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International Journal of Rheumatic... Jun 2024Mixed connective tissue disease (MCTD) is a rare entity in children. There is a paucity of studies on juvenile-onset MCTD (jMCTD) worldwide especially from Southeast...
INTRODUCTION
Mixed connective tissue disease (MCTD) is a rare entity in children. There is a paucity of studies on juvenile-onset MCTD (jMCTD) worldwide especially from Southeast Asia.
OBJECTIVES
To describe clinical and laboratory features of jMCTD diagnosed at pediatric rheumatology centers across India.
METHODS
A predesigned detailed case proforma in an excel format was prepared and was sent to all the Pediatric Rheumatology centers in India. Eleven centers provided the clinical and laboratory data of their jMCTD patients, which was then compiled and analyzed in detail.
RESULTS
Thirty-one jMCTD patients from 11 centers were included in the study. Our cohort had 27 females and four male patients over 12 months (August 2021 to July 2022). The median age at presentation was 12 years (range 5-18 years) and the median duration of symptoms was 24 months at diagnosis (range 2-96 months). The common features included arthritis (90%), malar rash (70.9%), and Raynaud's phenomenon (70.9%). At a mean follow-up of 43 months (range 1-168 months), 45% of them were in remission. There were two deaths reported, due to macrophage activation syndrome and sepsis respectively.
CONCLUSION
We present the largest multicenter experience on jMCTD from the Indian subcontinent. The study's findings serve as a crucial stepping stone toward unraveling the complexities of jMCTD and improving patient care and management strategies.
Topics: Humans; Child; Male; Female; Mixed Connective Tissue Disease; India; Adolescent; Child, Preschool; Treatment Outcome; Age of Onset; Immunosuppressive Agents; Antirheumatic Agents; Retrospective Studies; Time Factors; Remission Induction
PubMed: 38925615
DOI: 10.1111/1756-185X.15243 -
Indian Dermatology Online Journal 2024
PubMed: 38845661
DOI: 10.4103/idoj.idoj_556_23 -
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 -
Rheumatology International Jul 2024This study aims to analyze the clinical and immunologic features of SLE in Jordan, while also investigating the impact of age and gender on disease presentation. The... (Observational Study)
Observational Study
This study aims to analyze the clinical and immunologic features of SLE in Jordan, while also investigating the impact of age and gender on disease presentation. The study included 275 patients diagnosed with SLE. Data were collected through meticulous patient interviews and thorough examination of patient hospital records. The cohort exhibited a mean age of 36.8 ± 12.9 years, with an average disease duration of 7.0 ± 7.8 years. The mean age at diagnosis was 29.9 ± 12.1 years, and the female to male ratio was 7.8:1. The most frequently observed symptoms were arthralgia (90.2%), fatigue (80.7%), hematologic manifestations (62%), photosensitivity (60.7%), Raynaud's phenomenon (53.5%), and malar rash (50.9%). The frequencies of various autoantibodies were as follows: ANA (96.7%), anti-dsDNA (39.6%), anti-SSA/Ro (32.8%), anti-Sm (21.8%), anti-U1-RNP (20.6%), and anti-SSB/La (15.5%). Male patients tended to receive a diagnosis at a younger age and exhibited a higher likelihood of experiencing severe manifestations compared to females. Additionally, juvenile onset patients demonstrated an increased likelihood of fever, photosensitivity, myositis, and anti-dsDNA autoantibodies, while adult onset patients were more predisposed to having anti-Ro, anti-La, and RF autoantibodies. This study reveals that the most prevalent manifestations of SLE in the Jordanian cohort encompassed arthralgia, fatigue, and hematologic manifestations. The prevalence of alopecia and Raynaud's phenomenon exceeded that observed in other published cohorts, while arthritis and discoid rash were less frequently encountered. The study highlights that males are more susceptible to developing severe manifestations of SLE compared to females.
Topics: Humans; Male; Female; Adult; Lupus Erythematosus, Systemic; Middle Aged; Retrospective Studies; Young Adult; Sex Factors; Jordan; Autoantibodies; Adolescent; Raynaud Disease; Arthralgia; Antibodies, Antinuclear; Fatigue; Age Factors
PubMed: 38717538
DOI: 10.1007/s00296-024-05592-7 -
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 -
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 -
Journal of Clinical Lipidology 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 chenodeoxycholic acid (CDCA) 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.
