RESUMO
CEDNIK (Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) syndrome is a neuro ichthyotic syndrome characterized by a clinical constellation of features including severe developmental delay, microcephaly, and facial dysmorphism. Here, we report the clinical and molecular characterization of a patient with CEDNIK syndrome harboring two compound heterozygous variants in the SNAP29 gene. The patient presents a combination of a loss-of-function SNAP29 mutation and a â¼370 kb 22q11.2 deletion, each of these genetic variants inherited from one of the parents. This report provides detailed data of a patient with unprecedented genetic events leading to the CEDNIK phenotype and may contribute to the elucidation of this rare condition.
Assuntos
Ceratodermia Palmar e Plantar , Proteínas Qc-SNARE , Brasil , Humanos , Ceratodermia Palmar e Plantar/genética , Ceratodermia Palmar e Plantar/patologia , Mutação , Síndromes Neurocutâneas , Fenótipo , Proteínas Qb-SNARE/genética , Proteínas Qc-SNARE/genéticaAssuntos
Ainhum/genética , Constrição Patológica/genética , Ceratodermia Palmar e Plantar/genética , Mutação de Sentido Incorreto/genética , Canais de Cátion TRPV/genética , Administração Tópica , Adulto , Ainhum/diagnóstico , Ainhum/patologia , Biópsia , Constrição Patológica/diagnóstico , Constrição Patológica/patologia , Cuba/epidemiologia , Feminino , Humanos , Ceratodermia Palmar e Plantar/diagnóstico , Ceratodermia Palmar e Plantar/tratamento farmacológico , Ceratodermia Palmar e Plantar/patologia , Ácido Láctico/administração & dosagem , Ácido Láctico/uso terapêutico , Linhagem , Canais de Cátion TRPV/metabolismo , Ureia/administração & dosagem , Ureia/uso terapêuticoRESUMO
Aquagenic keratoderma is a benign entity that is characterized by producing whitish or translucent papules a few seconds after contact with water. We present the case of a 16-year-old patient with multiple asymptomatic confluent papules that appeared on both hand palms after contact with water and which disappeared after drying. The histopathological findings in a skin biopsy after water exposure showed changes in the superficial layers of the stratum corneum and dilatation of sweat gland ducts. This entity of unknown etiology has been related to neuronal and eccrine gland dysfunction. Recently it has been associated with alterations of aquaporins. The "hand-in-the-bucket" sign is a simple useful clinical tool for diagnosis, as histopathological findings may be nonspecific. Topical treatments include barrier mechanisms and botulinum toxin.
La queratodermia acuagénica es una entidad benigna, caracterizada por producir pápulas blanquecinas o traslúcidas pocos segundos después del contacto con el agua. Se presenta el caso de una paciente de 16 años de edad con aparición de múltiples pápulas confluentes y asintomáticas en ambas palmas al contacto con el agua, que desaparecían luego del secado. En el estudio de histopatología se observó dilatación de los conductos ecrinos y cambios en el estrato córneo. Esta rara condición de etiología desconocida se ha relacionado con disfunción neuronal, alteraciones de las glándulas ecrinas y, más recientemente, con alteraciones en las acuaporinas. Se puede diagnosticar con una prueba semiológica sencilla llamada 'la mano en el balde'; la sospecha clínica es fundamental para hacer el diagnóstico, ya que los hallazgos histopatológicos pueden ser sutiles e inespecíficos. El tratamiento tópico incluye mecanismos de barrera y la toxina botulínica.
Assuntos
Dermatoses da Mão/etiologia , Ceratodermia Palmar e Plantar/etiologia , Água/efeitos adversos , Adolescente , Biópsia , Diagnóstico Diferencial , Feminino , Dermatoses da Mão/patologia , Humanos , Ceratodermia Palmar e Plantar/diagnóstico , Ceratodermia Palmar e Plantar/patologiaRESUMO
Resumen La queratodermia acuagénica es una entidad benigna, caracterizada por producir pápulas blanquecinas o traslúcidas pocos segundos después del contacto con el agua. Se presenta el caso de una paciente de 16 años de edad con aparición de múltiples pápulas confluentes y asintomáticas en ambas palmas al contacto con el agua, que desaparecían luego del secado. En el estudio de histopatología se observó dilatación de los conductos ecrinos y cambios en el estrato córneo. Esta rara condición de etiología desconocida se ha relacionado con disfunción neuronal, alteraciones de las glándulas ecrinas y, más recientemente, con alteraciones en las acuaporinas. Se puede diagnosticar con una prueba semiológica sencilla llamada 'la mano en el balde'; la sospecha clínica es fundamental para hacer el diagnóstico, ya que los hallazgos histopatológicos pueden ser sutiles e inespecíficos. El tratamiento tópico incluye mecanismos de barrera y la toxina botulínica.
Abstract Aquagenic keratoderma is a benign entity that is characterized by producing whitish or translucent papules a few seconds after contact with water. We present the case of a 16-year-old patient with multiple asymptomatic confluent papules that appeared on both hand palms after contact with water and which disappeared after drying. The histopathological findings in a skin biopsy after water exposure showed changes in the superficial layers of the stratum corneum and dilatation of sweat gland ducts. This entity of unknown etiology has been related to neuronal and eccrine gland dysfunction. Recently it has been associated with alterations of aquaporins. The "hand-in-the-bucket" sign is a simple useful clinical tool for diagnosis, as histopathological findings may be nonspecific. Topical treatments include barrier mechanisms and botulinum toxin.
Assuntos
Adolescente , Feminino , Humanos , Água/efeitos adversos , Ceratodermia Palmar e Plantar/etiologia , Dermatoses da Mão/etiologia , Biópsia , Ceratodermia Palmar e Plantar/diagnóstico , Ceratodermia Palmar e Plantar/patologia , Diagnóstico Diferencial , Dermatoses da Mão/patologiaRESUMO
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.
Assuntos
Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/patologia , Ceratodermia Palmar e Plantar/genética , Ceratodermia Palmar e Plantar/patologia , Mutação/genética , Adolescente , Biópsia , Criança , Feminino , Humanos , Masculino , Irmãos , Síndrome , Sequenciamento do ExomaRESUMO
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.