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PubMed2005

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.

UNLABELLED: We present a 7-week-old male infant with pseudoscleroderma as a primary manifestation of the Hutchinson-Gilford syndrome of premature aging. He had suffered intra-uterine growth retardation; micrognathism and a cleft palate were evident at birth. He presented with feeding difficulties and severe, diffuse scleroderma-like lesions, a faint peri-oral cyanosis and prominent scalp veins. With time, special facial features became more and more apparent: frontal bossing, prominent eyes, thin and fine nose and lips, microstomia, low-set ears and occipito-parietal alopecia. Histopathology of the skin showed an increased density and thickness of collagen in the dermis and hypodermis. Within the 1st year of life, typical skeletal characteristics were observed. The diagnosis of Hutchinson-Gilford syndrome was confirmed by analysis of the lamin A gene, revealing a heterozygous c.1824C > T (G608G) mutation. CONCLUSION: Hutchinson-Gilford syndrome is an extremely rare disorder of which the full clinical spectrum becomes evident with time. Sclerodermatous changes in the infant can be the first manifestation.

Alopecia↗
PubMed2004

Clinical and laboratory features of scleroderma patients developing skeletal myopathy.

Skeletal muscle involvement, or myopathy, has been a recognized feature of systemic sclerosis (SSc). We studied retrospectively 302 Japanese patients with SSc to elucidate the clinical and laboratory features in scleroderma patients developing skeletal myopathy during their clinical course. Forty-three patients (14%) developed skeletal myopathy during their course of the disease. The mean age of the patients who developed skeletal myopathy was significantly lower than that of those who did not. The ratio of male to female was significantly higher in the myopathic patients. The patients with diffuse cutaneous SSc were more likely to develop myopathy than those with limited cutaneous SSc. The prevalences of heart involvement, pulmonary fibrosis, diffuse pigmentation of the skin, and contracture of phalanges were significantly greater in those with skeletal myopathy than in those without. None of the patients with skeletal myopathy had anticentromere antibody. These findings suggested that the SSc patients with severe internal organ involvement, such as pulmonary fibrosis and heart disease, and some other complications were prone to develop skeletal myopathy during their clinical course of the disease.

Adult↗
PubMed2002

Scleroderma subsets are best detected by the simultaneous analysis of the autoantibody profile using commercial ELISA.

OBJECTIVE: Antinuclear antibodies are often present in patients with systemic sclerosis but do not provide useful prognostic information if studied individually. Although an autoantibody profile should be studied, this has never been done in a large series of patients. METHODS: Anticentromere, anti-topoisomerase-I, anti-extractable-nuclear-antigen, antihistone and anticardiolipin antibodies were studied by means of enzyme immunosorbent assay in 90 systemic sclerosis patients. RESULTS: We confirmed that anticentromere antibodies characterize limited forms of the disease with less frequent visceral involvement while anti-topoisomerase-I antibodies characterize diffuse forms with severe gastrointestinal, heart and lung involvement. Antihistone antibodies alone or associated with anticentromere antibodies characterize a disease subset with more frequent visceral involvement and a probably poor outcome. Patients with anticardiolipin antibodies, instead, did not display severer heart or vascular involvement. CONCLUSIONS: Systemic sclerosis patients are often found to have antinuclear antibodies. In addition to the well-known disease subsets identified by anti-topoisomerase-I and anticentromere antibodies, another one can be established, characterized by antihistone antibodies often associated with anticentromere antibodies. Patients displaying this profile have high prevalence of lung, kidney and heart involvement.

Adult↗
PubMed1993

Susceptibility and resistance to cyclosporin A-induced autoimmunity in rats.

