across the plasma membrane. Because regulation of the ionic composition and osmolality of inner ear fluids is of great functional significance, we investigated the expression patterns of aquaporins in five defined areas of the rat inner ear by RT-PCR. The tissues used were stria vascularis, endolymphatic sac, Reissner's membrane, vestibulum and organ of Corti. Aquaporin 1 transcripts were detected in all tissues and are probably constitutive. Aquaporin 5 was only expressed in the organ of Corti and in Reissner's membrane. We show that aquaporin 2, so far considered to be specific to the principal cells of the renal collecting duct, is expressed in the endolymphatic sac. Aquaporin 2 expression was not detected in any other inner ear region. The postnatal appearance of aquaporin 2 transcripts in the endolymphatic sac resembled that in the kidney, i.e. it increased postnatally until day 4. The full-length DNA for aquaporin 2 was cloned from cDNA of the endolymphatic sac. It had an irrelevant Ile54Thr mutation because it could be functionally expressed in Xenopus oocytes. Also exclusively in the endolymphatic sac of the inner ear, we detected transcripts for aquaporin isoforms 3 and 4 which are known to be expressed in the renal principal cells. In the kidney, aquaporin 2 regulation involves vasopressin-stimulated, cAMP-dependent phosphorylation of Ser256 of aquaporin 2 which is stored in cytosolic vesicles. These storage vesicles also contain a serpentine calcium/polycation-sensing receptor. Vesicle shuffling to the plasma membrane involves proteins such as vesicle-associated membrane protein VAMP2, syntaxin-4 and the small GTPase Rab3a. Using RT-PCR we were able to demonstrate the expression of all of these components. By analogy the data suggest that in the endolymphatic sac of the inner ear a system for cellular water permeability is in place which may share many similarities with that characterized in the principal cells of the renal collecting duct. These findings may have a number of interesting pharmacological implications which need to be addressed in future studies.

Electrocochleographic study of sudden deafness.

By performing electrochleography (AP, SP and CM) on 34 patients with sudden deafness, it was thought that the pathophysiology of this disease could be deduced. The various waveform patterns of AP and SP responses obtained in cases of sudden deafness were classified into the following types: 1) AP high response; 2) decreased AP high response; 3) AP low response; 4) dominant -SP; 5) -SP or +SP; and 6) AP, SP no response. The cases showing the type of dominant -SP and AP high response had satisfactory prognoses. In these cases the sensory epithelium and the cochlear nerve seemed to indicate a reversible condition being affected by the temporary functional block. Furthermore, it seemed to indicate that the neural regions related to the source of AP(N1) response were impaired in cases in which CM were recorded at normal response threshold in spite of the absence of AP(N1) response. In the unsatisfactory prognosis cases with decreased AP high response, AP low response and AP, SP no response in which only the extremely low or depressed CM responses could be recorded, it seemed that the sensory epithelium and the cochlear nerve were affected permanently, although the degree of impairment varied.

Testosterone and estradiol in juvenile nasopharyngeal angiofibroma tissue.

Five cases of juvenile nasopharyngeal angiofibroma (JNA) were studied in terms of the presence of testosterone and estradiol in the JNA tissues using the peroxidase-antiperoxidase method. Testosterone was found to be negative and estradiol positive in all cases. JNA is considered to be a tumor associated with estradiol.

Sex hormones in the kidney and endolymphatic sac. An immunohistological study.

Autopsy specimens of kidney and endolymphatic sac were studied in terms of progesterone (P), estradiol (E), testosterone (T), dihydrotestosterone (DHT) and aldosterone (A) using the peroxidase-antiperoxidase method. The results obtained were as follows: The epithelial cells of the renal tubules were positive to P, E, T, DHT and A. The epithelial cells of the endolymphatic sac were also positive to these sex hormones though varying in stainability among cases. In view of the immunohistological findings of sex hormones and aldosterone, the resorptive and regulative function of the epithelium in the kidney and endolymphatic sac is discussed.

Altered distribution of motor neurons in experimental facial nerve paralysis.

