- Immunological and Clinical Characteristics of Systemic Lupus Erythematosus: A Series from Morocco. [Journal Article]
- BRBiomed Res Int 2018; 2018:3139404
- Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease with a high female predominance. To date, studies about SLE in Morocco are few. This retrospective study describes the clinical and ...
Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease with a high female predominance. To date, studies about SLE in Morocco are few. This retrospective study describes the clinical and immunological features in a series of 50 SLE Moroccan patients in University Hospital Center of Rabat, Morocco, between December 2011 and December 2013. All patients were screened for antinuclear antibodies (ANA) and anti-DNA antibodies by indirect immunofluorescence, followed by identification of anti-extractable nuclear antigen antibodies by ELISA. The female to male ratio was 6.1:1. Mean age was 31.72 years. The main clinical manifestations were arthritis (82%), mucocutaneous manifestations (80%), renal manifestations (50%), and hematological features (46%). Of the mucocutaneous features, the highest frequencies were observed in the malar rash (68%) and photosensitivity (60%). Of the hematological features, lymphopenia was most frequently observed in 30% of patients, followed by hemolytic anemia in 16% and leucopenia and thrombocytopenia in 8%. Central nervous system was involved in 10%. ANA were found in 88%, anti-DNA antibodies in 56%, and anti-Sm antibodies in 50%. Anti-SSA, anti-SSB, anti-Sm/RNP, and anti-Scl70 antibodies were detected in 38%, 10%, 48%, and 8%, respectively. Our data show that, in our patients, the main clinical and immunological features of SLE remain comparable to patients from other Arab countries.
- Autoimmune Thyroid Disease in Patients with Systemic Lupus Erythematosus: A 7-year Retrospective Study in China. [Journal Article]
- AJAm J Med Sci 2018; 356(4):344-349
- CONCLUSIONS: In our study, serositis was a risk factor for AITD, so we propose that AITD should be considered in lupus patients with serositis.
- Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis. [Journal Article]
- JCJ Clin Med Res 2018; 10(11):848-852
- Juvenile dermatomyositis (JDM) is a rare, but well recognized multi-systemic inflammatory myopathy in children defined by proximal muscle weakness and distinctive skin lesions, that if recognized and...
Juvenile dermatomyositis (JDM) is a rare, but well recognized multi-systemic inflammatory myopathy in children defined by proximal muscle weakness and distinctive skin lesions, that if recognized and treated early result in decreased morbidity and mortality. The 1975 criteria established by Bohan and Peter center around the propensity for early development of heliotrope and Gottron's lesions in combination with specific laboratory abnormalities, and are still the leading diagnostic tool. The following case demonstrates a toddler with an atypical presentation of JDM in which delayed dermatologic manifestations hindered initial diagnosis. A previously healthy 2 years and 11 months old female presented to the emergency department with a 7-month history of bilateral knee pain and progressive muscular weakness. Initial evaluation yielded a diagnosis of idiopathic rhabdomyolysis but progressive deterioration prompted additional workup. During her course of care, the patient required admission at numerous facilities for specialty procedures including swallow studies, electromyography, Nissen fundoplication with G-tube insertion, and eventual muscle biopsy, resulting in pathology clinching the diagnosis. Post-diagnosis the development of a heliotrope and malar rash ensued, 11 months after commencement of original presentation. As the Bohan and Peter criteria of 1975 can help to aid in diagnosis of JDM for textbook presentations, atypical cases such as ours suggest that revision to current diagnostic criteria needs to be established. Also, with many pediatric rheumatologists opting for less invasive methods than muscle biopsy to aid in diagnosis, in combination with the heterogeneous nature of currently tracked serous markers, the risk for delayed or missed diagnosis is amplified. As prior research has demonstrated, early diagnosis leads to better outcomes for children battling JDM. Therefore, it is vital that criteria be revised and additional research be conducted for more sensitive and specific markers to help aid in early diagnosis of JDM.
- New-onset lupus nephritis after male-to-female sex reassignment surgery. [Journal Article]
- LLupus 2018; 27(13):2166-2169
- We report an original case of a 27-year-old transgender woman who developed lupus nephritis after male-to-female sex reassignment surgery. The patient had been taking hormones to induce feminization ...
