RESUMO
Pathogenic germline variants in the gap junction protein alpha 1 (GJA1) gene have been identified in several congenital disorders affecting cutaneous, skeletal, and cardiac tissues. Here, we describe a 12-year-old patient with a GJA1 c.113G>A, p.(Gly38Glu) variant, who presented with fulminant myocarditis following recurrent generalized erythrokeratoderma. His mother and younger sister had the same clinical manifestations with the same GJA1 variant, but did not have cardiac dysfunction. GJA1 variants have been reported in patients with congenital cardiac malformations, while acute myocarditis in GJA1-related disorders has not been reported so far.
Assuntos
Conexina 43/genética , Eritroceratodermia Variável/genética , Cardiopatias Congênitas/genética , Miocardite/genética , Adulto , Criança , Eritroceratodermia Variável/complicações , Eritroceratodermia Variável/patologia , Feminino , Mutação em Linhagem Germinativa/genética , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/patologia , Heterozigoto , Humanos , Masculino , Miocardite/complicações , Miocardite/patologia , IrmãosRESUMO
We report a 48 -year-old woman witherythrokeratoderma variabilis, which is a rarehereditary disorder of keratinization, who developednew, painful, blisters within her skin lesions. Thediagnosis of herpes simplex virus infection was madebased on the clinical history and histopathologicfeatures. She was successfully treated withprophylactic valacyclovir, and her herpetic outbreakshave halted. This case serves as a reminder thateven among the most rare skin disorders, commonsecondary complications may be easily overlooked.
Assuntos
Eritroceratodermia Variável/complicações , Dermatoses Faciais/complicações , Herpes Simples/complicações , Abdome , Aciclovir/análogos & derivados , Aciclovir/uso terapêutico , Antivirais/uso terapêutico , Braço , Dermatoses Faciais/diagnóstico , Dermatoses Faciais/tratamento farmacológico , Dermatoses Faciais/patologia , Feminino , Herpes Simples/diagnóstico , Herpes Simples/tratamento farmacológico , Herpes Simples/patologia , Humanos , Perna (Membro) , Pessoa de Meia-Idade , Simplexvirus , Parede Torácica , Valaciclovir , Valina/análogos & derivados , Valina/uso terapêuticoRESUMO
We report the first case report indicating that locoregional radiotherapy provide acceptable early and late toxicities in patient with erythrokeratodermia variabilis after 2 years of follow-up. However, preclinical data showing radiation-induced tumor genesis in case of deficiency of some connexins point out the need of a careful surveillance of these patients.
