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Indian Journal of Pediatrics Sep 2023Systemic lupus erythematosus (SLE) is a systemic autoimmune disease, that mainly affects skin, joints and kidneys but can affect any organ in the body. It is... (Review)
Review
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease, that mainly affects skin, joints and kidneys but can affect any organ in the body. It is characterized by presence of multiple autoantibodies like ANA, antibodies to dsDNA and RNA associated proteins. The major mechanism leading to tissue damage includes immune complex mediated complement activation, interferon alpha release by plasmacytoid dendritic cells, NETosis by neutrophils as well as defects in monocytes leading to poor clearance of cellular debris and direct cellular dysfunction mediated by antibodies. A child can present with pyrexia of unknown origin, immune mediated cytopenias, malar rash, oral ulcers, serositis, glomerulonephritis or nervous system dysfunction. As renal disease has a bearing on the long term impact, all children should have urine exam and blood pressure measurement done to rule out renal disease. The treatment varies depending on the severity and organs involved. In life or organ threatening situations, pulse methylprednisolone is used. Hydroxychloroquine, Mycophenolate mofetil, Azathioprine and Cyclophosphamide are the commonly used drugs in SLE. Over the years the prognosis of SLE has improved probably due to early diagnosis and better use of immunosuppressive treatment, regular follow up and treatment of co-morbidities. The 10-year survival now approaches 90% and with advent of new and targeted therapy it is hoped that the morbidity and organ damage can also be minimized.
PubMed: 37713101
DOI: 10.1007/s12098-023-04833-0 -
Journal of Clinical Lipidology Feb 2024Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare but treatable lipid storage disease resulting from mutations in the CYP27A1 gene.
BACKGROUND
Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare but treatable lipid storage disease resulting from mutations in the CYP27A1 gene.
PURPOSE
The study aims to evaluate patients diagnosed with CTX and reveal new information, especially about the signs of CTX and patients' response to the treatment.
METHODS
The study was conducted retrospectively in 12 definitively diagnosed CTX patients. The patients' clinical, laboratory, imaging, genetic findings, and CDCA (chenodeoxycholic acid) treatment results were analyzed.
RESULTS
The median age at diagnosis for the patients was 16.5 years (minimum-maximum: 7-32). Juvenile cataracts, detected in more than 90% (11/12) of the patients, were the most common clinical finding. Malar rash, not previously reported in the literature for CTX, was present in 75% (9/12) of the patients. Hand tremors, the first neurological symptom, occurred in adolescence and were the initial symptom of the disease in five patients. Hand tremors were present in 83.3% (10/12) of the patients. Hand tremors (in 5 patients) and malar rash (in 2 patients) were clinical findings with full recovery due to the CDCA treatment.
CONCLUSION
The study defines the malar rash finding, which has not been reported in the literature before, as a possible new clinical finding in CTX disease, attributed to its partial or full recovery with CDCA treatment. Additionally, as a novelty in the literature, our study highlights the full recovery of neurological findings, such as hand tremors, in CTX. Patients presenting with hand tremors and malar rash, especially in adolescence, should undergo CTX investigation for early diagnosis and treatment.
PubMed: 38461119
DOI: 10.1016/j.jacl.2024.02.009 -
Indian Dermatology Online Journal 2024
PubMed: 38845661
DOI: 10.4103/idoj.idoj_556_23 -
Cureus Dec 2023Taxanes, in combination with platinum-based drugs, are considered the initial treatment option for certain types of cancer, including ovarian cancer. Here, we report the...
Taxanes, in combination with platinum-based drugs, are considered the initial treatment option for certain types of cancer, including ovarian cancer. Here, we report the case of a 59-year-old woman who developed a malar rash on her face, a maculopapular rash on her forearms, and bluish discoloration on her fingers immediately following the end of the third cycle of chemotherapy. After discontinuing paclitaxel and using oral and topical steroids for rash and diltiazem and topical minoxidil for the treatment of Raynaud's phenomenon, the symptoms completely resolved. While taxanes are known to cause drug-induced lupus, there has never been any information on taxanes causing isolated Raynaud's phenomenon. This is the first case report that suggests paclitaxel-induced Raynaud's phenomenon along with paclitaxel-induced lupus.
