Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them.

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.

Systemic Lupus Erythematosus in India: A Clinico-Serological Correlation.

Background and objectives Systemic lupus erythematosus (SLE) is a chronic multisystem disorder exhibiting a wide spectrum of clinical and immunological abnormalities. Skin is the second most affected organ; lesions may precede systemic manifestations and foretell systemic involvement. Correlation between systemic manifestations and immunological profile is known but the interplay between antibodies and cutaneous findings is an area of recent interest. The present study aims to evaluate the demographic differences, pattern and prevalence of skin lesions, and correlation between cutaneous, systemic manifestations, and serological profile in SLE. Methods A total of 40 patients diagnosed with SLE, fulfilling Systemic Lupus International Collaborating Clinics (SLICC) criteria (2012), who visited the Dermatology outpatient department between April 2019 to April 2020 were recruited. Demographic details, evaluation of cutaneous lesions as lupus erythematosus (LE) specific and LE non-specific, systemic examination, hematological tests, and serological profile findings were noted. Results The mean age of onset was 23.3 years with a female to male ratio of 19:1. Common LE-specific lesions were malar rash (77.5%), photosensitivity (70%), and generalized maculopapular rash (20%). Frequently occurring LE non-specific lesions were non-scarring alopecia (60%), oral ulcers (45%), and vasculitis (12.5%). Arthritis (77.5%) and nephritis (30%) were common systemic findings. Among 14 patients with cutaneous manifestations alone, 12 (85%) had antinuclear antibody (ANA), eight (57%) had anti-double-stranded DNA (anti-dsDNA), four (28%) had anti-Smith (anti-Sm) and anti-RO/Sjögren's syndrome antigen A (Anti-RO/SSA), three (21%) had anti-histone, and one (7%) had anti-ribonucleoprotein (anti-RNP) antibodies in serum. Conclusions Lower age at onset, high prevalence of photosensitivity, anemia, and alopecia with a low prevalence of Raynaud's phenomenon suggest environmental influence in the context of the Indian population. A positive immunological profile in patients with cutaneous involvement alone gives an opportunity to the caregiver to identify the disease process much before systemic manifestations are expressed.

Persistent Palatal Ulcerations. A Potential Manifestation of Juvenile Systemic Lupus Erythematosus.

Oral ulcerations in children and adolescents is a common occurrence and affects about 20-30% of this population. This case report describes a unique and serious autoimmune condition that presented with distinct oral findings that significantly supported the differential diagnosis of Juvenile Systemic Lupus Erythematosus in a 15 year-old female. Pediatric and general dentists should familiarize themselves with the condition to facilitate diagnosis with collaborative efforts with the medical team.

Malar rash is a predictor of subclinical airway inflammation in patients with systemic lupus erythematosus: a pilot study.

BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic, auto-immune, multi-organ disease that can affect both the skin and the lungs. Malar rash is a common skin manifestation of SLE and is linked to SLE disease activity, whereas lung involvement is a generally negative prognostic factor for these patients. However, a sensitive and non-invasive screening tool for potential lung involvement in SLE patients is still not available. METHODS: This study aimed to investigate the relationship between malar rash and airway inflammation in adult SLE patients who were not known to have any lung involvement (clinical or radiologic). The study comprised of the measurement of the concentration of NO in exhaled breath or fraction of exhaled nitric oxide (FeNO) and levels were compared between those with and without malar rash. This tool is considered as a sensitive and non-invasive method that is routinely used in patients with asthma or other respiratory diseases to identify airway inflammation. RESULTS: A total of 125 patients (100 females, 25 males) were enrolled during the study period from January 2011 to December 2014. Patients with malar rash (N = 35) had a significant decrease in serum levels of C4 (p < 0.05) compared to patients without malar rash (N = 90). The mean levels of FeNO in overall patients were 36.44 ± 8.87 ppb. A statistically significant difference in FeNO50 values between patients with malar rash (43.46 ± 6.72 ppb) and without (29.43 ± 3.64 ppb) was found (p < 0.001). FeNO50 values were inversely correlated only with serum C4 (p < 0.01). However, no correlation between FeNO50 values and SLE clinical disease activity scores was found. CONCLUSIONS: The presence of a malar rash may predict sub-clinical airway inflammation in SLE patients. Further prospective studies are needed to confirm the usefulness of FeNO measurements in monitoring SLE-associated airway inflammation.

Approach to Patients with Suspected Rheumatic Disease.

Patients with rheumatic disease may present with a myriad of symptoms, from joint pain and rashes to more subtle findings, such as dry eyes and dry mouth. In this article, the authors review in detail the common presenting symptoms of rheumatic disease along with key features in the history and physical examination to help distinguish these from other disease processes.

Systemic Lupus Erythematosus for Primary Care.

Systemic lupus erythematosus is a chronic autoimmune condition with variable organ system involvement; manifestations can range from mild to potentially life threatening. Early diagnosis is important, as progression of disease can be halted. Diagnosis is made by review of signs and symptoms, imaging, and serology.

A systematic review and meta-analysis of cutaneous manifestations in late- versus early-onset systemic lupus erythematosus.

