Asunto(s)
Carcinoma in Situ/etiología , Melanoma Amelanótico/etiología , Neoplasias Nasales/etiología , Quemadura Solar/complicaciones , Anciano , Biopsia , Carcinoma in Situ/patología , Carcinoma in Situ/cirugía , Diagnóstico Diferencial , Humanos , Masculino , Melanoma Amelanótico/patología , Melanoma Amelanótico/cirugía , Neoplasias Nasales/patología , Neoplasias Nasales/cirugía , Colgajos QuirúrgicosRESUMEN
Keratitis-ichthyosis-deafness syndrome is a rare congenital ectodermal disorder, characterized by presence of skin lesions, neurosensory hearing loss, and vascularizing keratitis. Several autosomal dominant mutations in the Connexin 26 gene (GJB2) have been discovered as a cause of this syndrome. We report two patients who presented with a combination of clinical features of keratitis-ichthyosis-deafness syndrome (e.g., congenital bilateral neurosensory hearing loss and erythrokeratoderma), however, lacking other characteristics typical of this condition. In addition, they both demonstrated striking mucocutaneous findings (e.g., chronic lip fissuring, gingival hyperemia), resulting in diagnostic difficulties. In both patients, a GJB2 mutation (N14K) was identified, which shares the same gene with classic Keratitis-ichthyosis-deafness syndrome but has never been described in patients with this condition. We propose that the findings observed in our patients are a distinct subtype of Keratitis-ichthyosis-deafness syndrome, thus expanding the spectrum of connexin-associated keratodermias.
Asunto(s)
Conexinas/genética , Sordera/genética , Ictiosis/genética , Queratitis/genética , Mutación Puntual , Biopsia , Niño , Preescolar , Conexina 26 , Sordera/clasificación , Sordera/diagnóstico , Femenino , Humanos , Ictiosis/clasificación , Ictiosis/patología , Queratitis/clasificación , Queratitis/patología , SíndromeRESUMEN
This case describes an unusual presentation of dermatomyositis in a patient with ovarian carcinoma. The eruption appeared as a venous stasislike dermatitis. The temporal sequence of onset after chemotherapy administration suggested a possible drug-induced process. However, in the context of underlying ovarian carcinoma, a paraneoplastic process offered an alternative explanation for the dermatomyositis.
Asunto(s)
Dermatomiositis/diagnóstico , Erupciones por Medicamentos/diagnóstico , Dermatosis de la Pierna/diagnóstico , Síndromes Paraneoplásicos/diagnóstico , Anciano de 80 o más Años , Antineoplásicos/efectos adversos , Carboplatino/efectos adversos , Dermatomiositis/etiología , Diagnóstico Diferencial , Erupciones por Medicamentos/etiología , Femenino , Humanos , Dermatosis de la Pierna/etiología , Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/tratamiento farmacológico , Paclitaxel/efectos adversos , Síndromes Paraneoplásicos/etiología , Piel/patología , Insuficiencia Venosa/diagnósticoAsunto(s)
Artritis Reumatoide/tratamiento farmacológico , Hipopigmentación/etiología , Inmunoglobulina G/efectos adversos , Linfoma Cutáneo de Células T/complicaciones , Micosis Fungoide/etiología , Neoplasias Cutáneas/complicaciones , Artritis Reumatoide/complicaciones , Población Negra , Etanercept , Femenino , Humanos , Hipopigmentación/patología , Persona de Mediana Edad , Micosis Fungoide/patología , Receptores del Factor de Necrosis Tumoral , Neoplasias Cutáneas/patologíaRESUMEN
OBJECTIVE: The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26). STUDY DESIGN: The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis. METHODS: The study subject was a male infant with keratitis-ichthyosis-deafness (KID) syndrome. We performed a nucleotide sequence analysis of GJB2 and a histopathologic analysis of the temporal bones. RESULTS: The subject was heterozygous for G45E, a previously reported KID syndrome mutation of GJB2. The primary inner ear abnormality was dysplasia of the cochlear and saccular neuroepithelium. CONCLUSIONS: GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation.
