Diagnosis Of Progressive Systemic Sclerosis Research Articles

Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis.

We present the case of a 53-year-old woman of Portuguese ancestry with a diagnosis of progressive systemic sclerosis (SSc), proposed for haematopoietic stem cell transplantation (HSCT). Clinical re-evaluation when assessing eligibility for the procedure led to the alternative diagnosis of familial amyloid polyneuropathy (FAP). We discuss the clinical presentations of FAP and SSc, focusing on their overlapping and distinguishing features. We emphasize the need for a high level of suspicion in order to establish an early diagnosis of FAP in the absence of a family history, and provide prognostic and genetic counselling.LEARNING POINTSIt is important to review diagnoses, especially when the clinical course is atypical.Cutaneous involvement is a commonly unrecognized feature of familial amyloid polyneuropathy.Hereditary conditions should be included in the differential diagnosis of multisystemic diseases, even in the absence of a family history.

Progressive Systemic Sclerosis and its Dental Implications: A Case Report

Scleroderma is a complex autoimmune rheumatic disease characterised by the widespread fibrosis of skin and visceral organs, dysregulation of immune system and vasculopathy. The aetiology of this disease remains unknown till now. It is known to exist in two forms namely localised and generalised/progressive. It is known to affect females more commonly than males, and also shows a wide range of oral and paraoral manifestations including xerostomia, periodontal disease, restricted mouth opening, burning mouth syndrome, dysphagia, gastroesophageal reflux. Here, authors presents a case of 76-year-old female patient presented with the chief complaint of dry mouth, restricted mouth opening, burning sensation in mouth and reduced taste perception for the past seven years. On the basis of gastrointestinal disorder, Raynaud’s phenomenon, fish mouth appearance and various other extraoral and intraoral features a diagnosis of Progressive Systemic Sclerosis (PSS) was made. The present case also emphasised upon the crucial role of a general dentist in diagnosing such rare systemic diseases. This disease is known to carry a significant burden in the form of pain and disability which potentially limits the proper functioning of major internal organs and results in various life limiting complications. Thus, early diagnosis with appropriate investigations followed by specialist and multidisciplinary approach to treatment, is the key for the successful management of disease.

Pictorial review of intrathoracic manifestations of progressive systemic sclerosis

Intra-thoracic manifestations of progressive systemic sclerosis (PSS) are not well known particularly the imaging features, which forms the basis of accurate and timely diagnosis. The aim of this study is to familiarize the physicians and radiologists with these features. The diagnosis can remain elusive because of the non-specific nature of symptoms which mimic many common conditions. Thus, the diagnosis of PSS can be missed leading to continuous morbidity if the correct imaging is not pursued. The authors examined the records of rheumatology patient referrals of over a 5 year period. A hundred and seventy patients with systemic sclerosis and mixed connective tissue disorders were chosen for detailed study of the imaging available, which form the basis of this review. The images included conventional chest radiographs, digital radiographs computed radiography (CT) and high resolution computed tomography (HRCT). Where applicable computed pulmonary angiography (CTPA) and radionuclide scans were also interrogated.

Localized periodontal ligament space widening as the only presentation of scleroderma—reliability recheck: Author response

