Reynolds Syndrome Research Articles

Primary biliary cholangitis in patients with systemic sclerosis: Unmasking the true face of Reynold's syndrome

Aim of the workHepatic involvement is uncommon in patients with SSc and often associated with primary biliary cholangitis (PBC) an association known as 'Reynold's syndrome'. Anti-mitochondrial antibody (AMA) and anti-centromere antibody (ACA) indicate increased PBC risk in SSc patients. This study aimed to evaluate the relationship between SSc and PBC, and also associated antibodies. Patients and methodsIn this study, 128 SSc patients with diffuse cutaneous (dcSSc n = 59) and limited cutaneous (lcSSc n = 69) subtypes were enrolled. PBC was diagnosed with any 2 of the following: cholestasis based on alkaline phosphatase elevation, presence of AMA and histologic evidence of destruction of interlobular bile ducts and nonsuppurative destructive cholangitis. ResultsThe mean age of the patients was 54.8 ± 13.2 years and disease duration 2.4 ± 1.4 years and they were 106 (82.8%) females and 22 males. ANA was positive in 80.4% of all patients, anti-Scl-70 in 36.7% and ACA in 37.5%. PBC was present in 8 patients (4 in each subtype). In patients with PBC, ACA was positive in 75% compared to 35% in those without (p = 0.03). The gamma-glutamyltransferase (GGT) and direct bilirubin were significantly higher in those with Reynolds syndrome (57.5 ± 26.9 U/L and 0.3 ± 0.1 mg/dl) compared to those without (19.7 ± 9.7 U/L and 0.19 ± 0.1 mg/dl; p < 0.001 and p = 0.02 respectively). A significant relation was found between AMA-M2 with AMA and ACA (p = 0.02). ConclusionAutoantibodies may provide information about organ involvement in SSc. AMA, AMA-M2, and ACA may predict hepatic disease in asymptomatic SSc patients with elevated GGT levels.

Case Report: Reynolds Syndrome

Reynolds et al described in 1971, 6 patients with classical primary biliary cirrhosis who presented concomitantly with varying degrees of scleroderma. Since then this association has been called Reynolds Syndrome, being clearly documented over the years. This disease is more common in women and it presents as a systemic scleroderma localized type CREST (calcinosis, Raynaud’s phenomenon, alterations in esophageal motility, sclerodactyly and telangiectasia). To establish this diagnosis is not necessary to gather all the elements, only with two can already diagnose an incomplete CREST [1]. The liver symptoms are almost unnoticed by patients and if they are well tolerated, this is the reason why the medical consultation is delayed [2]. Due to the fact that it is a rare and underdiagnosed disease, we present the case of a female patient who consulted for lesions in the skin compatible with scleroderma, and subsequently, during the study, hepatic alterations were found. We came to the conclusion of the diagnosis of Reynolds syndrome.

A Rare Case of Reynolds Syndrome Revealed by Hematemesis

A Rare Case of Reynolds Syndrome Revealed by Hematemesis

Pseudoainhum numa Doente com Doença Mista do Tecido Conjuntivo: Uma Associação Incomum

Peudoainhum representa a formação de anéis constritivos em redor de um ou vários dedos. Pode ser congénito ou adquirido e, neste caso, pode estar associado a várias dermatoses como esclerose sistémica, queratodermias, psoríase, síndrome de Reynolds, entre outras. É apresentado o caso de uma mulher de 54 anos que foi referenciada por lesões digitais anulares constritivas e microníquia no quarto e quinto dedos das mãos associadas a acroesclerose distal bilateral. Salientava-se ainda a presença de fenómeno de Raynaud há vários anos e, mais recentes, fadiga e poliartralgias recorrentes de carácter inflamatório e ainda de anticorpos antinucleares e anticorpo anti-U1 ribonucleoproteína. Desta forma, foi considerado o diagnóstico de pseudoainhum associado a uma provável doença mista do tecido conjuntivo. É sabido que perante um caso de pseudoainhum, uma investigação etiológica aturada deve ser levada a cabo incluindo o despiste de doenças autoimunes. A associação de pseudoainhum com a doença mista do tecido conjuntivo não está descrita na literatura, razão pela qual este caso é apresentado.

