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Leila H. Shayegan BA MD Candidate Maria C. Garzon MD Kimberly D. Morel MD Rachel Borlack MD Patricia M. Vuguin MD Kara G. Margolis MD Yesim Y. Demirdag MD Elaine M. Pereira MD Christine T. Lauren MD MHA 《Pediatric dermatology》2020,37(4):695-697
We report a case of a newly recognized primary immunodeficiency due to biallelic mutations in CARMIL2 manifesting as an actinic prurigo-like photodermatitis, allergic diathesis and recurrent infections in a child. We present this case to highlight a rare phenotype seen in this T-cell immunodeficiency and provide an overview of other dermatologic manifestations among published reports of this condition. 相似文献
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Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes
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Nicole Knöpfel MD Lucero Noguera‐Morel MD Angela Hernández‐Martin MD Adela García‐Martin PhD Marta García PhD Ángeles Mencía PhD Rocío Maseda Pedrero MD Raúl de Lucas MD Maria José Escámez PhD Antonio Torrelo MD 《Pediatric dermatology》2018,35(2):e94-e98
Dystrophic epidermolysis bullosa is a rare blistering condition caused by mutations in the COL7A1 gene. Different clinical variants have been described, with dominant and recessive inheritance, but no consistent findings have been elucidated to establish a genotype–phenotype correlation. We present three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene that developed different clinical forms of dystrophic epidermolysis bullosa—epidermolysis bullosa pruriginosa and mild recessive non‐Hallopeau–Siemens—raising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease. 相似文献
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Marta Feito‐Rodríguez M.D. Lucero Noguera‐Morel M.D. José Casas‐Rivero M.D. Ph.D. Julio García‐Rodríguez M.D. Raul de Lucas‐Laguna M.D. 《Pediatric dermatology》2014,31(1):95-98
Group A beta‐hemolytic streptococcus cause most vulvovaginal infections seen in prepubertal girls. Bacterial vaginosis is a common cause of abnormal vaginal discharge in women of childbearing age but is rare in children. Data are insufficient to suggest that bacterial vaginosis is an exclusively sexually transmitted disease. We report a 10‐year‐old girl with no history or suspicion of sexual abuse who developed bacterial vaginosis in the context of a lichen sclerosus being treated with tacrolimus ointment. Secondary bacterial infection in lichen sclerosus is uncommon. We speculate that the immunosuppressive effect of topical tacrolimus could have triggered the infection. 相似文献
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François Roubille Benoît Lattuca David Busseuil Florence Leclercq Jean-Marc Davy Eric Rhéaume Jean-Claude Tardif 《Medical hypotheses》2013
Inotropic treatment remains the cornerstone for cardiogenic shock, an emergency that requires immediate resuscitative therapy before shock irreversibly damages vital organs. Although the sympathomimetic drug dobutamine is the most widely-used inotropic drug worldwide, it has several side effects including sinus tachycardia. Dobutamine partly restores systolic heart failure (HF); however, it increases the heart rate (HR) which counterbalances the beneficial effects. Ivabradine, a new selective If inhibitor, provides specific HR reduction and is indicated in stable coronary artery disease and in stable chronic HF with left ventricular dysfunction. Despite scarce data indicating beneficial effects of ivabradine in sinus tachycardia in various clinical settings, this drug remains contraindicated in acute HF. We propose that ivabradine could help to prevent the dobutamine-induced side effects, and that their combination in clinical practice could lead to pure inotropic effects, useful for the management of cardiogenic shock. 相似文献
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