With reference to the letter by Prasad R and Pai1 in the July 2012 edition of DMFR, we appreciate the authors’ comments and interest in this topic. In the following paragraphs, we have tried to reply to the queries discussed. We performed only routine oral examinations on our patients who were referred for dental radiographic evaluation. There could have been involvement of other organs such as the oesophagus, lungs and kidneys; however, none of the patients was aware of having scleroderma. Exact medical diagnostic evaluation is required for determining such involvement and we did not mention the complete diagnostic process for these patients. Regarding the title of our article, it presents the early diagnosis of progressive systemic sclerosis (scleroderma) from a panoramic point of view, in patients unaware of their disease. Various possibilities and theories have been suggested to explain the mechanism of periodontal ligament (PDL) widening in scleroderma patients, by authors such as Auluck2,3 and Mehra;4 however, none has yet been proved. Determining the cause of PDL widening in these patients requires more research. In our paper, we discussed the early manifestation of scleroderma from a panoramic point of view; these patients do not necessarily fulfil the clinical criteria of the disease at first, and they may present with one symptom and appear to have other involvement later. In addition, we did not find any mention of the diagnosis of scleroderma necessitating the association of PDL widening with at least one of the signs listed by Prasad R and Pai in the references listed in their letter.1 As we mentioned in the discussion of our article, widening of the PDL may also occur in malignancies and trauma from occlusion. In malignancy, the lamina dura does not remain intact, and PDL widening takes place in the teeth located around the lesion. Conversely, in scleroderma, the lamina dura remains intact, and PDL widening occurs in more than one quadrant and usually in the posterior teeth.5 PDL widening occurs in trauma from occlusion, but in association with angular bone defects and mobility of teeth.4,6 However, in scleroderma, involved teeth are often not mobile and their gingival attachments are usually intact. Certainly, we found no predisposing factor to trauma from occlusion and also no angular bone defects or mobility of teeth in our patients. Trauma from occlusion due to orthodontic treatments is usually generalized; furthermore, none of our patients had a previous history of orthodontic procedures. We have recommended that scleroderma should be considered in the differential diagnosis in patients showing unexplained prominent widening of the PDL with an intact lamina dura but without trauma from occlusion, especially if PDL widening is located in the posterior teeth and in more than one quadrant. However, we do not suggest performing skin biopsy in all patients with only PDL widening without the mentioned conditions. In Case 2, after ruling out trauma from occlusion, concerning the intact lamina dura and involvement of two quadrants, and considering that some authors have reported a few scleroderma patients who had PDL widening in posterior teeth only,2 we performed a skin biopsy to make the diagnosis of scleroderma.

Early diagnosis of progressive systemic sclerosis (scleroderma) from a panoramic view: report of three cases

Systemic sclerosis (scleroderma) is a multisystem disease involving the skin, lungs, heart, kidneys and gastrointestinal tract. It is probably owing to a disorder of the immune system. It may also have some oral manifestations, including limited ability to open the mouth, widening of the periodontal ligament (PDL) space and mandibular bone resorption. We report here on three asymptomatic cases that were referred to our oral and maxillofacial radiology centre for another reason, and in which we suspected scleroderma based on the widening of the PDL in the panoramic view. The early diagnosis was finally confirmed by pathological findings.

Natural killer activity and antibody-dependent cellular cytotoxicity in progressive systemic sclerosis

Enhanced natural killer (NK) activity and normal lymphocyte antibody-dependent cellular cytotoxicity (ADCC) were observed in 16 patients with a diagnosis of progressive systemic sclerosis (PSS). Higher NK activity levels were observed against NK-sensitive K562 target cells, while the NK-resistant P815, Daudi and Raji cell lines were not lysed. Cytofluorimetric studies and morphological analysis of peripheral blood lymphocytes (PBL) showed an increased number of CD16 positive cells and large granular lymphocytes (LGL), indicating that the enhancement observed was probably attributable to an increase in the number of circulating NK cells.

Progressive systemic sclerosis sine scleroderma in a child presenting as nocturnal seizures and Raynaud's phenomenon

Progressive systemic sclerosis sine scleroderma, as well as neurological manifestations of progressive systemic sclerosis are rare in adult-onset cases. Neither have been reported in children with progressive systemic sclerosis, either separately or together. We describe a six-year-old girl with nocturnal seizures and Raynaud's phenomenon of three years' duration. She died of cardiopulmonary sclerosis without ever fitting the required criteria of systemic sclerosis. Nailfold capillaroscopy revealed the specific "scleroderma-pattern" and provided the only clue for a diagnosis of progressive systemic sclerosis, confirmed eventually by skin biopsy.