We report an original case of a 27-year-old transgender woman who developed lupus nephritis after male-to-female sex reassignment surgery. The patient had been taking hormones to induce feminization since the age of 18. She was admitted with malar "butterfly" rash, anasarca and hypertension, associated with an increase in serum creatinine (1.7 mg/dl). Renal involvement was characterized by nephritic and nephrotic syndrome. Autoantibody tests were positive for antinuclear antibodies and anti-double-stranded DNA, and complement levels were markedly reduced. Renal biopsy demonstrated diffuse proliferative glomerulonephritis and granular immune complexes deposits with a "full-house" pattern at the immunofluorescence level. The induction treatment was realized with corticosteroid and cyclophosphamide and maintenance immunosuppression phase with mycophenolate, obtaining complete remission. We speculated that lupus nephritis was induced by estrogens and antiandrogen therapy and gonadectomy. In the present case, we discuss the role of sex hormones in systemic lupus erythematosus onset and review the cases linked to transgender patients.
- Spotting Zika spots: descriptive features of the rash used in 66 published cases. [Review]
- CEClin Exp Dermatol 2018 Sep 11
- Zika virus (ZV) is an important emerging infection. Rash is a key feature, but the summative literature lacks description of the rash beyond 'maculopapular'. Our aim was to identify the cutaneous fea...
Zika virus (ZV) is an important emerging infection. Rash is a key feature, but the summative literature lacks description of the rash beyond 'maculopapular'. Our aim was to identify the cutaneous features described in the published literature. A literature search using defined terms for ZV cases reports and series was performed on the OVID, Clinical Key and University of Dundee's e-library journals databases in December 2016; a later case report was included while the paper was under review. Diagnosis in all cases was via PCR. Exclusion criteria were Zika cases without rash or omitting any description of the rash. Ocular features (conjunctivitis) were not included. In total, 42 publications with 66 cases met the criteria. The most frequent descriptive features included maculopapular (59%), lower limb petechial purpura (11%) and erythematous/red (9%). Pruritus was described in 44% and tenderness in 3%. Lesions were located on the trunk (29%), limbs (5% arms, 11% both arms and legs), face (17%) and extremities (14%) or were diffuse/generalized (12%). There was facial sparing in 3%. Other features were centrifugal spread (6%), palmar and/or plantar involvement (6%), palmoplantar desquamation (2%) and malar erythema with oedema (2%). Mucosal features included gingival bleeding (11%), oral haemorrhagic blisters (8%) and painful blisters/vesicles (4%). Oedema/swelling was described in the upper limbs (5%), lower limbs (5%) and both (3%). Mean rash duration was 6 days (range 3-11 days). The ZV exanthema is most frequently maculopapular, pruritic, sometimes with centrifugal spread from the trunk to extremities. This may include lower limb petechial purpura, palmoplantar lesions, oedema of limb extremities, and gingival bleeding or painful oral bullae. As ZV becomes more prevalent, recognition of the clinical features will enable earlier diagnosis and appropriate testing.
- [Frey's syndrome in the allergology consultation]. [Journal Article]
- RARev Alerg Mex 2018 Jul-Sep; 65(3):219-223
- CONCLUSIONS: Frey's syndrome is often mistaken with food allergy, leading to unnecessary dietary restrictions. Sweating is often absent in children owing to possible eccrine glands immaturity.
- A rare case of suicidal ideation related to Adalimumab use. [Journal Article]
- OAOpen Access Rheumatol 2018; 10:113-115
- Patients undergoing treatment with an anti-tumor necrosis factor-alpha (TNF-α) agent can, as an adverse event, develop anti-TNF-α-induced lupus (ATIL). Neuropsychiatric symptoms such as depression an...
Patients undergoing treatment with an anti-tumor necrosis factor-alpha (TNF-α) agent can, as an adverse event, develop anti-TNF-α-induced lupus (ATIL). Neuropsychiatric symptoms such as depression and suicidal ideations are not commonly seen in patients who develop ATIL. We describe a case of a 56-year-old female who developed ATIL and suicidal ideations while on Adalimumab.