PubMed: 38259408
DOI: 10.7759/cureus.50974 -
Clinical Rheumatology Jun 2024Moyamoya syndrome (MMS) is a rare, chronic, progressive cerebrovascular disorder characterized by stenosis at the apices of the intracranial internal carotid arteries,... (Review)
Review
Moyamoya syndrome (MMS) is a rare, chronic, progressive cerebrovascular disorder characterized by stenosis at the apices of the intracranial internal carotid arteries, including the proximal anterior cerebral arteries and middle cerebral arteries. Cerebral angiography images are used for detection through measurement. Systemic lupus erythematosus (SLE) is an autoimmune disease that can cause multisystemic involvement. The coexistence of SLE and MMS has been rarely reported in the literature. A 46-year-old male patient with malar rash, Raynaud phenomenon presented to the hospital with a complaint of weakness in the left lower extremity, which began 3 days before the date of the visit. In the diffusion magnetic resonance imaging, multiple diffusion restrictions were observed in the right frontal region. The patient underwent MR angiography, revealing stenosis in the terminal and supraclinoid segments of the right internal carotid artery, which made us consider moyamoya disease. This patient, with a malar rash and Raynaud's, a positive antibody profile, was diagnosed as a male with SLE accompanied by MMS.
Topics: Humans; Male; Moyamoya Disease; Middle Aged; Lupus Erythematosus, Systemic; Magnetic Resonance Angiography; Raynaud Disease; Cerebral Angiography; Carotid Artery, Internal; Diffusion Magnetic Resonance Imaging
PubMed: 38625644
DOI: 10.1007/s10067-024-06960-1 -
Clinical Rheumatology Dec 2023The occurrence of anti-Ku antibody-positive idiopathic inflammatory myopathy (IIM) in pediatric patients is rare, and therefore, the clinical phenotypes of this disease... (Review)
Review
The occurrence of anti-Ku antibody-positive idiopathic inflammatory myopathy (IIM) in pediatric patients is rare, and therefore, the clinical phenotypes of this disease in such patients remain obscure. We herein report two cases of Japanese female pediatric patients with anti-Ku antibody-positive IIM. One case was unique in that it was complicated by pericardial effusion. Another patient had severe and refractory myositis with immune-mediated necrotizing myopathy. In addition, we reviewed literatures involving a total of 11 pediatric patients with anti-Ku antibody-positive IIM. The median age of the patients was 11 years, and most of them were girls. Skin rash, including erythematous nodules, malar rash, multiple brownish plaques, butterfly rash, heliotrope rash, periorbital edema, and Gottron's papules, was observed in 54.5% of the patients, scleroderma in 81.8%, and skin ulcer in 18.2%. Their serum creatine kinase level ranged from 504 to 10,840 IU/L. Furthermore, joint involvement was observed in 91% of the patients, interstitial lung disease in 18.2%, and esophageal involvement in 9.1%. All patients were treated with corticosteroids in combination with immunosuppressants. Pediatric patients with anti-Ku antibody-positive IIM had unique characteristics compared to adult patients. Skin manifestations, joint involvement and elevation of serum CK levels were more common in children than in adults. In contrast, ILD and esophageal involvement were less common in children than in adults. Although pediatric cases of anti-Ku antibody-positive IIM are rare, patients with IIM need to be tested for the presence of anti-Ku antibodies.
Topics: Adult; Humans; Child; Female; Male; Autoantibodies; Retrospective Studies; Myositis; Autoimmune Diseases; Scleroderma, Systemic; Lung Diseases, Interstitial
PubMed: 37393558
DOI: 10.1007/s10067-023-06687-5 -
Journal of Clinical Medicine Apr 2024Lupus erythematosus (LE) is an autoimmune inflammatory disease with complex etiology. LE may present as a systemic disorder affecting multiple organs or be limited... (Review)
Review
Lupus erythematosus (LE) is an autoimmune inflammatory disease with complex etiology. LE may present as a systemic disorder affecting multiple organs or be limited solely to the skin. Cutaneous LE (CLE) manifests with a wide range of skin lesions divided into acute, subacute and chronic subtypes. Despite classic forms of CLE, such as malar rash or discoid LE, little-known variants may occur, for instance hypertrophic LE, chilblain LE and lupus panniculitis. There are also numerous non-specific manifestations including vascular abnormalities, alopecia, pigmentation and nail abnormalities or rheumatoid nodules. Particular cutaneous manifestations correlate with disease activity and thus have great diagnostic value. However, diversity of the clinical picture and resemblance to certain entities delay making an accurate diagnosis The aim of this review is to discuss the variety of cutaneous manifestations and indicate the clinical features of particular CLE types which facilitate differential diagnosis with other dermatoses. Although in diagnostically difficult cases histopathological examination plays a key role in the differential diagnosis of LE, quick and accurate diagnosis ensures adequate therapy implementation and high quality of life for patients. Cooperation between physicians of various specialties is therefore crucial in the management of patients with uncommon and photosensitive skin lesions.