Capillary microscopy during eosinophilic fasciitis in 15 patients: Distinction from systemic scleroderma

purpose: Eosinophilic fasciitis (EF) is a newly recognized syndrome that bears much discussion in regard to its distinction from progressive systemic sclerosis (PSS). In vivo microscopic examination of the nailbed capillaries has elicited the description of a characteristic vascular pattern seen in PSS dermatomyositis, and mixed connective tissue disease. To clarify the capillaroscopic aspects of this syndrome and to seek criteria distinguishing it from PSS, we performed nailbed capillary microscopy in 15 patients with EF and compared the results of this examination with those in 98 patients with PSS and those in 75 normal control subjects. patients and methods: The diagnosis of EF was made in 15 patients aged 25 to 69 years (average 43 years) who had an acute course, with painful edema and subcutaneous sclerotic induration sparing the extremities. There was a peripheral hypereosinophilia in all 15 patients. Twelve underwent muscle or deep cutaneous biopsy, including the fascia. Nine of these had fascial thickening, and an inflammatory cell infiltrate was observed in eight. The diagnosis of PSS was made in 98 patients, according to the usual criteria. Seventy-five normal control subjects were examined. All the capillaroscopic examinations were performed by one observer. results: None of the patients in the EF group had a scleroderma-like capillaroscopic pattern. Thirteen had normal results of capillary microscopy. Two had a nonspecific organic microangiopathic picture. In the group of 98 patients with PSS, 89 had numerous megacapillaries (p <0.001), seven had a nonspecific organic microanglopathic pattern, and two had normal findings (p <0.001). In the whole group of 75 control subjects, the features were normal. conclusion: Our results show a clear distinction between the results of capillary microscopy in cases of EF and PSS. The normal pattern in EF seems to be another argument for its differentiation from PSS.

Oesophageal motility and lower oesophageal sphincter competence in progressive systemic sclerosis and localized scleroderma.

Oesophageal motility and lower oesophageal sphincter (LOS) competence were investigated in 13 patients with progressive systemic sclerosis (PSS) and in 16 patients with localized scleroderma (LS) by means of oesophageal manometry and 24-h pH monitoring of the distal oesophagus. Results were compared with those of a control group consisting of asymptomatic volunteers. Marked abnormalities in oesophageal motility and in acid exposure in the distal oesophagus were observed in PSS patients only. The mean resting pressure of the LOS was 10.1 +/- 1.5 mmHg in PSS, 21.4 +/- 1.1 mmHg in LS, and 23.8 +/- 2.0 mmHg in asymptomatic controls. Overall sphincter length was 24.1 +/- 3.4 mm in PSS, 31.1 +/- 1.6 mm in LS, and 39.0 +/- 2.0 mm in the control group. Spincter abdominal length was 12.1 +/- 2 mm, 15.4 +/- 1 mm, and 25.0 +/- 1 mm, respectively. The amplitude and duration of oesophageal waves were markedly reduced at 5, 10, and 15 cm above the LOS in PSS patients, with only the upper part of their gullet being spared. An abnormal acid exposure in the distal oesophagus was observed in 84.6% of PSS patients, whereas only 18.2% (2 of 11) of pH-tested LS patients had an abnormal 24-h pH test. These data show that a marked oesophageal involvement is present only in the systemic form of scleroderma. Oesophageal tests may be useful for a circumstantial diagnosis whenever the diagnosis of PSS is uncertain; however, their use does not seem to be justified as routine in patients with LS.

Collagen in the esophageal mucosa of patients with progressive systemic sclerosis (PSS)

Eighteen consecutive patients with an established diagnosis of Progressive Systemic Sclerosis (PSS) underwent different investigative procedures to determine possible esophageal involvement. Esophageal sclerosis was demonstrated by X-ray and manometry in 13 patients. In all patients endoscopic biopsies of esophageal mucosa were obtained. In all biopsies the concentrations of hydroxyproline, hydroxylysine and proline were determined. Patients suffering from PSS involving the esophagus were found to have a significantly higher concentration of collagen specific amino acids (hydroxyproline and hydroxylysine) in the esophageal mucosa (endoscopic obtainable biopsies) than patients with PSS not affecting the esophagus.