- Lupus anticoagulant hypoprothrombinemia syndrome associated with systemic lupus erythematosus in children: report of two cases and systematic review of the literature. [Review]
- RIRheumatol Int 2018; 38(10):1933-1940
- We report two children with systemic lupus erythematosus (SLE) having severe bleeding manifestations and lupus anticoagulant hypoprothrombinemia syndrome (LAHPS) along with a review of published case...
We report two children with systemic lupus erythematosus (SLE) having severe bleeding manifestations and lupus anticoagulant hypoprothrombinemia syndrome (LAHPS) along with a review of published cases of childhood SLE and LAHPS. We report clinical and laboratory profile of two children diagnosed with childhood SLE and LAHPS. We also conducted literature search to identify similar published cases and a review was performed. An 8-year-old girl had presented with fever, arthralgia, alopecia, anasarca and bleeding from multiple sites. She was diagnosed to have SLE based on laboratory investigations which showed anemia, thrombocytopenia, low complements, positive anti-nuclear antibody (ANA) and double standard DNA (dsDNA) antibodies. She was also found to have prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT), positive lupus anticoagulant (LA) and low factor II levels. She was diagnosed to have SLE with LAHPS and treated with intravenous methylprednisolone, intravenous immunoglobulin and cyclophosphamide with good outcome. Patient 2 was a 7-year-old-boy who was diagnosed to have SLE when he presented with fever, anasarca, malar rash, arthritis and bleeding from skin and mucosa. Laboratory investigations revealed anemia, proteinuria, low complements, positive ANA and anti-dsDNA titre. Coagulation studies showed deranged PT and aPTT, positive LA and low factor II levels. He was diagnosed to have SLE with LAHPS and was treated with intravenous methylprednisolone and oral mycophenolate mofetil. Review of literature of cases with childhood SLE and LAHPS showed that there are 32 cases have been reported till date which have been summarized. LAHPS is an uncommonly identified cause of bleeding in patients with SLE and must be suspected while evaluating these children.
- Late-Onset Systemic Lupus Erythematosus With Lupus Nephritis in a 74-Year-Old Male: A Brief Case and Review. [Journal Article]
- CJCan J Kidney Health Dis 2018; 5:2054358118793397
- Late-onset systemic lupus erythematosus (SLE) represents a specific subgroup of SLE, and although there is no strict age cut-off, 50 years is commonly used as the minimum age for disease onset. In th...
Late-onset systemic lupus erythematosus (SLE) represents a specific subgroup of SLE, and although there is no strict age cut-off, 50 years is commonly used as the minimum age for disease onset. In this report, we present a case of a 74-year-old male with late-onset SLE and biopsy-proven lupus nephritis (LN).
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- Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. [Journal Article]
- AJAm J Hum Genet 2018 Aug 02; 103(2):221-231
- Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predispositi...
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic testing. Here, we describe biallelic mutations in TOP3A in ten individuals with prenatal-onset growth restriction and microcephaly. TOP3A encodes topoisomerase III alpha (TopIIIα), which binds to BLM as part of the BTRR complex, and promotes dissolution of double Holliday junctions arising during homologous recombination. We also identify a homozygous truncating variant in RMI1, which encodes another component of the BTRR complex, in two individuals with microcephalic dwarfism. The TOP3A mutations substantially reduce cellular levels of TopIIIα, and consequently subjects' cells demonstrate elevated rates of SCE. Unresolved DNA recombination and/or replication intermediates persist into mitosis, leading to chromosome segregation defects and genome instability that most likely explain the growth restriction seen in these subjects and in Bloom syndrome. Clinical features of mitochondrial dysfunction are evident in several individuals with biallelic TOP3A mutations, consistent with the recently reported additional function of TopIIIα in mitochondrial DNA decatenation. In summary, our findings establish TOP3A mutations as an additional cause of prenatal-onset short stature with increased cytogenetic SCEs and implicate the decatenation activity of the BTRR complex in their pathogenesis.