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1.
BMJ Case Rep ; 20152015 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-26452409

RESUMO

We present a case of a preterm infant of 28 weeks' gestation with unique cutaneous lesions characteristic of a congenital herpes simplex virus (HSV) type 1 infection. The infant was prematurely delivered due to intractable labour. The mother had no history or clinical signs of genital infection before or during pregnancy. The infant's skin lesions were described as rough white-yellow plaques; a skin biopsy demonstrated calcified plaques and absent epidermis. HSV type 1 was later determined using PCR on the infant's skin biopsy and cerebral spinal fluid as well as the mother's vaginal swab and the placenta. Calcifications have already been described by Allee et al, alongside a diagnosis of HSV type 2. As is well known, the morbidity and mortality of congenital herpes infections are very high.


Assuntos
Herpes Simples/congênito , Herpes Simples/diagnóstico , Lactente Extremamente Prematuro , Pele/patologia , Aciclovir/uso terapêutico , Antivirais/uso terapêutico , Eritema/etiologia , Herpes Simples/tratamento farmacológico , Herpesvirus Humano 1/isolamento & purificação , Humanos , Recém-Nascido , Ossos da Perna/diagnóstico por imagem , Masculino , Radiografia
2.
J Pediatr Genet ; 2(2): 91-6, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27625845

RESUMO

Hyper-immunoglobulin E syndrome (HIES) is a rare immunologic disorder. This syndrome is caused by mutations in signal transducer and activator of transcription 3 gene. The described case report showed clinical HIES features such as recurrent bacterial pneumonia, lung cysts, characteristic facial features and a newborn dermatitis. We found a clinical features score of 35 and a positive family history, which, together, made a HIES diagnosis very probable. During DNA analysis, a new, formerly unknown, 1067C→G (p.P356R) mutation, with reference sequence NM_139276.2, was found in the DNA binding site of the STAT3 gene. Both the child and his mother were affected. Thus, this family is affected by the autosomal dominant, HIES. This case report reveals a formerly unknown mutation, 1067C→G (p.P356R) in this gene.

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