OBJECTIVES: Although systemic lupus erythematosus (SLE) most commonly occurs in reproductive-age women, some are diagnosed after the age of 50. Recognizing that greater than one-third of SLE criteria are cutaneous, we undertook a systematic review and meta-analysis to evaluate differences in cutaneous manifestations in early- and late-onset SLE patients. METHODS: We searched the literature using PubMed, CINAHL, Web of Science, and Cochrane Library. We excluded studies that did not include ACR SLE classification criteria, early-onset controls, that defined late-onset SLE as <50 years of age, or were not written in English. Two authors rated study quality using the Newcastle Ottawa Quality Scale. We used Forest plots to compare odds ratios (95% CI) of cutaneous manifestations by age. Study heterogeneity was assessed using I(2). RESULTS: Overall, 35 studies, representing 11,189 early-onset and 1727 late-onset patients with SLE, met eligibility criteria. The female:male ratio was lower in the late-onset group (5:1 versus 8:1). Most cutaneous manifestations were less prevalent in the late-onset group. In particular, malar rash [OR = 0.43 (0.35, 0.52)], photosensitivity [OR = 0.72 (0.59, 0.88)], and livedo reticularis [OR = 0.33 (0.17, 0.64)] were less common in late-onset patients. In contrast, sicca symptoms were more common [OR = 2.45 (1.91, 3.14)]. The mean Newcastle Ottawa Quality Scale score was 6.3 ± 0.5 (scale: 0-9) with high inter-rater reliability for the score (0.96). CONCLUSIONS: Overall, cutaneous manifestations are less common in late-onset SLE patients, except sicca symptoms. Future studies should investigate etiologies for this phenomenon including roles of immune senescence, environment, gender, and immunogenetics.

Prognostic implications of active discoid lupus erythematosus and malar rash at the time of diagnosis of systemic lupus erythematosus: Results from a prospective cohort study.

OBJECTIVE: Cutaneous lupus erythematosus (CLE) may have prognostic implications for systemic lupus erythematosus (SLE). We aimed to determine the impact of discoid lupus erythematosus (DLE) and malar rash on SLE disease activity. METHODS: Data were analyzed from the Toronto Lupus Clinic prospective cohort study. We compared SLE patients with active DLE or malar rash at SLE diagnosis to SLE patients who never developed CLE. Outcomes were assessed at one and five years, including Adjusted Mean Systemic Lupus Erythematosus Disease Activity Index 2000 (AMS). RESULTS: A total of 524 SLE patients (284 without CLE, 65 with DLE, and 175 with malar rash) were included. Mean AMS scores in patients without CLE at one and five years were 5.96 ± 5.06 and 4.00 ± 3.52, which did not differ significantly from scores at one (6.93 ± 5.31, p = 0.17) and five years (4.29 ± 2.62, p = 0.63) in the DLE group. In patients with malar rash, AMS scores at one (8.30 ± 6.80, p < 0.001) and five years (5.23 ± 3.06, p = 0.004) were higher than controls without CLE. CONCLUSIONS: Malar rash may be a marker of more severe systemic disease over time, while DLE has no significant impact on general SLE disease activity.

A strange lupus-like malar rash with renal involvement: an angioimmunoblastic T-cell lymphoma - A case report.

Cutaneous malar rash and kidney involvement has not previously been reported as presenting symptoms of an angioimmunoblastic T-cell lymphoma (AITL). We report a case of a woman with erythematous rash. A PET-CT revealed a lymphadenopathy and splenomegaly. An inguinal lymph node biopsy showed an AITL. There was clinical improvement after prednisone.

Lupus eritematoso sistémico en el anciano: una presentación atípica de una enfermedad común / Systemic lupus erythematosus in the elderly: An atypical presentation of a common disease

El lupus eritematoso sistémico (LES) del anciano, también llamado lupus de aparición tardía,es una enfermedad autoinmune que aparece después de los 50-60 años, con un curso clínicoy manifestaciones clínicas que difieren del LES clásico, cuya prevalencia es en personas másjóvenes, predominantemente mujeres. Se presenta, en este artículo, el caso de un pacientemasculino de 72 años con cuadro clínico de un mes de evolución de dolor en hemitóraxderecho, tipo pleurítico asociado a disnea, además de la presencia de lesiones eritematosasy descamativas en región malar y zona de exposición solar en tórax. Se descartó origeninfeccioso y neoplásico mediante imágenes diagnósticas y laboratorios y, posteriormente,se realiza perfil inmunológico que reporta ANAS positivo, Anti-DNA positivo y complementoconsumido, con evidencia de derrame pleural derecho masivo recidivante hasta la fecha.

Systemic lupus erythematosus (SLE) in the elderly, also called late-onset lupus, is an autoimmune disease that appears after 50-60 years old, with a clinical course and clinical manifestations that differ from classic SLE, with a prevalence predominantly in younger women. In this article a case of a 72 year-old male patient who, for one month, had clinical symptoms of right chest pain, associated with dyspnea and the presence of erythematous and scaly lesions on the malar area and sun exposure in the thorax. The possibilities of infectious or neoplastic origin were dismissed using diagnostic images and laboratory tests. An immunological profile was subsequently performed, reporting positive ANAS and Anti-DNA, positive, and consumed complement, with evidence of recurrent massive right pleural effusion to date.