Lethally irradiated Lewis (LEW) rats, reconstituted with syngeneic bone marrow and next given Cyclosporin A (CyA) for several weeks, develop disease (Cyclosporin A-induced autoimmunity; CyA-AI) after withdrawal of CyA. This disease resembles in terms of dermal changes the acute dermatitis and chronic scleroderma also seen in graft-versus-host disease (GVHD). In this study we report the relative resistance of the Brown Norway (BN) rat strain to the induction of CyA-AI. In contrast to LEW rats, in which CyA-AI was originally described, BN rats showed no acute dermatitis or scleroderma-like skin pathology in spite of comparable changes in the thymus and a maturation arrest of CD4+ T cells. The difference was also demonstrated functionally for whereas in LEW rats delayed-type hypersensitivity (DTH) reactions could not be elicited during CyA-AI, these were within normal limits in BN rats subjected to the same protocol; NK activity on the other hand was unaffected in both strains. The observation that BN rats developed very mild late disease as evidenced by a slight though significant weight loss suggests that the BN strain is susceptible to the disease but that lesser effector cell generation or, alternatively, stronger suppressor cell responses may prevent dermal disease. These observations may contribute to the elucidation of the mechanisms involved in this experimental autoimmune disease.

Animals↗
PubMedDate not supplied

[New knowledge on the diagnosis and prognosis of interstitial lung disease in scleroderma].

According to their clinical manifestation 101 patients with scleroderma were separated in morphea (n = 17) and progressive systemic sclerosis (PSS) (n = 84). PSS was divided into Type I (Acrosclerosis, n = 19), Type II (proximal ascending scleroderma, n = 61), and Type III (trunk scleroderma, n = 4). Lung function testing was done, including vital capacity, total capacity, FEV1.0, airway resistance, CO-transfer factor, lung compliance, blood gases at rest and during exercise. Patients suffering from Type-II or -III PSS, especially when displaying signs of inflammation in blood and serum (Form A) carry a much higher risk of developing severe life-limiting lung involvement compared to patients with morphea or Type-I PSS, or those without signs of inflammation (Form B). Lung function indicates the severity of functional involvement and inables to differentiate from obstructive bronchopulmonary disease. Bronchoalveolar lavage (BAL) showed a normal cell pattern in all Type-I patients (n = 5). In contrast, only six out of 33 Type-II patients had a normal BAL. PSS patients showing signs of inflammation in blood and serum (Form A) had, compared to those without inflammation (Form B), significantly elevated numbers of inflammatory cells in BAL. These results show that in patients with a high incidence of pulmonary manifestation in PSS (Type II, III, Form A) an inflammatory cell pattern in BAL was found significantly more frequently than in those patients without this risk factor (Type I, Form B). In the course of disease lung function of patients without inflammatory activity in BAL remained unchanged irrespective of whether there was an immunosuppressive treatment or not.(ABSTRACT TRUNCATED AT 250 WORDS)

Bronchoalveolar Lavage Fluid↗
PubMed1997

[Effects of various prokinetic drugs on gastrointestinal transit times in patients with progressive systemic scleroderma].

The intestine is involved in about half of the cases with progressive-systemic sclerosis. Intestinal transit disturbances which are caused by neuropathy of the enteric nerve system occur frequently. However, upto-date only few studies which determined the effect of prokinetic drugs exist. Patients with intestinal involvement caused by progressive-systemic sclerosis were treated with the prokinetic drugs cisapride (20 mg, TID; n = 9), erythromycin (250 mg, TID; n = 7) and octreotide (50 micrograms s. c., at night time; n = 5) over a period of four weeks. At study entry and after each treatment period the transit times through the stomach, small and large intestine were evaluated by use of the metal-detector test. Gastric emptying was only accelerated by erythromycin (42 +/- 3 min vs. 54 +/- 6 min; p = 0.0422), whereas treatment with cisapride and octreotide did not result in significant changes (48 +/- 4 min; p = 0.3743 and 44 +/- 4 min; p = 0.1975; resp.). Small intestinal transit times were not altered significantly by cisapride (108 +/- 15 min vs. 108 +/- 9 min; p = 0.2733), crythromycin (92 +/- 8 min; p = 0.0707) or octreotide (106 +/- 12 min; p = 0.8927). Furthermore colonic transit was not fastened by none of the prokinetic agents (study entry: 68 +/- 12 h; cisapride: 88 +/- 12 h; p = 0.0569; erythromycin 77 +/- 14 h; p = 0.7349; octreotide 107 +/- 14 h; p = 0.8927). Four patients were withdrawn from the study because of diarrhea. Prokinetic drugs do not seem to have a major impact on intestinal transit times in patients with progressive-systemic sclerosis. The use of these drugs is limited because of frequent side effects.

