Search

Herein, we aimed to explore whether male patients with congenital collagen diseases had a higher risk of inguinal herniation than patients without these diseases. Data were retrospectively collected from the National Health Insurance Research Database of Taiwan. The study cohort included 1,801 male patients diagnosed with congenital collagen diseases based on the ICD-9 CM diagnostic codes; after propensity score matching, the control group comprised 6,493 men without congenital collagen diseases. The primary endpoint was inguinal hernia repair during the observation period. During a median follow-up period of 133.9 months, the risk of inguinal herniation in the collagen group was significantly higher than that in the control group (HR = 2.237, 95% CI 1.646-3.291, p < 0.001). This phenomenon was observed in patients younger than 18 years (HR: 3.040, 95% CI 1.819-5.083, p < 0.001) and in those aged 18-80 years (HR: 1.909, 95% CI 1.186-3.073, p < 0.001). Asian men with congenital collagen diseases are at a high risk of developing inguinal hernias, regardless of age. Detailed physical examination and patient education should be performed for these patients to prevent inguinal herniation., (© 2022. The Author(s).)

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the COL2A1 gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing. It has been shown that clinical forms of spondyloepiphyseal dysplasias predominate in childhood, both with more severe clinical manifestations (58%) and with unusual phenotypes of mild forms with normal growth (25%). However, Stickler syndrome, type I was less common (17%). In the COL2A1 gene, 28 novel variants were identified, and a total of 63% of the variants were found in the triple helix region resulted in glycine substitution in Gly-XY repeats, which were identified in patients with clinical manifestations of congenital spondyloepiphyseal dysplasia with varying severity, and were not found in Stickler syndrome, type I and Kniest dysplasia. In the C-propeptide region, five novel variants leading to the development of unusual phenotypes of spondyloepiphyseal dysplasia have been identified.

There are many interfaces between ophthalmologists and rheumatologists. On the one hand ophthalmologists face the question if an inflammation of the eye is caused by systemic inflammatory rheumatic diseases and on the other hand rheumatologists have to consider that ocular manifestations are relatively common in some inflammatory rheumatic diseases. Furthermore, these ocular manifestations may influence therapeutic decisions of the rheumatologist. This article summarizes which ocular inflammations can be associated with rheumatoid arthritis, connective tissue diseases and vasculitides. The description of acute anterior uveitis in spondyloarthritis and in juvenile idiopathic arthritis is omitted in this article but will be dealt with elsewhere in this issue.

Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that leverages distantly related patients in a health system and population-scale mapping. We utilize genomic data to uncover components of distant pedigrees, in the absence of recorded pedigree information, in the multi-ethnic Bio Me biobank in New York City. By linking to medical records, we discover a locus associated with both elevated genetic relatedness and extreme short stature. We link the gene, COL27A1 , with a little-known genetic disease, previously thought to be rare and recessive. We demonstrate that disease manifests in both heterozygotes and homozygotes, indicating a common collagen disorder impacting up to 2% of individuals of Puerto Rican ancestry, leading to a better understanding of the continuum of complex and Mendelian disease.