PubMed: 38673692
DOI: 10.3390/jcm13082419 -
Arthritis Care & Research Jul 2023Ultraviolet (UV) radiation exposure is associated with photosensitivity, rashes, and flares in systemic lupus erythematosus (SLE). However, it is not known whether UV...
OBJECTIVE
Ultraviolet (UV) radiation exposure is associated with photosensitivity, rashes, and flares in systemic lupus erythematosus (SLE). However, it is not known whether UV exposure increases risk of developing SLE. We examined UV exposure and SLE risk in a large prospective cohort.
METHODS
The Nurses' Health Study (NHS) enrolled 121,700 US female nurses in 1976; in 1989, 116,429 nurses were enrolled in NHS II. Biennial questionnaires collected lifestyle and medical data. Self-reported incident SLE by American College of Rheumatology classification criteria was confirmed by medical record review. Ambient UV exposure was estimated by linking geocoded residential addresses with a spatiotemporal UV exposure model. Cox models estimated hazard ratios (HRs) and 95% confidence intervals (95% CIs) across tertiles of time-varying cumulative average UV. We examined SLE risk overall and stratified by anti-Ro/La antibodies and by cutaneous manifestations from 1976 through 2014 (NHS)/2015 (NHS II), adjusting for confounders.
RESULTS
With 6,054,665 person-years of exposure, we identified 297 incident SLE cases; the mean ± SD age at diagnosis was 49.8 ± 10.6 years. At diagnosis, 16.8% of women had +anti-Ro/La, and 80% had either +anti-Ro/La or ≥1 cutaneous manifestation. Compared with the lowest UV exposure tertile, risk of overall SLE was increased, but not significantly (HR 1.28 [95%CI 0.96-1.70]). Women in the highest tertile had increased risk of malar rash (HR 1.62 [95% CI 1.04-2.52]).
CONCLUSION
Cumulative UV exposure was not associated with SLE risk. Higher UV exposure, however, was associated with increased risk of malar rash at presentation. UV exposure may trigger SLE onset with malar rash among susceptible women.
Topics: Female; Humans; Adult; Middle Aged; Risk Factors; Prospective Studies; Lupus Erythematosus, Systemic; Nurses
PubMed: 35724272
DOI: 10.1002/acr.24974 -
Mediterranean Journal of Rheumatology Mar 2024Cutaneous involvement is common in systemic lupus erythematosus (SLE) patients and may be essential to the disease activity. This study aimed to describe cutaneous...
BACKGROUND
Cutaneous involvement is common in systemic lupus erythematosus (SLE) patients and may be essential to the disease activity. This study aimed to describe cutaneous manifestations spectrum and determine the association of cutaneous lesions with the disease activity and systemic involvement among SLE patients in Malang, Indonesia.
METHODS
A cross-sectional study was conducted using 54 SLE patients from rheumatology outpatient clinic at Saiful Anwar General Hospital Malang, Indonesia. Cutaneous features were classified according to Gilliam and Sontheimer classification of cutaneous lupus. Disease activity and clinical manifestations were documented according to Mexican-SLE disease activity index (Mex-SLEDAI).
RESULTS
Among 54 subjects, 50% of the patients had cutaneous manifestations. Subacute cutaneous lupus erythematosus (SCLE) was observed in 11.1% of patients, and malar rash in 20.4%. Subjects with cutaneous lesions had significantly higher Mex-SLEDAI scores, especially those who had SCLE (p<0.001), malar rash (p=0.002), alopecia (p=0.002), and photosensitivity (p=0.032). Six patients (11.1%) had skin infections with higher disease activity (9[8-11]vs.2[0-4];p<0.001). SCLE was significantly associated with malar rash (OR 11.7[1.8-76.5]), vasculitis (OR 43.0[4.1-445.6]), and fatigue (OR 15.0[2.1-108.8]). Malar rash was associated with photosensitivity (OR 8.4[1.6-44.0]), while oral or nasal ulcer was associated with fatigue (OR 8.6 [1.4-54.6]). Vasculitis (OR 5.9[1.0-35.1]) and nephritis (OR 11.7 [1.8-76.5]) were associated with the presence of skin infection.
CONCLUSION
SCLE and malar rash are the most common cutaneous lesions among subjects. Subjects with cutaneous lesions have relatively higher disease activity. Several skin lesions are also associated with SLE patients' systemic manifestations.
PubMed: 38736948
DOI: 10.31138/mjr.200423.aos