Weakness and numbness of extremities with bowel and bladder dysfunction for four years

Weakness and numbness of extremities with bowel and bladder dysfunction for four years

Reynolds Syndrome: a rare rheumatologic disease that internists should have in mind. Case report

Introduction . Reynolds syndrome (RS) is an autoimmune disorder characterized by overlapping primary biliary cirrhosis (PBC) and limited cutaneous systemic sclerosis (lcSSc). Some published cases do not report pulmonary arterial hypertension (PAH), and diagnoses are usually based on clinical, immunological and histological findings, mainly focused on dermatologic features, on those associated with Sjogren's syndrome, or on an interesting presentation of malignant thymoma; only one case of reported PAH was found, but it was an image report. Case Presentation. This paper reports the case of a 75-year-old woman who presented with some of the features mentioned above, severe PAH, dyspnea for one month and two weeks of purulent expectoration, as well as generalized pruritus, nasal telangiectasias, Raynaud phenomenon, sclerodactyly, and high levels of alkaline phosphatase and transaminases. Pulmonary arterial hypertension was documented through a transthoracic echocardiogram, and inmunoflorecence reported mitochondrial and centromere patterns of antinuclear-antibodies. Consequently, RS was diagnosed and phosphodiesterase type-5 inhibitors were started for PAH treatment resulting in the improvement of dyspnea. Conclusion . Dyspnea could be caused by many conditions, but in the presence of clinical and physical findings, it suggests an autoimmune disorder. Scleroderma should be considered and, additionally, PAH should be investigated since it is present in up to 10% of patients, conferring a worse prognosis. Internists should keep in mind that these disorders may be associated with other autoimmune diseases.

Chondrodermatitis nodularis chronica helicis in a patient with systemic sclerosis associated with primary biliary cirrhosis (Reynolds syndrome): A case report.

Chondrodermatitis nodularis chronica helicis is a rare non-neoplastic inflammatory and degenerative process of the external ear, characterized by necrobiotic changes in the dermis that extend down to the perichondrium. This condition has been occasionally reported in patients with limited cutaneous systemic sclerosis but not in those with concomitant primary biliary cirrhosis; this association is known as Reynolds syndrome. We report a 70-year-old woman diagnosed with primary biliary cirrhosis at age 47 and with limited cutaneous systemic sclerosis at age 54 who developed a painful ulcerated nodule on the helical rim of the left ear shortly after the last diagnosis. The lesion was excised because of the suspicion of malignancy, but the histopathology was consistent with chondrodermatitis nodularis chronica helicis. Although this condition is infrequent, it is necessary to know, because it may occur in patients with systemic sclerosis and be mistaken for neoplasms, such as basal cell and squamous cell carcinoma, and these patients have an increased risk for the development of skin malignancies.

Un syndrome de Reynolds révélant un thymome malin

IntroductionThymomas, benign or malignant, may be associated with autoimmune diseases. They are classically associated with myasthenia gravis, neuromyotonia, or pure red cell aplasia. Case reportWe here report, to the best of our knowledge, the first description of an association between thymoma and Reynolds syndrome (systemic sclerosis associated with primary biliary cirrhosis) in an 80-year-old woman. ConclusionThe suspected pathogenesis of this association could be a thymus escape of auto-reactive T lymphocytes and the consecutive development of an auto-immune disorder.

A Case of Reynolds Syndrome: Scleroderma and Primary Biliary Cirrhosis Overlap Syndrome