Many previous reports have indicated that atypical femur fractures (AFFs) are associated with the administration of bisphosphonates (BPs). A number of risk factors and hypotheses regarding the pathogenesis of AFFs have been reported to date. The purpose of the present study was to identify the factors associated with AFFs in Japanese individuals and to elucidate the association between bone metabolism and AFFs by evaluating bone turnover markers (BTMs). We prospectively reviewed all patients with femur fractures and identified the patients with AFFs and typical femur fractures (TFFs). We collected the demographic and clinical data that were relevant to the present study, namely age, gender, affected side, affected site, concomitant medical history, and comorbid conditions, and measured the levels of BTMs within 24h after trauma. Welch's test and Fisher's exact probability test were used for the statistical analyses. A total of 338 patients, including 10 patients with AFFs and 328 patients with TFFs, were analyzed under the inclusion criteria. The use of BPs (p<0.001) and collagen disease and chronic granulomatous disease (CD/CGD) (p=0.025) were more frequently observed in patients with AFFs than in patients with TFFs, while the levels of BTMs, including N-terminal propeptides of type 1 procollagen (P1NP), isoform 5b of tartrate-resistant acid phosphatase (TRACP-5b) and undercarboxylated osteocalcin (ucOC) were significantly lower in patients with AFFs than in patients with TFFs. Furthermore, the level of TRACP-5b was found to be significantly lower in patients with atypical subtrochanteric fractures than in atypical diaphyseal fractures (p=0.025). Moreover, the levels of P1NP (p=0.016) and TRACP-5b (p=0.015) were found to be significantly lower in patients with AFFs than in patients with TFFs in a subgroup analysis of BPs users. The use of BPs was considered to be a factor associated with AFFs. Our comparison of the BTMs in patients with AFFs and TFFs indicated that the severe suppression of bone turnover was associated with the pathogenesis of AFFs. The extent of the influence of suppressed turnover on the pathogenesis of AFFs may differ depending on the fracture site., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Aims/introduction: Although high-dose glucocorticoids have been reported to cause new-onset diabetes mellitus (glucocorticoid-induced diabetes mellitus), its risk factors have remained to be determined. We investigated the risk factors related to glucocorticoid-induced diabetes mellitus diagnosed within 2 months after the high-dose treatment (newly treated with an initial high dose of > 20 mg prednisolone (PSL) equivalent per day for at least more than 6 months) in collagen vascular diseases., Methods: A total of 2,631 patients with collagen vascular diseases was registered between 1986 and 2006 in the Chiba-Shimoshizu Rheumatic Cohort. We analyzed 681 patients newly treated with high-dose glucocorticoid who did not have diabetes mellitus and/or its previous diagnosis (age: 46.3 ± 16.7 years, PSL dose: 40.0 ± 14.1 mg/day). Glucocorticoid-induced diabetes mellitus was diagnosed by two or more glucose measurements in patients with fasting glycaemia ≥ 7 mmol/L and 120 minutes post-load glycaemia ≥ 11.1 mmol/L., Results: Glucocorticoid-induced diabetes mellitus was observed in 26.3% of patients, and the glucocorticoid-induced diabetes mellitus group had higher age, higher BMI, lower rates of females and systemic lupus erythematosus, higher rates of smoking, alcohol use, and microscopic polyangiitis. Multivariate logistic regression analysis demonstrated that the risk of glucocorticoid-induced diabetes mellitus was independently higher in every 10-year increment of initial age with adjusted odds ratio (OR) 1.556 (95% confidence interval: 1.359 - 1.783), in every 1 kg/m2 increment of BMI with OR 1.062 (1.002 - 1.124), in current smoking with OR 1.664 (1.057 - 2.622), and in every 10 mg increment of initial dose of prednisolone with OR 1.250 (1.074 - 1.454)., Conclusions: High-dose glucocorticoids caused diabetes mellitus with high prevalence within a short period, and current smokers should be considered at higher risk of glucocorticoidinduced diabetes mellitus in addition to age, BMI, and initial dose.

Degenerative lesions of the peripheral retina are present from teenage years onwards and increase with age. These abnormabilities are frequent, some of them being benign while others predispose to retinal tears and detachment. In the latter case, the lesions are rhegmatogenous and may justify prophylactic treatment by laser photocoagulation. We distinguish congenital lesions of the peripheral retina and intraretinal, chorioretinal and vitreoretinal degenerations. The holes and tears observed in 2% of the population consist of round atrophic holes, "horseshoe" tears, oral dialyses and giant tears., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Disorders of collagen are associated with a mild bleeding tendency because of the potential abnormal interaction of collagen, von Willebrand factor (VWF) and platelets required during primary haemostasis and due to generalized soft tissue fragility. Abnormal collagen may contribute to bleeding in existing mucocutaneous bleeding disorders, but the prevalence in this setting is unknown. Generalized symptomatic joint hypermobility (SJH) is common in collagen disorders and may be objectively measured. To assess the association between symptomatic joint hypermobility and mucocutaneous bleeding disorders, we performed a case-control study in which case subjects were 55 consecutive individuals who had visited our bleeding disorder clinic with a diagnosis of von Willebrand disease, low von Willebrand factor levels, mild platelet function disorder or undefined bleeding disorder. Controls were 50 subjects without a bleeding disorder, and were age and gender matched to the cases. All subjects were assessed with: (i) Beighton score for joint hypermobility, (ii) revised Brighton criteria, (iii) Condensed MCMDM1-VWD bleeding questionnaire, and (iv) haemostasis laboratory studies. The prevalence of SJH/suspected collagen disorder in the bleeding disorder clinic was 24% (13/55) compared with 2% (1/50) in the control population (OR 15, 95% CI 2-121). Seventy-seven per cent of bleeding disorder clinic SJH subjects (10/13) had a prior personal or family history of Ehlers-Danlos, Benign Joint Hypermobility Syndrome or Osteogenesis Imperfecta (OI). Symptomatic joint hypermobility was associated with increased odds of an underlying mucocutaneous bleeding disorder. These findings suggest that a collagen disorder is common and often unrecognized in the bleeding disorder clinic as a potential contributor to the bleeding symptoms., (© 2012 Blackwell Publishing Ltd.)