Aged↗
PubMed1987

Trigeminal sensory neuropathy. A study of 22 cases.

The clinical and electrophysiological findings in 22 patients with chronic trigeminal sensory neuropathy are described. The main clinical feature was slowly evolving unilateral or bilateral facial numbness sometimes associated with pain and paraesthesiae and commonly with disturbed taste. Nine patients had either systemic sclerosis or mixed connective tissue disease. Of the 13 other patients, 9 had either organ or nonorgan specific serum autoantibodies. Blink reflex latencies were recorded in 17 patients, the commonest abnormality being an 'afferent' defect with modest prolongation of latency. Trigeminal sensory evoked responses were recorded in 14 cases, 6 showing mild prolongation of latencies. It is suggested that the lesion in this type of trigeminal neuropathy is in the trigeminal ganglion or in the proximal part of the main trigeminal divisions. This conclusion is supported by limited pathological data.

Adult↗
PubMed1996

[Esophageal mucosal lesions and scleroderma: prevalence, symptoms and risk factors].

Scleroderma or systemic sclerosis (Ssc) is a connective tissue disease which frequently involves the esophagus. Motility disorders, such as a low pressure level in the Lower Esophageal Sphincter (LES), and disturbed esophageal peristalsis cause a higher acid exposition and mucosal damage. We study twenty Ssc patients using computerized esophageal manometry, endoscopy and clinical interview looking for prevalence of symptoms, esophageal dysmotility and erosive esophagitis, and trying to find risk factors involved in esophageal damage. Esophagitis was found in 40% of patients. Clinical presentation (diffuse or limited), age and time since diagnosis wer'nt accurate predictors of esophageal involvement. Symptoms such as dysphagia and heartburn had not any significant difference in those with and without esophagitis, so 25% of patients with mucosal damage had no symptoms and 60% of healthy ones complained about them. LES values were not significantly different between the two groups, with a great degree of overlap with normal values. Disturbed motility pattern of aperistalsis was the only factor that identified high and low risk groups for esophagitis, with a high statistical significance (p > 0.02). Mucosal sensitivity in severe esophagitis and pharyngeal and upper esophageal functions were normal in all patients. Impaired peristalsis, with a delayed clearance of acid is the most important factor for mucosal damage in scleroderma. Symptoms of gastroesophageal reflux are not a reliable predictor of erosive esophagitis. Endoscopy should be the usual method of diagnosis, in order to make a proper use of therapeutic weapons.

Adult↗
PubMed2006

[A case of systemic scleroderma complicating pulmonary hypertension].

The patient was a 7-year-old girl. At the age of 6, deposits of pigment had appeared on the skin of her face and limbs, the skin had become sclerosed, and she had developed dyspnea on exertion. Her previous physician had hospitalized her. She was diagnosed as systemic scleroderma that accompanied pulmonary hypertension by her symptoms and laboratory findings. She was referred to our hospital at 7 years of age, and she was hospitalized. At that time, the entire skin showed deposition of brown pigment, the skin of the limbs was sclerotic. And the face was mask-like, flexion of the joints of the fingers and knees was limited, and the fingertips were ulcerated. Raynaud's phenomenon was present. She was positive for antinuclear antibodies, and negative for other autoantibodies. Echocardiography revealed pulmonary hypertension. After admission, steroid pulse therapy and cyclophosphamide (CY) pulse therapy were initiated, and for aftercare, 15 mg/day of prednisolone (PSL) and mizolibin (MZB) were administered orally. After several months, the sclerosis of the skin improved and the restriction of limb flexion was almost eliminated. The pulmonary hypertension advanced temporarily (maximum: 70 mmHg), but after oral administration of a PGI2 preparation and low-flow supplemental oxygen therapy and the initiation of anticoagulant therapy, the systolic pressure of the pulmonary artery improved to 34 mmHg. The CY pulse therapy was terminated after two years, and internal use of PSL and MZB was continued. The patient's condition is now stable. This case was treated from an early stage with steroid pulse therapy and CY pulse therapy, accompanied with oral administration of a PGI2 preparation for the pulmonary hypertension. The dermal symptoms improved, and it was possible to maintain a state of remission.