The alteration of motor neurons in the brainstem after recovery from experimental facial nerve paralysis was examined by the retrograde horseradish peroxidase (HRP) technique in the rabbit. Six months after nerve crush injury at the center of the vertical portion, HRP was injected into the zygomatic muscle on the recovered side. The distribution of labelled neurons in the brainstem was compared with that in the normal rabbit. In control animals, motor neurons in the facial nucleus were somatotopically organized, and there were no labelled neurons in other nuclei in the brainstem. In recovered animals, on the contrary, the somatotopic organization of the facial nucleus was obscure and multipolar neurons of varying size were labelled bilaterally in the reticular formation from the pons to the medulla.

Endolymphatic hydrops induced by noise exposure.

In animal with cochlear deafness induced by firecracker explosion, fibrous degeneration of the endolymphatic sac was observed 4 months after the disappearance of Preyer's reflex. Endolymphatic hydrops induced by noise exposure may develop as the results of degeneration of the endolymphatic sac due to cochlear deafness by acoustic trauma after the lapse of a long period of time.

Sex hormones in juvenile nasopharyngeal angiofibroma tissue.

Five cases of juvenile nasopharyngeal angiofibroma were studied in terms of the presence of progesterone, estradiol, testosterone, and dihydrotestosterone in the juvenile nasopharyngeal angiofibroma tissue using the peroxidase-antiperoxidase method. Progesterone and estradiol were positive in all cases. Testosterone was positive in 2 of the 5 patients. Dihydrotestosterone was positive in 3 of the 5 patients. Hormone in the juvenile nasopharyngeal angiofibroma tissue seems to change by the activity of nasopharyngeal angiofibroma.

A case of delayed endolymphatic hydrops.

A 30-year-old male with delayed endolymphatic hydrops was given a sac operation. An intradural portion of the endolymphatic sac was resected and the epithelial surface was examined under a scanning electron microscope. The epithelium showed fibrous degeneration and disappearance of the epithelial cells. Pathogenesis of degeneration of the endolymphatic sac is discussed.

Estradiol and testosterone in minor salivary glands of Sjögren's syndrome.

Nine patients with Sjögren's syndrome were studied in terms of estradiol, testosterone, and dihydrotestosterone in the labial minor salivary glands using the peroxidase-antiperoxidase method. In normal controls in women, estradiol was positive in the epithelial cells of duct, but testosterone and dihydrotestosterone were negative or doubtfully positive by case. Thus, it seems that there is a sex difference of receptors in the ductal epithelia. In the labial minor salivary glands of the patients, all estradiol, testosterone, and dihydrotestosterone were positive. As the background of Sjögren's syndrome, it seems that there is an influence of sex hormones.

Regional difference in susceptibility to damage of vestibulo-semicircular canals in experimental labyrinthine lesion.

In the study on regional difference in susceptibility to damage of vestibulo-semicircular canals upon causing labyrinthine lesion by four different procedures, namely, by intracranial approach, through the middle ear, through the facial nerve and by means of experimental endolymphatic hydrops, the following results were obtained. 1. The crista of posterior semicircular canal among the semicircular canals and the macula of the saccule within the vestibule were most susceptible to impairment. In other words, the most susceptible region was the so-called pars inferior. In regard to the impairment of the cupulas, the posterior semicircular canal was the most susceptible region. 2. Recovery from markedly reduced caloric nystagmus within a short period so as to see provocation of caloric nystagmus may result from the reconstruction of the cupulas and the normalization of vacuole-like findings of the sensory epithelium.

Experimental labyrinthine disorders and direction of nystagmus.

The purpose of this paper is to demonstrate the variation of the direction of nystagmus which is elicited from the peripheral labyrinth. The direction of nystagmus depends, among other things, on the nature of the stimulus. Depending on the degree of pathophysiological conditions in the labyrinth, atypical nystagmus which does not comply with the rule is occasionally elicited even though the same stimulus is given. Hyperfunctional stimulation to the labyrinth, such as allergy, causes nystagmus which beats to the affected side and also shows hyperactivity of the whole nerve action potential and cochlear microphonics.