Introduction and Hypothesis: Pelvic organ prolapse (POP) and other disorders, such as varicose veins and joint hypermobility, have been associated with changes in collagen strength and metabolism. We hypothesized that these various disorders were more prevalent in both POP patients and their family members., Methods: In this study, the prevalence of various collagen-associated disorders, including POP, was compared between POP patients (n = 110) and control patients (n = 100) and their first and second degree family members., Results: POP patients reported a higher prevalence of varicose veins, joint hypermobility and rectal prolapse and were more likely to have family members with POP as compared to the control group (p < 0.01). In contrast, the family members of the POP group did not report a higher prevalence of collagen-associated disorders compared to the family members of the control group (p = 0.82)., Conclusions: POP and other collagen-associated disorders may have a common aetiology, originating at the molecular level of the collagens.

Background: Eosinophilic pleural effusion (EPE) is defined by an eosinophil count of ≥10% in the pleural fluid and often caused by air or blood in the pleural space. The diagnostic significance of EPEs is still a matter of debate., Objective: The objective of this study was to systematically review the medical literature to evaluate the diagnostic significance of EPEs., Methods: Electronic databases were searched from 1950 to April 2010 to perform a meta-analysis. Data were extracted using standardized forms, and pooled odds ratios with 95% confidence intervals were calculated. A logistic regression analysis was also performed to evaluate the association between the pleural eosinophil counts and the likelihood of underlying causes of EPEs., Results: We identified a total of 687 cases of EPE. The most common cause of EPEs was malignancy (26%) followed by idiopathic (25%) and parapneumonic (13%) effusions. The likelihood of malignancy or tuberculosis was somehow lower in EPEs than in non-EPEs, but the differences were not statistically significant. The prevalence of malignancy was significantly lower in the group of patients that required a pathologic confirmation (21 vs. 30%; p = 0.01). The likelihood of malignancy was inversely correlated with the pleural fluid eosinophil counts. The likelihood of idiopathic effusion was significantly higher in EPEs than in non-EPEs., Conclusions: Malignancy was the most common cause of EPEs. EPEs appeared to be a negative predictor of malignancy when a pleural fluid eosinophil count was extremely high. EPEs were more likely to be idiopathic as compared with non-EPEs., (Copyright © 2011 S. Karger AG, Basel.)

Acquired reactive perforating collagenosis is a unique perforating dermatosis, characterized clinically by umbilicated hyperkeratotic papules or nodules and histologically by a focal hyperkeratosis in direct contact with transepidermal perforating dermal collagen. Several inflammatory or malignant systemic diseases may coexist with acquired reactive perforating collagenosis. The possible biochemical or immunological mechanisms of the systemic diseases, potentially responsible for the development and appearance of acquired reactive perforating collagenosis, are still under investigation. Several topical treatments, ultraviolet B phototherapy and allopurinol p.o. administration may be effective.

Collagen diseases have been generally thought to be rare, but the number of patients with rheumatoid arthritis(RA) becomes over 700,000 in recent days. In addition, the survival rate has markedly increased, but many lupus patients are still suffering from so called intractable organ involvements such as severe lupus nephritis and CNS lupus, etc. The main purposes of the treatment for RA are to prevent bone/cartilage destruction, to improve the quality of life(QOL) of patients, and to improve prognosis. For these purposes, new type of drugs such as biologic agents are introduced, and showing remarkable effects comparing with conventional DMARDs. But the side effects and cost of these agents are becoming problems. To overcome these problems, the epidemiology that can clearly show the benefits of these agents on daily life of patients is becoming much more important issue.

Thin glomerular basement membrane disease (TBMD) is a hereditary nephropathy characterized by thinning of the glomerular basement membrane evinced by electron microscopy and, clinically, by isolated hematuria without extrarenal manifestations. Familial aggregation is found in 50-60% of cases, with autosomal dominant transmission. TBMD is considered to belong to the type IV collagen spectrum of diseases, since heterozygous mutations of the COL4A3 or COL4A4 gene have been detected in more than 30% of patients. The disease is found in 1-2% of biopsies, but the prevalence in the general population may be higher. The differential diagnosis with Alport's syndrome may be difficult and requires accurate family investigations, immunohistochemical evaluation of type IV collagen alpha chains in renal tissue and, if appropriate, genetic studies. Progression towards chronic renal failure, although rare, has been reported in some patients, and may be related to the phenotypical variability of COL4A3/COL4A4 mutations, to a missed Alport syndrome, or to superimposed glomerular disease. Patients suffering from TBMD and affected relatives should be periodically examined for signs of disease progression and informed about the possibility of transmitting the autosomal recessive form of Alport's syndrome.

