RESUMO
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare immune deficiency with a broad clinical presentation. IPEX syndrome causes dysfunctional regulatory T cells, increasing the risk of autoimmune diseases. In this case report, we describe a 7-year-old boy with lymphocytic interstitial pneumonia and bullous pemphigoid who was recently diagnosed with IPEX syndrome.
Assuntos
Doenças Pulmonares Intersticiais , Penfigoide Bolhoso , Criança , Diabetes Mellitus Tipo 1/congênito , Diarreia , Fatores de Transcrição Forkhead , Doenças Genéticas Ligadas ao Cromossomo X , Humanos , Doenças do Sistema Imunitário/congênito , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/genética , Masculino , Penfigoide Bolhoso/diagnóstico , Penfigoide Bolhoso/tratamento farmacológico , Penfigoide Bolhoso/genética , Linfócitos T ReguladoresRESUMO
This is a case report of a 15-year-old girl, who developed kerion Celsi on the vulva after contact with a pet rodent. The skin was extremely painful, highly red, severely inflamed and oozing, mimicking a bacterial abscess. The patient's general condition was barely affected. PCR identified Trichophyton mentagrophytes, successfully treated with terbinafin 250 mg for 12 weeks. The majority of incidents in 11 published cases were caused by T. mentagrophytes, sensitive to terbinafin. Knowledge of this rare inflammatory dermatophytosis may cause the surgeon to abstain from surgery and to "keep calm and kerion".
Assuntos
Antifúngicos , Tinha do Couro Cabeludo , Antifúngicos/uso terapêutico , Arthrodermataceae , Feminino , Humanos , Tinha do Couro Cabeludo/diagnóstico , Tinha do Couro Cabeludo/tratamento farmacológico , Trichophyton , VulvaRESUMO
BACKGROUND: Valrubicin is a semisynthetic anthracycline developed as an anti-cancer drug able to ameliorate psoriasis and non-melanoma skin cancer (NMSC) by topical application in animal models. Valrubicin decreases cell proliferation, and induces apoptosis; however its mode of action is still unknown. Valrubicin localizes in the cytoplasm and its valerate moiety resembles diacylglycerol, an activator of protein kinase C (PKC) α, which belongs to the PKC family of cytoplasmic serine/threonine protein kinases. PKCα is observed in the suprabasal layers of normal skin and is associated to keratinocyte growth arrest and differentiation processes. In hyper-proliferative skin diseases the presence of PKCα is altered. OBJECTIVE: The aim of the present study was to investigate valrubicin's mode of action in keratinocytes by studying its possible effect on PKCα activation. METHODS: PKCα's characteristic to translocate from the cytoplasm to the cellular membrane when activated was assessed by measuring the amount of PKCα in the soluble and membrane-bound protein fractions isolated from valrubicin stimulated keratinocytes and by visualizing PKCα in stimulated cells over time. Downstream signaling was investigated by measuring the amount of phosphorylated Myristoylated Alanine-rich C-kinase substrate (MARCKS) and extracellular signal-regulated kinases (ERK) 1/2 of valrubicin-stimulated keratinocytes. To investigate whether there was a direct interaction between valrubicin and PKCα, an activity assay employing purified PKCα protein was used. RESULTS: Valrubicin activates PKCα in vitro as shown by PKCα's translocation and phosphorylation of downstream signaling molecules. CONCLUSION: Valrubicin stimulates PKCα activity and downstream signaling which may contribute to its beneficial effect in psoriasis and NMSC.