Topics: Humans; Xanthomatosis, Cerebrotendinous; Chenodeoxycholic Acid; Adolescent; Male; Female; Tremor; Adult; Child; Young Adult; Retrospective Studies; Exanthema; Hand; Cholestanetriol 26-Monooxygenase
PubMed: 38461119
DOI: 10.1016/j.jacl.2024.02.009 -
Dental and Medical Problems 2024Systemic lupus erythematosus (SLE) is an autoimmune disease with various oral manifestations, including ulceration, white keratotic plaques, oral discoid lupus...
Systemic lupus erythematosus (SLE) is an autoimmune disease with various oral manifestations, including ulceration, white keratotic plaques, oral discoid lupus erythematosus, oral lichen planus (OLP)-like lesions, non-specific erythema, purpura, petechiae, and cheilitis, which resemble lesions of other systemic diseases. Recognizing the oral manifestation of SLE is essential for comprehensive patient management. This study reports 4 cases of SLE with various oral lesions, underlying conditions and diagnostic methods.In September 2019, 2 adult SLE patients and 2 juvenile SLE patients were consulted at the Oral Medicine Clinic. The assessment of systemic diseases was conducted by the Internal Medicine and Pediatrics resident, whereas the Oral Medicine resident performed the intraoral examinations. The medical history, clinical findings and laboratory results were analyzed to establish the diagnosis.The first patient was a 38-year-old female presenting with multiple white keratotic plaques throughout the mucosa, an OLP-like lesion on the right buccal mucosa, petechiae on the hard palate, and petechiae and purpura on the upper and lower extremities. The second case was a 24-year-old female with a malar rash and multiple ulcerations on the vermilion zone, an OLP-like lesion on the left buccal mucosa, and a palatal ulcer. The third and fourth cases were 16-year-old females with a prominent butterfly rash. The patients presented with acute pseudomembranous candidiasis, an aphthous-like ulcer and keratotic plaques. They received antimicrobial therapy for the intraoral lesions and showed promising results.The oral lesions in adultand juvenile-onset SLE patients varied depending on the disease severity and treatment received.
Topics: Adult; Female; Humans; Child; Young Adult; Adolescent; Ulcer; Lupus Erythematosus, Systemic; Mouth Mucosa; Purpura; Exanthema
PubMed: 38441309
DOI: 10.17219/dmp/132242 -
JAAD Case Reports Mar 2024
PubMed: 38379874
DOI: 10.1016/j.jdcr.2023.12.020 -
Annals of Medicine and Surgery (2012) Feb 2024Epidermodysplasia verruciformis is a rare autosomal recessive genodermatosis. Clinical manifestations might be helpful in the diagnosis of this disease. However, the...
INTRODUCTION AND IMPORTANCE
Epidermodysplasia verruciformis is a rare autosomal recessive genodermatosis. Clinical manifestations might be helpful in the diagnosis of this disease. However, the final diagnosis is made after a genetic and histological study. Acquired epidermodysplasia verruciformis is a form of epidermodysplasia verruciformis described in patients with compromised cell-mediated immunity.
CASE PRESENTATION
A 42-year-old female with a history of a pain and itch on the soles and palms started a year ago. There were multiple flat papules on the dorsal hands, scarring alopecia, malar rash, oral ulcers, Raynaud phenomenon, and palpable purpura. A histological examination confirmed the diagnosis of epidermodysplasia verruciformis.
CLINICAL DISCUSSION
Epidermodysplasia verruciformis is an uncommon disease that affects the immune system. The coexistence of systemic lupus erythematosus and epidermodysplasia verruciformis is rarely reported in the medical literature. This paper reports a rare case in which these two diseases have coexisted.
CONCLUSION
This publication aims to document this rare case and highlight the ideal criteria in diagnosing and treating epidermodysplasia verruciformis.
PubMed: 38333298
DOI: 10.1097/MS9.0000000000001602