History: A 60-year-old man with diabetes mellitus and chronic renal insufficiency needing hemodialysis was admitted with a 3 months history of multiple hyperkeratotic papules on the trunk and extremities partly ulcerated with a keratotic central plug., Investigations: Laboratory tests revealed elevated levels of blood urea nitrogen, creatinine, and HbA (1c). Histopathology showed vertical strands of collagen perforating from the ulcerated lesions. COURSE, DIAGNOSIS AND TREATMENT: The biopsy specimen was consistent with acquired reactive perforating collagenosis. The progression was stopped and secondary wound healing was initiated after two weeks of therapy with allopurinol and PUVA., Conclusion: Acquired reactive perforating collagenosis should be considered when ulcera with oystershell-like keratotic plugs are found especially in patients with predisposing diseases like diabetes and renal insufficiency. A good interdisciplinary cooperation between internist and dermatologist is crucial for the early recognition by histopathology and the immediate treatment.

Object: This study was undertaken to investigate the frequency of pulmonary hypertension (PH), and clinical parameters associated with PH in patients with idiopathic interstitial pneumonias (IIPs) and collagen vascular disease-associated interstitial pneumonias (CVD-IPs)., Patients and Methods: Retrospective analyses were performed in 163 consecutively enrolled patients (78 IIPs and 85 CVD-IPs) who were being evaluated for PH by Doppler echocardiography. PH was defined as an estimated systolic pulmonary artery pressure (sPAP) of > or = 40 mmHg. The frequency of PH was evaluated and clinical parameters were compared between patients with PH and those without PH., Results: Among patients successfully evaluated for sPAP by echocardiography, 20 of 70 (28%) patients with IIPs and 17 of 80 (21%) patients with CVD-IPs had PH. Among patients with IIP and CVD-IP, those with PH were more frequently treated with supplemental oxygen. Patients with IIP who had PH tended to be older and had decreased % diffusion capacity of carbon monoxide (%DLCO). Additionally, in patients with IIP, sPAP was negatively correlated with %DLCO. However, this association was not found in patients with CVD-IP. Patients with CVD-IP who had PH were predominantly male., Conclusion: PH was frequently observed in patients with both IIPs (28%) and CVD-IPs (21%) in the chronic phase of the disease. PH should be evaluated in patients with IPs who need supplemental oxygen, IIP patients with decreased diffusing capacity, and in patients with CVD-IP.

The purpose of this paper is to diagnose the patients with ocular sicca syndrome in major collagenosis, to evaluate the clinical and histopathological lesions, related to stage of the disease and to establish significant correlations between the different clinical tests for qualitative and quantitative determination of lacrimal tear and the severity of ocular disorders. Dry eye disease is a very common disorder of tear film in collagen diseases. The gender ratio is 6/1 female/man. The most severe dry eye symptoms are also presented at women. The diagnostic and the treatment of dry eye rest difficult because of lack of accepted diagnostic criteria and lack of standardized, specific diagnostic tests. The results of this study have revealed that the ophthalmologic examination is necessary to all the patients with collagenosis who present ocular symptoms. The ophthalmological exam will contain qualitative and quantitative tests of lacrimal evaluation and a methodic biomicroscopic examination of corneo-conjunctival surface without and with vital staining. Rheumatoid arthritis is the collagen diseases which most frequently associates ocular sicca syndrome in mild and medium clinical forms.

