Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations

Abstract Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity. This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorineural hearing loss syndrome which has not been reported before in 3 siblings of a large consanguineous family. The patients presented unique clinical features that were different from other known Inherited Palmoplantar Keratodermas -hearing loss syndromes. Mutations in GJB2 or GJB6 and the mitochondrial A7445G mutation, known to be the major causes of diverse Inherited Palmoplantar Keratodermas -hearing loss syndromes were not detected by Sanger sequencing. Moreover, the pathogenic mutation could not be identified using whole exome sequencing. Other known Inherited Palmoplantar keratoderma syndromes were excluded based on both clinical criteria and genetic analysis.

Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report / Sindrome de Vohwinkel, variante ictiosiforme - de Camisa - Relato de caso

Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome.

A síndrome de Vohwinkel ou queratodermia hereditária mutilante é uma queratose palmo-plantar rara, autossômica dominante, que se manifesta em crianças e se torna mais evidente na vida adulta. Seu modo de herança é autossômica dominante com mutação na loricrina e no gen da Conexina 26. Os pacientes com esta mutação apresentam hiperqueratose das palmas das mãos e plantas dos pés, com bandas constritivas dos dígitos, normalmente no quinto dedo e hiperqueratose em forma de estrela do mar nas regiões dorsais das mãos e dos pés. A doença ocorre principalmente em mulheres brancas, onde as bandas constritivas fibrosas aparecerem nos dígitos e podem levar ao estrangulamento progressivo e auto-amputação (pseudo-ainhum).Os autores relatam o caso de uma variante ictiosiforme da síndrome de Vohwinkel.

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.

BACKGROUND: Hearing loss is the most prevalent human genetic sensorineural defect. Mutations in the CLDN14 gene, encoding the tight junction claudin 14 protein expressed in the inner ear, have been shown to cause non‑syndromic recessive hearing loss DFNB29. AIM: We describe a Moroccan SF7 family with non‑syndromic hearing loss. We performed linkage analysis in this family and sequencing to identify the mutation causing deafness. MATERIALS AND METHODS: Genetic linkage analysis, suggested the involvement of CLDN14 and KCNE1 gene in deafness in this family. Mutation screening was performed using direct sequencing of the CLDN14 and KCNE1 coding exon gene. RESULTS: Our results show the presence of c.11C>T mutation in the CLDN14 gene. Transmission analysis of this mutation in the family showed that the three affected individuals are homozygous, whereas parents and three healthy individuals are heterozygous. This mutation induces a substitution of threonine to methionine at position 4. CONCLUSION: These data show that CLDN14 gene can be i mplicated in the development of hearing loss in SF7 family; however, the pathogenicity of c.11C>T mutation remains to be determined.

Rendimiento auditivo en pacientes menores de 2 años comparado con pacientes entre 2 y 5 años con implante coclear / Auditory performance in patients younger than 2 years old and patients between two and five years old who were intervened with cochlear implant

Objetivos: Conocer y comparar la evolución del rendimiento auditivo de los pacientes menores de 2 años (prelinguales) y entre 2 a 5 años (perilinguales) con hipoacusia neurosensorial severa a profunda que fueron intervenidos con la colocación del implante coclear. Materiales y métodos: Estudio descriptivo de pacientes del programa de implante coclear del Hospital Militar Central y el Hospital Universitario Clínica San Rafael. Se incluyeron pacientes prelinguales y perilinguales a los cuales se les realizó seguimiento del rendimiento auditivo con las pruebas de IT-MAIS y otthingham durante 3, 6 y 12 meses posimplante durante los años 2001 a 2008. Resultados: La población blanco fueron 84 pacientes de los cuales 53 pacientes cumplieron con los criterios de inclusión, 13 fueron prelinguales y 40 en proceso de adquisición del lenguaje o perilinguales, las dos pruebas alcanzaron un valor estadísticamente significativo con p menor de 0.05, a favor del grupo de pacientes prelinguales, es decir, que la intervención con el implante coclear en los pacientes prelinguales tiene mejor resultado que en los pacientes perilinguales. Conclusión: los pacientes prelinguales con implante coclear tienen mejor rendimiento auditivo que los pacientes perilinguales al año de seguimiento.

Objectives: To get to know and compare the evolution of auditory performance of children younger tan 2 years old (prelingual) and children between two and five years old (perilingual) with severe to profound sensorineural hearing loss that were implanted with a cochlear implant. Material and Methods: A descriptive study of patients that are part of the cochlear implant program at Hospital Militar central and at Hospital Universitario Clínica San Rafael. Prelingual and perilingual patients were included for follow - up of the auditory performance with the following tests IT-MAIS and Nottingham for 3, 6 and 12 months after the implant from 2001 to 2008. Results: The target population was 84 patients out of which 53 patients complied with the inclusion criteria, 13 of which were prelingual and 40 were in the process of acquiring the language or perilingual. Both tests reached a statistically significant value with p lower than 0.05, in favor of the prelingual group of patients. That is, the surgery with a cochlear implant has a better result in prelingual patients than it does in perilingual patients. Conclusion: perilingual patients with cochlear implants have a better auditory performance than perilingual patients after a follow-up of a year.

Restauración de la audición con prótesis implantables. B.A.H.A., implante coclear e implante auditivo de tronco cerebral / Restoration of hearing with implantable prosthesis

The authors' present an experience with restoration of hearing with implantable prothesis

The Usefulness of MR Imaging of the Temporal Bone in the Evaluation of Patients with Facial and Audiovestibular Dysfunction

OBJECTIVE: To evaluate the clinical utility of MR imaging of the temporal bone in patients with facial and audiovestibular dysfunction with particular emphasis on the importance of contrast enhancement. MATERIALS AND METHODS: We retrospectively reviewed the MR images of 179 patients [72 men, 107 women; average age, 44 (range, 1-77) years] who presented with peripheral facial palsy (n=15), audiometrically proven sensorineural hearing loss (n=104), vertigo (n=109), or tinnitus (n=92). Positive MR imaging findings possibly responsible for the patients' clinical manifestations were categorized according to the anatomic sites and presumed etiologies of the lesions. We also assessed the utility of contrast-enhanced MR imaging by analyzing its contribution to the demonstration of lesions which would otherwise not have been apparent. All MR images were interpreted by two neuroradiologists, who reached their conclusions by consensus. RESULTS: MR images demonstrated positive findings, thought to account for the presenting symptoms, in 78 (44%) of 179 patients, including 15 (100%) of 15 with peripheral facial palsy, 43 (41%) of 104 with sensorineural hearing loss, 40 (37%) of 109 with vertigo, and 39 (42%) of 92 with tinnitus. Thirty (38%) of those 78 patients had lesions that could be confidently recognized only at contrastenhanced MR imaging. CONCLUSION: Even though its use led to positive findings in less than half of these patients, MR imaging of the temporal bone is a useful diagnostic procedure in the evaluation of those with facial and audiovestibular dysfunction. Because it was only at contrast-enhanced MR imaging that a significant number of patients showed positive imaging findings which explained their clinical manifestations, the use of contrast material is highly recommended.