Primary biliary cirrhosis (PBC) is a chronic liver condition characterized by bile duct destruction, probably caused by a yet unknown immunological mechanism. Its association with several other autoimmune diseases has been described. The association of the limited cutaneous form of systemic scleroderma (lcSSc) and PBC is known as Reynolds syndrome. The authors describe a case of a 76 year old male patient with Raynaud’s phenomenon complaints in 1999. The physical examination revealed sclerodactyly, cutaneous calcifications, digital ulcers and facial telangiectasias. Chest radiography showed signs of lung fibrosis. Dilated capillary loop were found in nailfold capillaroscopy. The autoimmunity pattern was compatible with limited systemic sclerosis (antinuclear and anticentromere antibodies were positive). In 2005 the autoimmunity pattern changed, with positive antimitochondrial antibodies. The patient presented with fatigue, pruritus and dyspnea on exertion complaints. Liver function tests showed elevation of alkaline phosphatase and gamma-glutamyl transpeptidase. Although the patient refused liver biopsy, PBC diagnosis was established. In 2008 the patient was admitted to the hospital with anorexia, dyspepsia, ascites, abdominal pain and weight loss. Endoscopy showed esophageal varices and abdominal computed tomography revealed cirrhotic liver. The patient died in 2009 with acute myocardial infarction. doi:10.4021/jmc276w

A Case of Reynolds Syndrome: Scleroderma and Primary Biliary Cirrhosis Overlap Syndrome

Primary biliary cirrhosis (PBC) is a chronic liver condition characterized by bile duct destruction, probably caused by a yet unknown immunological mechanism. Its association with several other autoimmune diseases has been described. The association of the limited cutaneous form of systemic scleroderma (lcSSc) and PBC is known as Reynolds syndrome. The authors describe a case of a 76 year old male patient with Raynaud’s phenomenon complaints in 1999. The physical examination revealed sclerodactyly, cutaneous calcifications, digital ulcers and facial telangiectasias. Chest radiography showed signs of lung fibrosis. Dilated capillary loop were found in nailfold capillaroscopy. The autoimmunity pattern was compatible with limited systemic sclerosis (antinuclear and anticentromere antibodies were positive). In 2005 the autoimmunity pattern changed, with positive antimitochondrial antibodies. The patient presented with fatigue, pruritus and dyspnea on exertion complaints. Liver function tests showed elevation of alkaline phosphatase and gamma-glutamyl transpeptidase. Although the patient refused liver biopsy, PBC diagnosis was established. In 2008 the patient was admitted to the hospital with anorexia, dyspepsia, ascites, abdominal pain and weight loss. Endoscopy showed esophageal varices and abdominal computed tomography revealed cirrhotic liver. The patient died in 2009 with acute myocardial infarction. J Med Cases. 2011;2(5):225-228 doi: https://doi.org/10.4021/jmc276w

Is Reynolds syndrome a genetic laminopathy?

Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). Although generally considered as an autoimmune disease owing to the presence of typical autoantibodies and to microscopical abnormalities suggesting autoimmunity (lymphoid infiltrate around the biliary ducts and the cutaneous vessels, pericarditis, pleurisy), other causes have been searched for, especially genetic. The discovery of a new mutation in the Lamin receptor B in a French patient suffering from Reynolds syndrome [1] revives this controversy. Laminopathies have a great variety of manifestations, but some are quite comparable with either SSc or PBC, and the new mutation has been found neither in a group of 27 other patients with SSc, nor in 400 normal subjects. After bioinformatics searching, the authors claim that it is plausible that the new mutation is pathogenic. It remains to be shown, however, that this is really the case by testing directly the liver and skin fibroblasts of the patient. Moreover, looking at a series of CBP patients and at a larger SSc sample will be enlightening to appreciate the real value of that discovery.

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome

BackgroundLamins are proteins of the nuclear envelope involved in ‘laminopathies’, an heterogeneous group of diseases sharing clinical similarities with systemic sclerosis (SSc).MethodsIn this context, a search was undertaken for mutations...

Multiples Autoimmunsyndrom

A female patient presented with acral scleroderma, Sjögren syndrome, antibodies specific for primary biliary cirrhosis and clinical as well as histological features of lichen planus and subacute lupus erythematosus. In addition an euthyroid Hashimoto thyroiditis was found. Her findings correspond to type II of the multiple autoimmune syndrome (MAS) and can be described as an association of Reynolds syndrome and the lupus erythematosus/lichen planus-overlap syndrome.

Dyspnée d'effort révélatrice d'un syndrome de Reynolds avec hypertension artérielle pulmonaire sévère

We report one case of a Reynolds syndrome (primary biliary cirrhosis and scleroderma) with severe pulmonary hypertension in a 65-year-old woman suffering from exercise dyspnea.