Objectives: To investigate fever of unknown origin (FUO) in 97 patients and compare geriatric and adult population., Methods: We investigated 97 (22 elderly) patients with FUO using the criteria of Petersdorf and Beeson [Medicine 40 (1961) 1] hospitalized between January 1990 and May 2005 at Hacettepe University Hospital., Results: Infectious diseases were the most common cause in the adult (33.3%) and the elderly (45.5%) patients both. Neoplasms were seen in 18.7; 4.5% and collagen vascular diseases were diagnosed in 9.3; 4.5% of the adults and the elderly respectively. Tuberculosis accounted for 60% of all the infectious causes and empirical anti-tuberculous treatment served as a diagnostic method in 43% of the cases with tuberculosis. Lymphadenopathy was more common among the adults with FUO. A diagnosis could be reached in all the elderly patients with a very high erythrocyte sedimentation rate (ESR>100mm/h). At the end of the hospitalization, 14.7% (11/75) of the adult patients and 13.6% (3/22) of the elderly patients died., Conclusion: Geriatric patients with FUO usually have characteristics similar to the adult patients with respect to the hospitalization time, diagnosis, and inpatient mortality. Lymphoid organ hyperplasia might be expected less frequently and very high ESR might be a more reliable indicator of systemic disease in the elderly. Empirical anti-tuberculous treatment plays an important diagnostic role in the developing countries with a higher prevalence of tuberculosis.

Encouraged by the positive relationship between joint laxity and panic anxiety, our objective in this study was to compare widespread cultural fears in subjects with and without joint hypermobility syndrome and to assess whether this relationship is sustained for common fears as well. A sample consisting of 1,305 subjects from a rural town were assessed for joint hypermobility syndrome using Beighton's criteria. We assessed fear intensity and frequency using a modified version of the Fear Survey Schedule (FSS-III). Intense fears, defined with a score of 3-4, were compared between hypermobile and nonhypermobile subjects. The analysis was carried out separately for men and women. Nonparametric analysis was applied throughout. Joint hypermobility syndrome was found in 19.9% (141) of women and 6.9% (41) of men. Concerning the fear survey, when we compared the groups with and without joint hypermobility, the mean total scores for both genders were significantly higher for the hypermobile group. When we analyzed each item individually, 43 out of the 44 most severe fears in women and 36 out of the 39 in men, scores were significantly higher in the hypermobile group. We found significant differences between subjects with and without joint hypermobility when assessing specific fears, reinforcing the hypothesis that intensity of fears is greater in subjects with joint hypermobility syndrome. These results show that the association of joint laxity and phobic anxiety is sustained for intense fears and might represent a susceptibility factor for these anxiety conditions.

Functionally relevant damage caused by chronic systemic inflammatory disorders of autoimmune and/or unknown origin can be reduced or sometimes avoided by early initiation of treatment. This requires a correct diagnosis which makes treatment as early as possible. Due to the often uncharacteristic symptoms at the onset of disease, early diagnosis in systemic inflammatory disorders represents a diagnostic challenge. This review outlines current standards and limitations in the early diagnosis of rheumatoid arthritis, collagen vascular diseases and primary systemic vasculitides. Recent advances especially in serology and imaging techniques have improved early diagnosis of systemic inflammatory disorders.

Collagen-vascular diseases are associated with immune dysregulation and inflammation, leading to tissue destruction or compromise. Immunosuppression is more commonly associated with the drugs used to treat these disorders than with the diseases themselves. The newest agents being used to treat collagen-vascular diseases are the tumor necrosis factor (TNF)-alpha inhibitors. U.S. Food and Drug Administration-approved TNF-alpha inhibitors have differing effects on the immune system, reflecting their potency and mechanisms of action. They are particularly effective in breaking down granulomatous inflammation, which makes them effective treatment for sarcoidosis and Wegener's granulomatosis. This same property makes them likely to break down the host defense mechanism that normally contains pathogens such as mycobacteria and fungi in a dormant state, namely the physical and immunologic barrier formed by granulomas in the lung and elsewhere. The most common infection reported with the TNF-alpha inhibitors has been tuberculosis, which may manifest as pulmonary and/or extrapulmonary disease, with the latter being more common and severe than usual. Histoplasma capsulatum, Aspergillus, Cryptococcus neoformans, and Listeria monocytogenes have also been described in a number of cases, and their frequency is discussed.

Pulmonary hypertension is a serious but often overlooked complication in collagen vascular disease. The understanding of the development of pulmonary hypertension has increased substantially during the last years. Abnormal proliferation of pulmonary vascular cells is now being regarded as a predominant process leading to pulmonary vascular obliteration. Medical therapy focuses on prostacyclin treatment, which has been shown to improve exercise capacity and haemodynamic variables in patients with several collagen vascular diseases and pulmonary arterial hypertension. Continuous intravenous prostacyclin remains the standard treatment of associated pulmonary hypertension but less invasive alternatives such as subcutaneous treprostinil, oral beraprost or aerosolized iloprost, as well as, novel substances such as endothelin receptor antagonists may be appropriate for selected patients.