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

Classical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in human cystathionine beta-synthase (CBS) gene. In this study, we present comprehensive clinical findings and the genetic basis of homocystinuria in a cohort of Turkish patients. Excluding some CBS mutations, detailed genotype-phenotype correlation for different CBS mutations has not been established in literature. We aimed to make clinical subgroups according to main clinical symptoms and discussed these data together with mutational analysis results from our patients. Totally, 16 different mutations were identified; twelve of which had already been reported, and four are novel (p.N93Y, p.L251P, p.D281V and c.829-2A>T). The probands were classified into three major groups according to the clinical symptoms caused by these mutations. A psychomotor delay was the most common diagnostic symptom (n=12, 46.2% neurological presentation), followed by thromboembolic events (n=6, 23.1% vascular presentation) and lens ectopia, myopia or marfanoid features (n=5, 19.2% connective tissue presentation). Pyridoxine responsiveness was 7.7%; however, with partial responsive probands, the ratio was 53.9%. In addition, five thrombophilic nucleotide changes including MTHFR c.677 C>T and c.1298 A>C, Factor V c.1691 G>A, Factor II c.20210 G>A, and SERPINE1 4G/5G were investigated to assess their contributions to the clinical spectrum. We suggest that the effect of these polymorphisms on clinical phenotype of CBS is not very clear since the distribution of thrombophilic polymorphisms does not differ among specific groups. This study provides molecular findings of 26 Turkish probands with homocystinuria and discusses the clinical presentations and putative effects of the CBS mutations.

Clinical and immunological features of 888 Brazilian systemic lupus patients from a monocentric cohort: comparison with other populations.

Epidemiological studies with systemic lupus erythematosus (SLE) patients have been reported worldwide but, until now, a large evaluation had not been performed in Brazil. Therefore, we determined the clinical and immunological features of 888 SLE patients followed at our service from 2008 to 2012. The mean age at SLE onset and the mean disease duration were 29.9 ± 9.5 years old and 14.5 ± 8.4 years, respectively. A predominance of female gender (91.9%) and Caucasian ethnicity (69.9%) were observed. Cumulative mucocutaneous manifestations (90.7%) were most commonly identified (malar rash (83.2%), photosensitivity (76.9%)) followed by articular (87.4%), hematological (44.0%) and renal (36.9%) involvements. Antinuclear antibody was detected in all patients, followed by anti-dsDNA (35.1%), anti-Sm (21.8%) and anti-ribosomal P protein antibodies (19.8%). Additional comparison of clinical and laboratory features between genders revealed that malar rash was observed more in female SLE patients (84.5% vs. 69.4%, p = 0.001). Male lupus patients presented a higher frequency of anti-dsDNA (45.8% vs. 34.2%, p = 0.047) and a trend of more nephritis (47.2% vs. 36.0%, p = 0.059). In conclusion, we identified a high prevalence of mucocutaneous manifestations in this Brazilian SLE cohort compared to other countries, mainly malar rash that was most commonly observed in female patients. Anti-dsDNA and other specific SLE autoantibodies were also identified in a higher frequency, predominantly in the male gender.

Butterfly rash with periodontitis: A diagnostic dilemma.

Rashes can occur in any part of the body. But rash which appears on face has got both psychological and cosmetic effect on the patient. Rashes on face can sometimes be very challenging to physicians and dermatologists and those associated with oral manifestations pose a challenge to dentists. Butterfly rash is a red flat facial rash involving the malar region bilaterally and the bridge of the nose. The presence of a butterfly rash is generally a sign of lupus erythematosus (LE), but it can also include a plethora of conditions. The case presented here is of a female with butterfly rash along with typical bright red discoloration of gingiva. The clinical, histopathological and biochemical investigations suggested the presence of rosacea.

Systemic Lupus Erythematosus in a 12-Year-Old Boy: A Rare Entity in Childhood.

Childhood onsets of systemic lupus erythematosus (SLE) are quite rare and comprise less than 20% of all cases of lupus. Prepubertal onset is even rarer, as most children with SLE belong to the adolescent age group. SLE is an immune complex mediated disease with multiple organ system involvement, which may lead to high mortality and morbidity. We report a 12-year-old boy with SLE who presented clinically with malar rashes, joint pain and oral ulcers.

Two Cases of Allergic Reactions to Mesna which Imitate Malar Rash / 대한류마티스학회지

Hemorrhagic cystitis is potentially life-threatening sequellae of chemotherapy using oxazaphosphorine alkylating agents (cyclophosphamide and ifosfamide). Mesna contains a sulfhydryl group that is believed to bind acrolein within the urinary collecting system and reduce the hemorrhagic cystitis without affecting the chemotherapeutic potential. To date, about thirty cases of hypersensitivity or allergic reactions of the delayed and urticarial type associated with mesna have been reported. We reported two patients with systemic lupus erythematosus who developed facial rash and flushing associated with mesna which imitate malar rash.