0
selected
-
1.
AIRE Gene Mutation Presenting at Age 2 Years With Autoimmune Retinopathy and Steroid-Responsive Acute Liver Failure: A Case Report and Literature Review.
Sakaguchi, H, Mizuochi, T, Haruta, M, Takase, R, Yoshida, S, Yamashita, Y, Nishikomori, R
Frontiers in immunology. 2021;:687280
Abstract
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disorder caused by mutation in the autoimmune regulator (AIRE) gene. Patients usually are diagnosed at ages between 5 and 15 years when they show 3 or more manifestations, most typically mucocutaneous candidiasis, Addison's disease, and hypoparathyroidism. APECED-associated hepatitis (APAH) develops in only 10% to 40% of patients, with severity varying from subclinical chronic active hepatitis to potentially fatal acute liver failure (ALF). Ocular abnormalities are fairly common, most often keratopathy but sometimes retinopathy. Here we report a 2-year-old Japanese girl with an AIRE gene mutation who developed APAH with ALF, preceded by autoimmune retinopathy associated with anti-recoverin antibody before major symptoms suggested a diagnosis of APECED. Intravenous pulse methylprednisolone therapy followed by a corticosteroid combined with azathioprine treatment resolved ALF and achieved control of APAH. To our knowledge, our patient is the youngest reported to have ALF resulting from an AIRE gene mutation. Pulse methylprednisolone induction therapy followed by treatment with corticosteroid plus azathioprine may well be effective in other children with APAH and AIRE gene mutations.
-
2.
Hard Metal Lung Disease with Favorable Response to Corticosteroid Treatment: A Case Report and Literature Review.
Chiba, Y, Kido, T, Tahara, M, Oda, K, Noguchi, S, Kawanami, T, Yokoyama, M, Yatera, K
The Tohoku journal of experimental medicine. 2019;(1):51-58
Abstract
Hard metal lung disease (HMLD) is a pneumoconiosis caused by occupational exposure to hard metals such as tungsten carbide and cobalt, but the treatment strategies for HMLD have not been well established. A 68-year-old Japanese man with occupational history as a grinder of hard metals for 18 years referred to our hospital because of dry cough and dyspnea. A chest computed tomography (CT) on admission revealed centrilobular micronodules, ground-glass opacities, and reticular opacities in the peripheral zone of both lungs. Mineralogic analyses of lung tissues detected components of hard metals, such as tungsten, titanium and iron, and the same metals were also detected in the sample of the dust of his workplace. Thus, the patient was diagnosed as having HMLD based on occupational exposure history and radiologic and mineralogic analyses of the lung. Corticosteroid therapy was initiated, which resulted in partial improvements in his symptoms, radiological and pulmonary functional findings. In a review of the 18 case reports of HMLD treated with corticosteroids, including our case, the majority of patients (77.8%) showed favorable responses to corticosteroid treatment. Furthermore, the presence of fibrotic changes, such as reticular opacity, in radiological examinations was associated with the resistance to corticosteroids. In conclusion, the majority of patients with HMLD are expected to favorable response to corticosteroid treatment, whereas chest CT findings such as fibrotic changes may be predictive of the resistance of corticosteroid treatment. Lastly, proper prevention of hard metal exposure is most important as the first step.
-
3.
Blistering rash in an older man.
Ward, NJ, MacVane, CZ
The Journal of family practice. 2013;(3):151-3
Abstract
The patient kept hoping that the rash would go away on its own, but as time went by the rash spread and the pain became intolerable.
-
4.
Skin conditions: new drugs for managing skin disorders.
Nguyen, T, Zuniga, R
FP essentials. 2013;:11-6
Abstract
New drugs are available for managing several common skin disorders. For psoriasis, topical corticosteroids remain the first-line therapy, but topical vitamin D3 analogs, such as calcipotriene, now have a role. They are as effective as medium-potency topical steroids but without steroid side effects, though they can induce hypercalcemia if the dose exceeds 100 g/week. For more severe cases, methotrexate has been widely used, but other drugs now also are prescribed. They include calcineurin inhibitors, such as cyclosporine, and more recently, biologic agents, such as tumor necrosis factor inhibitors. For children and pregnant women, in whom the previously discussed drugs are not appropriate, narrowband UV-B light often is the first-line treatment. For eczema, patients requiring steroid-sparing topical drugs can be treated with calcineurin inhibitors (ie, pimecrolimus or tacrolimus); between the 2, tacrolimus is the first choice for adults and children older than 2 years. When systemic management is needed, oral calcineurin inhibitors (eg, cyclosporine) are appropriate, though oral steroids often are needed for severe cases. The need for systemic management can sometimes be delayed with use of diluted bleach baths. For acne vulgaris, standard treatments with topical benzoyl peroxide and topical or systemic antibiotics are used widely, as are oral contraceptives, but oral isotretinoin is the most effective treatment.