Objective: This study aims to examine the distribution of hemolytic complement activity, the prevalence of hypocomplementemia and the disorders causing hypocomplementemia among individuals taking part in a mass screening program., Methods: The subjects consisted of 1340 male Japanese participating in a mass screening program at a Ground Self-Defense Force base in Asaka. We measured the hemolytic complement activity (CH50) after overnight fasting. The CH50 levels for hypercomplementemia and hypocomplementemia were defined as those outside the range of mean +/- 2 SD, respectively. We next measured the concentration of complement components: CIq, C4, B, C3, C5, C9, and C1-inhibitor for men with hypocomplementemia. Rheumatoid factor, ANA, HBsAg, HbsAb, and HCVAb were also measured., Results: The mean +/- SD of age was 43.7 +/- 5.7. The CH50 levels ranged from 7.2 to 66.4 U/ml (mean +/- SD = 37.1 +/- 4.0 U/ml). Twenty-one and 37 men were classified as having hypocomplementemia (CH50 < 29.1 U/ml) and hypercomplementemia (CH50 > 45.1 U/ml), respectively. The age of the individuals with hypocomplementemia was 43.9 +/- 5.6 (Mean +/- SD) years. Three men with C9 deficiencies, 2 men with C5 deficiencies and 7 men with cold activation were identified among the 21 hypocomplementemic men. Three hepatitis C and 2 hepatitis B patients were also found among the 21 hypocomplementemic men. Other disorders found among the hypocomplementemic men were 3 glomerulonephritides and 1 possible SLE., Conclusion: We examined the distribution of CH50 levels in 1340 adult male Japanese. We identified 21 men with hypocomplementemia, and also found 5 cases of complement component deficiencies among 21 hypocomplementemic men. In addition the measurement of the complement activity may have also helped detect the presence of hepatitis, hypocomplementemic glomerulonephritis and collagen disease at an early stage.

Purpose: To investigate the prevalence of normal-tension glaucoma (NTG) and primary open-angle glaucoma (POAG) in patients with collagen diseases and determine whether an immunocompromised condition is present in a subset of glaucoma patients., Methods: Three glaucoma specialists prospectively examined patients with collagen diseases. The diagnostic process included applanation tonometry, slit-lamp examination, gonioscopy, direct ophthalmoscopy, and automated static perimetry. Twenty-four-hour intraocular pressure monitoring was done when necessary. Using the results of a population-based survey conducted in Japan, we calculated an expected number of cases of NTG and POAG, and compared these with the actual number of cases., Results: Of the 153 patients with collagen diseases examined, we found 6 patients with NTG and 2 patients with POAG. Of these 8 patients, 2 with progressive systemic sclerosis (PSS), one with NTG, and the other, POAG, had a history of being on systemic steroidal therapy. The prevalence of NTG and POAG was significantly higher in women patients having collagen diseases as compared with normal women (P = .027)., Conclusion: Women patients with collagen diseases are highly susceptible to NTG and POAG.

Background: Epidemiologic studies of alopecia areata (AA) are available from USA, Japan and European countries, but there is a paucity of literature on AA from Asian countries, especially from the Indian subcontinent., Methods: In a prospective, hospital-based study lasting for a decade (1983-1992), the epidemiology of AA was studied, including associated diseases and risk factors for development of severe AA. Simultaneously a similar study was carried out in age- and sex-matched controls., Results: Eight hundred and eight patients (532 men, 276 women) and 572 age- and sex-matched controls (370 men, 202 women) were studied. The incidence of AA was 0.7% of new dermatology outpatients. The majority of patients (712, 88%) were below 40 years of age, including 196 children < 16 years of age (24%). Almost half (46%) of the women patients had onset of AA in childhood, compared to only 19% in men (P < 0.001). Alopecia was total, universal, or extensive in 154 patients (19%). An onset in the first two decades was more often associated with severe alopecia (P < 0.001), especially in men (P < 0.01). Alopecia areata was recorded in family members of 70 patients (9%), being more frequent in the severe forms of AA (16%). Evidence of atopy was recorded in a total of 146 instances (18%). The frequency of atopy was the same in circumscribed alopecia (18.1%) and severe alopecia (18.2%). Nail changes were found in 162 patients (20%) and were more frequent in 76 (47%) with the severe form of AA (P < 0.001). On 39 occasions (5%), autoimmune-related diseases were detected: vitiligo in 15 (1.8%), thyroid disorders in 8 (1%), lichen planus in 6 (0.7%), collagen vascular diseases in 5 (0.6%), diabetes mellitus in 4 patients (0.4%), and pemphigus foliaceus in 1 (0.1%) patient. Patients with family members having vitiligo (recorded in 5.9% of patients), were more frequently affected with severe alopecia (P < 0.001)., Conclusions: Alopecia areata in North Indians showed a preponderance in men (M:F = 2:1) and the majority of persons with disease (88%) were below 40 years of age. Onset in childhood was more frequent in girls or women, but the incidence of severe alopecia was higher in boys or men with onset at an earlier age. Diseases associated with autoimmunity were seen in only 5% of patients. Atopy was found to be associated in 18% of patients, but its reported association with younger age of onset and severe alopecia was not confirmed. Presence of vitiligo in family members and onset before 20 years of age, especially in boys or men, were found to be risk factors for severe alopecia.