Child↗
PubMed2006

Pneumatosis cystoides intestinalis with systemic sclerosis, limited type resulting in a poor prognosis.

Pneumatosis cystoides intestinalis (PCI) is a rare disease characterized by the presence of multilocular intramural clusters of gas in the alimentary tract and has been considered to have a favorable response to conservative treatment. We describe the first case of limited type of systemic sclerosis (SSc) with PCI. A 74-year-old Japanese woman presented with a 4-month history of an unhealed cutaneous ulcer on the right third finger, along with sclerodactyly of bilateral hands. Proximal skin sclerosis was absent. The patient reported acute abdominal pain, and a diagnosis of PCI was established on plain radiography. The patient died of multiple organ failure 5 months after the development of PCI. PCI is rarely complicated with SSc, and all cases previously reported were associated with diffuse SSc. Because PCI is one of the poor prognostic factors of SSc, we should recognize the presence of this condition even in patients with limited cutaneous involvement.

Aged↗
PubMed2002

Stem cell transplantation for autoimmune disease: progress and problems.

The current status of stem cell transplantation in rheumatoid arthritis, juvenile chronic arthritis, systemic lupus erythematosus, and systemic sclerosis are reviewed. From a large European bone marrow transplant registry, a birds' eye view of stem cell transplantation for autoimmune disease can be obtained. Among 43 rheumatoid arthritis patients, 35 juvenile chronic arthritis patients, 34 systemic lupus erythematosus patients, and 58 systemic sclerosis patients who underwent stem cell transplantation, initial responses in most patients were good to excellent. Although initial transplant related mortality was low for rheumatoid arthritis, somewhat higher rates for juvenile chronic arthritis, systemic lupus erythematosus, and systemic sclerosis may be falling with modifications in the stem cell transplantation regimens. In rheumatoid arthritis and systemic lupus erythematosus treatment, the criteria for patient selection are still not clear and the therapeutic regimens for stem cell transplantation (and whether follow-up treatment is necessary) are not fully defined. In juvenile chronic arthritis, responses are encouraging although little fully published data beyond that from the European Bone Marrow Transplant Registry exist. In systemic sclerosis, criteria for patient selection and a limited number of stem cell transplantation regimens have been agreed on and controlled trials are underway.

Arthritis, Juvenile↗
PubMed1990

Treatment of generalized systemic sclerosis.

Over the years, many encouraging uncontrolled studies extolling treatments of SSc have appeared, but initial impressions were not corroborated when controlled trials were done. This article points out that certain recent studies have effectively ruled out the use of some specific therapies for the general treatment of systemic sclerosis. Thus, sufficient data has been generated to rule out the use of n-acetylcysteine, colchicine, chlorambucil, cyclofenil, and DMSO, at least in disease of longer duration. Ketanserin and prostaglandin infusions probably also belong in this group, as they affect only Raynaud's phenomenon. Angiotensin enzyme inhibitors, while probably life-saving in renal crises, do not seem to affect the underlying systemic sclerosis per se. Another group of drugs has only limited supportive data and await well-controlled trials to prove or disprove their effectiveness. These include: 5-fluorouracil, D-penicillamine, drugs affecting platelet function (dipyridamole), and para-aminobenzoic acid. There are a few treatments which have potential. Factor XIII has only limited data using controlled trials, but what does exist seems positive. Apheresis is encouraging, although the success of this treatment modality may be dependent upon a "combination" approach. Ongoing studies with gamma-interferon, photopheresis, and the mast cell stabilizer ketotifen appear exciting, and we await reports of their use in scleroderma. On another level, new insights into genomic alterations in skin fibroblasts and T-cell proto-oncogene expression have contributed to the understanding of the pathogenesis of this disease at the cellular level and new methods to measure change in disease will help gauge response to therapy. Thus, we look forward to more definitive treatment of SSc in the future.

Humans↗
PubMed1981

Clinicopathologic assessment of arrhythmias in a case of scleroderma heart disease with sudden death.