-
5.
The unwelcome visitor.
Teng, GG, Tong, CY, How, CH, Goh, LH
Singapore medical journal. 2012;(8):508-11; quiz 512
Abstract
Gout is a chronic, progressive inflammatory disease with intermittent arthritic flares, which should not be regarded as a minor inconvenience or nuisance. It can be effectively controlled when the patient's serum urate level is reduced to less than 360 μmol/l (6 mg/dL) by consistent use of urate-lowering pharmacotherapy. Colchicine prophylaxis for gouty flares during titration of urate-lowering therapy has been underused. Holistic long-term management of gout must encompass patient education, evidence-based dietary advice, screening and aggressive treatment of comorbidities such as hypertension, diabetes mellitus, dyslipidaemia and renal impairment. Acute therapies for recurrent attacks with non-steroidal anti-inflammatory drugs, colchicine and/or corticosteroids should be used judiciously, especially in the elderly, due to the risk of toxicities. With appreciation of the underlying pathogenesis and artful use of the limited drug options, control of gout can be effectively achieved, bringing tremendous satisfaction to the patient and doctor.
-
6.
Additive contribution of multiple factors in the development of pneumatosis intestinalis: a case report and review of the literature.
Saito, M, Tanikawa, A, Nakasute, K, Tanaka, M, Nishikawa, T
Clinical rheumatology. 2007;(4):601-3
Abstract
We describe a 53-year-old patient with dermatomyositis, who developed pneumatosis intestinalis (PI) accompanied by pneumoperitoneum, pneumoretroperitoneum, pneumomediastinum, and subcutaneous emphysema of the neck. The development of PI in our patient was possibly attributed to the effect of factors such as dermatomyositis, corticosteroids, methotrexate, and alpha-glucosidase inhibitor (AGI). The coexistence of multiple factors associated with PI might enhance the risk of developing PI, even though each of them alone is not sufficient to induce it. In particular, the use of AGIs for patients treated with immunosuppressive agents such as corticosteroids requires evaluation.
-
7.
Deterioration of giant cell arteritis with corticosteroid therapy.
Staunton, H, Stafford, F, Leader, M, O'Riordain, D
Archives of neurology. 2000;(4):581-4
Abstract
BACKGROUND Failure of response of giant cell arteritis (GCA) to corticosteroid therapy has invariably been attributed to the delay in diagnosing the disease or the use of inadequate corticosteroid dosage. Following our observation of progressive deterioration following the introduction of prednisolone use in a patient, we examined the possibility that worsening of the condition might be due to corticosteroid therapy rather than coincidence. OBJECTIVE To determine whether corticosteroid therapy may exacerbate GCA. DESLGN Case report and an analysis of similar cases reported in the medical literature. PATIENT A 64-year-old man had a 3-month history of headache, night sweats, malaise and general weakness, and anorexia and weight loss and a more recent history of jaw claudication, dysphagia, and hoarseness. Clinical findings included prominent temporal arteries with absent pulsation, abnormal saccades to the right, and eyelid retraction. Laboratory findings included an elevated erythrocyte sedimentation rate and platelet count. Results of a biopsy of the temporal artery confirmed GCA. Magnetic resonance imaging scans showed ischemic cerebellar lesions and a mature infarct in the left anterior occipital, posteroparietal region. Following corticosteroid therapy commencement, the patient's condition deteriorated steadily for 5 days with clinical signs suggestive of an evolving vertebrobasilar stroke. Following treatment with high-dose intravenous dexamethasone sodium phosphate and heparin sodium, his symptoms improved. DATA SOURCES The review included analysis of autopsy-based reports in which clinical details are provided and clinical reports in which major visual or cerebral complications are described. Significant complications occurred in many cases shortly following the introduction of corticosteroid therapy. In many of these cases, the symptoms indicated that GCA had been present for a significant period prior to corticosteroid therapy. CONCLUSIONS Progressively evolving occlusive strokes may occur following corticosteroid therapy in patients with GCA. In cerebrovascular complications, vascular occlusion occurs at sites of active vasculitis, usually within the vertebrobasilar system. It is not certain that the worsening of the condition following corticosteroid therapy is always coincidental, and an alternative possibility, namely a functional relationship between the initiation of corticosteroid therapy and clinical deterioration, should be borne in mind.