The incidence and prevalence of collagenous colitis are unknown. An epidemiological study was undertaken between 1984-93. All patients living in the immediate catchment area of Orebro Medical Center Hospital with the diagnosis collagenous colitis were identified. Biopsy specimens classified as unspecific intestinal fibrosis were re-examined to identify cases not correctly diagnosed at first. Medical records were scrutinised and colorectal biopsy specimens re-evaluated. Thirty patients with collagenous colitis were diagnosed during the study period. The female:male ratio was 9:1. The median age at diagnosis was 64 (28-78) years. The prevalence at 31 December 1993, was 15.7/10(5) inhabitants (95% CI; 9.8 to 21.6/10(5)). The mean annual incidence during the period 1984-93 was 1.8/10(5) inhabitants (95% CI; 1.2 to 2.4/10(5)). A peak incidence was found in women 70-79 years old. Collagenous colitis occurs mainly in middle aged women, and the frequency is higher than earlier anticipated. The prevalence and incidence is similar to primary biliary cirrhosis. In women 70-79 years of age, the incidence for collagenous colitis approaches the incidence for ulcerative colitis.

To determine pulmonary features of collagenous vascular diseases as assessed by high resolution computed tomography (HRCT) we performed a prospective study of 73 consecutive patients, 44 with rheumatoid arthritis (ra), 11 with progressive systemic sclerosis (pss), 8 with systemic lupus erythematosus (sle), 5 with sjögren's syndrome, 3 with dermato-/polymyositis and 2 with mixed connective-tissue disease. Pathological lung changes were demonstrated in 70% of patients with ra, 91% with pss, 63% with sle and 60% with the rest. HRCT features included: intralobular thickening (48%) with a predominance in posterior lower and middle lung areas, pleural thickening (48%) with a predominance in upper lung areas, prominent interlobular septa (37%), subpleural lines (33%), parenchymal bands (33%) with a predominance in lower and anterior lung areas, honeycombing (33%), ground glass pattern (29%) with a predominance in upper and middle, micronodules (18%) with a predominance in upper lung areas and bronchiectasis (14%). HRCT is an important means for the assessment of lung changes associated with collagenous vascular diseases and a definite diagnosis is possible in most cases.

To estimate whether the lung abnormalities seen in collagen vascular diseases (CVD) were similar or distinct to those seen in idiopathic pulmonary fibrosis (IPF), and to ascertain whether the extent of the abnormalities on high-resolution CT (HRCT) correlated with pulmonary function, we reviewed HRCT findings and pulmonary function test results of 64 patients with either CVD (n = 55) or IPF (n = 9). Response to corticosteroid treatment was also evaluated in 20 of the 64. High incidence of honeycomb lesion was observed in IPF (9/9, 100%) and in progressive systemic sclerosis (PSS) (11/14, 79%). CVD, except for PSS, had a low incidence of honeycomb lesion (27%). On the other hand, incidence of ground-glass shadow in CVD (47/55, 85%) was the same as that in IPF (8/9, 89%). Diffusing capacity significantly correlated with the extent of all parenchymal abnormalities in all CVD and IPF, with honeycomb lesion in PSS, and with ground-glass shadow or air-space consolidation in CVD except for PSS (r < -0.7, P < 0.001). In all 15 cases in which corticosteroid therapy was effective, no honeycomb lesions were seen. Collagen vascular disease, except for PSS, had a different pattern of disease than IPF. The morphologic changes seen on HRCT correlated well with pulmonary function in CVD.

Collagenous colitis should be added to the differential diagnosis of chronic, watery, nonbloody diarrhea with normal endoscopic findings. Patients with collagenous colitis are often middle-aged women previously diagnosed as having irritable bowel syndrome. The diagnosis of collagenous colitis is based on histologic evaluation of a rectal biopsy specimen. Biopsy shows a thickened, subepithelial, acellular, eosinophilic collagen band. Symptoms often resolve after treatment with oral sulfasalazine.