Electrophysiologic and histopathologic correlation has been carried out in a patient with scleroderma heart disease, affected by syncopal seizures, who died of recorded ventricular fibrillation. The electrophysiological investigation disclosed dysfunction of sinoatrial conduction, revealed by sinoatrial blocks and by an abnormal return cycle pattern after premature atrial beats. Atrial effective and functional refractory periods were increased and an unusual 'pseudo-Wenckebach' phenomenon between artificial stimulus and atrium was observed during atrial pacing. Intra-AV nodal conduction time was at normal upper limits and Wenckebach-type AV block was obtained on pacing the atrium at 100 beats/min. HV conduction was moderately prolonged in the presence of left anterior hemiblock. The histopathologic substrates of these electrophysiologic disturbances were fibrosis of the sinus node, disrupted internodal pathways and atrio-AV nodal connections, and left bundle branch atrophy. As far as fatal tachyarrhythmia is concerned, myofibrillar degeneration may have contributed to its pathogenesis. It is suggested that both lesions of the ordinary myocardium and specialized conduction system account for the electrical instability of sclerodermic patients.

Adult↗
PubMed2006

Successful autologous peripheral blood stem cell transplantation using thiotepa in a patient with systemic sclerosis and cardiac involvement.

A 19-year-old man with systemic sclerosis (SSc) was hospitalized for autologous peripheral blood stem cell transplantation (auto-PBSCT) due to progressive scleroderma and cardiac involvement despite conventional treatment. During the administration of cyclophosphamide (60 mg/kg/day for 2 days) for mobilization and collection of CD34+ selected peripheral blood stem cells, he developed congestive heart failure. Echocardiogram showed hypokinetic asynergy from the septum to posterior wall, which might indicate underlying cardiac damage. We were also concerned about the risk of high-dose cyclophosphamide-induced cardiotoxicity. Since the dose-limiting toxicity of thiotepa, an alkylating agent, is myelosuppression, and cardiac toxicity due to thiotepa is less common, we used a conditioning regimen consisting of thiotepa (10 mg/kg/day, day -5) and low-dose cyclophosphamide (50 mg/kg/day, days -3 and -2), instead of the conventional high-dose cyclophosphamide (50 mg/kg/day x 4 days/course). The post-transplant course was uneventful, and the modified Rodnan skin thickness score improved from 32 to 15. The present case report demonstrates that thiotepa can be employed as a conditioning regimen for auto-PBSCT in SSc patients with cardiac involvement in order to reduce cyclophosphamide-induced cardiotoxicity.

Adult↗
PubMed1994

Comparison of laser Doppler perfusion imaging, laser Doppler flowmetry, and thermographic imaging for assessment of blood flow in human skin.

In this study we compared three non-invasive methods of measuring skin perfusion, thermographic imaging (TI), laser Doppler flowmetry (LDF) and the new technique of laser Doppler imaging (LDI). Seven normal volunteers were studied in a temperature-controlled room with an ambient temperature of 22 +/- 1 degree C. Images of the left hand were recorded using LDI followed by TI. LDF was then used on two standard locations on the fingers and back of the hand. The measurements were then repeated for a hot (37 degrees C) and then a cold (10 degrees C) challenge. A significant linear correlation (r = 0.960, p < 0.01, with 95% confidence limit of 0.35-0.77, n = 38) was found between LDF and LDI. However, LDF and LDI did not correlate well with TI (r = 0.577, p < 0.01, with 95% confidence limit of 0.32-0.76, n = 38). The LDI method was found to be highly reproducible (mean +/- 1 SD; 625 +/- 30, with coefficient of variation 5%). The blood flow and temperature distribution of skin of the hand was then recorded using TI and LDI in 10 patients (mean age +/- SD, 41.7 +/- 9.9) with scleroderma and eight normal volunteers (mean age +/- SD, 30.6 +/- 6.5). The overall mean blood flow and temperature in the hands of patients with scleroderma (mean +/- SD 444 +/- 265 flux, 29.3 +/- 3.3 degrees C) was significantly (p < 0.0001) lower compared with the normal volunteers (mean +/- SD, 912 +/- 390 flux, 34.0 +/- 3.2 degrees).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

Comparison of high frequency (20 MHz) ultrasound and palpation for the assessment of skin involvement in systemic sclerosis (scleroderma).