A case of bilateral middle-ear squamous cell carcinoma.

Only eight cases of bilateral middle-ear squamous cell carcinoma (SCC) have been reported to date. We present the case of a 75-year-old male with bilateral middle-ear SCC and review the previously reported cases. The patient was diagnosed as having moderately-differentiated SCC in the left middle ear in February 1995 and well-differentiated SCC in the right middle ear in September 1997. He initially received radiation therapy with (60)Co pendulum (64 Gy) in the left ear and was subsequently treated by Liniac irradiation (50 Gy) in the right ear. He has now been followed up at our ENT clinic for 29 months without vertigo or facial nerve palsy since the second radiation therapy. Although he has a residual tumour in the right middle ear invading the middle cranial fossa dura, no sign of recurrence has been detected in the left ear.

[A case of facial nerve schwannoma extending into the middle cranial fossa with characteristic CT findings].

Facial nerve schwannoma is rare. Since the first description by Schmid, about 150 cases have been reported mainly in the otological field. The authors recently had a case of facial nerve schwannoma with a marked capsular calcification, extending into the middle cranial fossa. A 63-year-old man was admitted to our hospital on June 20, 1986. About 44 years prior to the admission, he noted facial weakness of the right side which gradually progressed. Neurological examination on admission revealed complete right facial paralysis of the peripheral type with loss of taste, right hearing loss, diminution of lacrimal secretion and no reaction to caloric stimulation. Stenvers' view and tomogram of the right temporal bone showed destruction of petrous ridge. CT scan demonstrated bony destruction of the right petrous pyramid and high dense mass lesion, extending into the middle cranial fossa. Peritumoral and intratumoral calcifications, characteristics of facial nerve schwannoma were also noted. Right external carotid angiography demonstrated the tumor was fed by petrous branch of the right middle meningeal artery. On July 11, 1986 right temporal craniotomy and extradural approach to the floor of the petrous portion of the middle cranial fossa were performed. There was an extradural mass which extended to the middle cranial fossa through the destroyed pyramis. The tumor appeared to originate from the geniculate ganglion of the facial nerve and invaded the inner and middle ear which were almost completely removed. Operative specimen demonstrated that the tumor was a schwannoma. Postoperative hearing test and facial nerve function showed no changes as compared with preoperative findings. Similar case reports with CT findings were reviewed.

[Sex hormones in fibrous dysplasia of the facial bone--an immunohistological study].

Fibrous dysplasia of the facial bones frequently occurs in the maxilla around the time of puberty and becomes inactive when skeletal growth is completed. A case of fibrous dysplasia of the maxilla and sphenoidal-temporal bone in a 19 year-old male was studied, in terms of the presence of estradiol, testosterone and dihydrotestosterone, using the peroxidase-antiperoxidase method. This case underwent partial surgical resection, for cosmetic deformity, of the maxillary tumor which, however, relapsed to preoperative size within three weeks. Estradiol and testosterone were strongly positive and dihydrotestosterone was slightly positive in the tumor cells. Sex hormones were apparently present in the tumor cells and exerted a strong influence on the growth of the fibrous dysplasia.

[Detection of immunoglobulin in the inner ear tissue by PAP method].

The distribution of immunoglobulins IgG, IgA and IgM in the inner ear tissue from a patient who died of lung bleeding followed after sepsis was studied, and also the normal guinea pig inner ears and the inner ear disorders induced by Kanamycin injection were studied for the distribution of IgG. The temporal bones were fixed in formaldehyde, decalcified in EDTA and embedded in paraffin. The PAP method was used for the demonstration of the immunoglobulins. In both the human inner ear tissue and the normal control inner ear tissue of the guinea pigs deposits of IgG were found in the sensory organs and the endolymphatic sac, however, in the stria vascularis was slight. The severe damaged inner ears induced by Kanamycin the remarkable decreased deposits of IgG were found in the cochlea, but in the endolymphatic sac the remarkable increased deposits of IgG were found. No IgA and IgM were found in the human inner ear tissue.