RESUMO
A Síndrome de Vohwinkel ou ceratodermia hereditária mutilante é uma ceratodermia palmoplantar rara, que se manifesta na infância e se torna mais evidente nas fases de adolescência e idade adulta. Doença de herança preferencialmente autossômica dominante, acomete mais mulheres e caucasianos. A hiperceratose palmoplantar difusa, com aparência de favo de mel; as faixas constritivas digitais conhecidas como pseudoainhum, e as placas ceratósicas em forma de estrela-do-mar no dorso de mãos e pés, podendo acometer cotovelos e joelhos, são os achados clínicos característicos da Síndrome. O presente trabalho trata de um relato de caso de uma paciente com Síndrome de Vohwinkel e a terapêutica cirúrgica realizada nas faixas constritivas.
Vohwinkel syndrome, also known as hereditary mutilating keratoderma, is a rare palmoplantar keratoderma that manifests in childhood and becomes more evident in adolescence and adulthood. This preferential autosomal dominant disease affects more women and Caucasians. Its clinical features are diffuse palmoplantar keratoderma with the appearance of honeycomblike constricting rings in the fingers and toes known as pseudo-ainhum, and starfish-shaped keratotic plaques on the dorsal aspect of the hands and feet that can affect the elbows and knees. The present report describes a case report of a patient with Vohwinkel syndrome and surgical correction of the constrictive bands.
Assuntos
Humanos , Masculino , Adulto , História do Século XXI , Retinoides , Calosidades , Literatura de Revisão como Assunto , Ceratodermia Palmar e Plantar , Transplantes , Doenças Raras , Amputação Cirúrgica , Ceratolíticos , Retinoides/uso terapêutico , Retinoides/farmacologia , Calosidades/cirurgia , Calosidades/patologia , Ceratodermia Palmar e Plantar/cirurgia , Ceratodermia Palmar e Plantar/patologia , Transplantes/cirurgia , Doenças Raras/história , Doenças Raras/patologia , Amputação Cirúrgica/efeitos adversos , Amputação Cirúrgica/métodos , Ceratolíticos/uso terapêutico , Ceratolíticos/farmacologiaRESUMO
Objective To detect the mutations in connexin genes in a family with hidrotic ectodermal dysplasia(HED)complicated by pseudo-ainhum.Methods Peripheral blood samples were collected from a 20-year-old patient with HED complicated by pseudo-ainhum,and from his unaffected sister.Total DNA was extracted from these samples,and PCR was performed to amplify the partial coding region of GJB2,GJB5 and GJB6 genes.Subsequently.PCR products were bidirectionally sequenced in both subjects.Results No mutation was detected in GJB5 or GJB6 gene in either subjects.Two mutations (V27I and V37I)were detected in the GJB2 gene in the patient but not in his sister.Conclusion The mutation in the GJB6 gene may be absent in patients with HED;there might be other genes involved in the pathogenesis.