BACKGROUND AND OBJECTIVES: Systemic sclerosis (SSc) is a connective tissue disease characterized by microvascular changes and fibrosis of the skin and internal organs. Increased skin thickness proximal to the metacarpophalangeal joints is the single major diagnostic criterion. The aim of this study was to evaluate high frequency (20 MHz) ultrasound for the assessment of skin thickness in patients with SSc of different disease durations. METHODS: Skin thickness was measured with high frequency (20 MHz) ultrasound equipment (Dermascan) in 41 patients with SSc (23 women and 18 men) and in 41 controls. Twenty-five patients had limited cutaneous systemic sclerosis (ISSc), 12 had diffuse cutaneous systemic sclerosis (dSSc) and 4 had suspected SSc. RESULTS: Skin thickness of the forearm was inversely correlated to disease duration. Compared to controls, skin thickness was increased over the proximal phalanx of the right second finger and over the forearm in patients with a disease duration of 2 years or less. Assessments of skin thickness in 10 controls by 2 independent investigators showed an inter-observer variability of 1.0% for the proximal phalanx and 0.0016% for the forearm. Patients whose ultrasound showed increased skin thickness on the hand and forearm also had thickened skin by palpation. CONCLUSION: High frequency (20MHz) ultrasound is a feasible method for measuring skin thickness in SSc, and may be useful for diagnosis, long-term follow-up, and assessment in therapeutic studies.

Adult↗
PubMed1994

Systemic sclerosis in Iceland. A nationwide epidemiological study.

OBJECTIVES: To investigate the incidence, prevalence and clinical features of systemic sclerosis (SS) in Iceland. METHODS: All patients diagnosed with SS from 1975-90 were included. Retrieval for the study began in 1980 and was carried out by computerised search from registers of all hospitals and health care clinics and death registration files, and with personal communication with doctors in Iceland. RESULTS: Over a 16 year period from 1975-90, 15 new cases were found with an incidence of 0.7 and 0.05/100,000, for females and males at risk respectively, and 0.38 for both sexes. At the end of 1990 there were 18 patients alive with SS, 13 with limited and five with diffuse cutaneous involvement. The age standardised prevalence was 11.9 and 1.5/100,000 for females and males at risk respectively. The crude prevalence rate for both sexes was 7.1/100,000. There were five deaths, two patients died of SS related causes, one had SS renal disease. The relative risk of death was similar to that in the general population. The calculated five year survival rate was 100% and the 10 year survival rate 81%. No HLA antigen association was found. CONCLUSION: Compared with previous surveys this study shows a low incidence of systemic sclerosis and a high proportion of patients with limited cutaneous involvement.

Adolescent↗
PubMed1984

[Incidence and diagnostic significance of reactive syphilis antibodies in systemic lupus erythematodes and other immunologic diseases].

Serum samples of 78 patients with systemic lupus erythematosus, systemic sclerosis and other immunological diseases were tested for antibodies to syphilis. Reactive or weak reactive results were observed in 10% by means of the treponema pallidum hemagglutination (TPHA) test, in 27% by the FTA-Abs test, in 40% applying the IgM-FTA-Abs test, in 10% by the VDRL test and in 3% of the cases using the cardiolipin CF test. Only in 3 patients (4%) we found an antibody pattern characteristic of syphilitic patients (TPHA and FTA-Abs test simultaneously undoubtedly reactive). Neither the comparative qualitative and quantitative determination of antibodies to ANA, nDNS and ENA (extractable salinesoluble nuclear antigen) nor elimination of nDNS and ENA antibodies, or incubation of the treponemal test antigen with DNase lead to a conclusion whether the reactive results of the TPHA, FTA-Abs, and IgM-FTA-Abs tests specifically indicate a syphilitic infection. The low incidence of reactive syphilis tests in SLE and the presence of syphilitic antibodies in other immunological diseases limitate the significance for the criterium in the diagnosis of SLE.

Antibodies, Bacterial↗