The prevalence of several paraneoplastic syndromes associated with ovarian cancer was determined from a clinicopathological study of 908 patients with primary ovarian malignancy in the North East Thames Region. The diversity and rarity of these manifestations are great and the explanation for them is difficult. Circumstantial evidence suggests that in some cases an autoimmune phenomenon is the most plausible cause.

The incidence and latency period of collagen vascular disease (CVD) were surveyed prospectively in patients originally diagnosed as idiopathic interstitial pneumonia (IIP). We also examined whether there were differences between IIP and CVD preceded by interstitial pneumonia. Background information, extrapulmonary symptoms, smoking history, laboratory findings, prognosis (Kaplan-Meier estimates), respiratory functions, and radiological findings were compared. The subjects consisted of 68 patients of whom 13 (19%) developed CVD (RA; 5 cases, DMPM; 5 cases, SLE; 1 case, Sjoegren syndrome; 1 case, Overlap syndrome; 1 case). The latency period for development of CVD was 24.9 +/- 39.2 (mean +/- SD) months. IIP patients who developed CVD were predominantly female and were younger than those without CVD (p less than 0.05). These patients also had faster ESR, higher CPK values, and a higher incidence of arthralgia, joint deformity and clubbed fingers (p less than 0.05). Abnormal shadows around costo-phrenic angles were seen more frequently in patients with CVD (p less than 0.05). These results suggest that quite a number of patients with IIP develop CVD. The clinical course of these patients should be followed by keeping these clinical findings in mind.

Examination surveys to document the frequency and distribution of the rheumatic diseases in populations were largely pioneered by the efforts of Kellgren and Lawrence in England starting in the 1950s. The purpose of these surveys was primarily to gain insight into the extent and types of rheumatic diseases and their associated morbidity in representative population samples. From such studies the relative frequency of the common rheumatic diseases was defined and their occurrence in relation to their age and sex distribution within the population described. The methodologies devised for this purpose contained detailed historical, clinical, radiological, and serological components which were then applied by a number of investigators in different countries. The results of these surveys raised questions concerning diagnostic criteria, and led to the realization that diagnostic categorization in the population at large was often more difficult than in the rheumatology clinic.

Five hundred new patients seen at a rheumatology clinic during the first three years of specialist practice were categorised according to diagnosis, age and sex, source of referral, geography of referral and follow up data. Degenerative joint disease was diagnosed in 33.4% of patients; inflammatory joint diseases in 29.4% and soft tissue rheumatism in 9.4%. Connective tissue diseases were rarely encountered (2%) and in 10.4% of patients the diagnosis was uncertain or undetermined. The age range was 6 to 85 years and the mean age 46. Sixty-nine percent of patients were women. General practitioners referred 85.2% of patients and 57.2% of the total patients seen lived within 20 km of the hospital, an area containing approximately 84,000 people. After three years all patients with inflammatory joint diseases and connective tissue diseases were still attending the follow-up clinic compared to 40% of those with non-inflammatory joint diseases. From the data collected, only a small percentage of patients with rheumatic complaints in the community were referred to the clinic and the dichotomy between academic and practical rheumatology was apparent.

Although in higher age degenerative diseases of the spine and joints preponderate, the portion of inflammatory rheumatic diseases is relatively high, and may raise difficult diagnostic problems. Prevalence of rheumatic fever, ankylosing spondylitis, gout and some connective tissue diseases starting in higher age is low and their course is more benign and milder than in earlier age groups. Chondrocalcinosis (pseudogout) and polymyalgia rheumatica are typical rheumatic diseases of higher age. Rheumatoid arthritis with first onset in higher age is also not rare. This disease may start explosively and may run a progressive course. Very hig blood sedimentation rate, early arthritis of shoulder joints and symptoms of a severe general disease often are the leading symptoms. Diagnostic similitarities with other diseases like malignant tumors or with paraneoplastic arthritis may mislead in diagnosis of senile rheumatoid arthritis.

A case of collagenous colitis in a patient with ileal carcinoid is described. Considerable fibrofatty thickening of the small bowel mesentery was present. The association of these findings appears to be unprecedented. Further observations are required to ascertain that collagenous colitis is one of the protean manifestations of carcinoid tumor.

Seventy-one children with the diagnosis of systemic lupus erythematosus (SLE) (39 cases), dermatomyositis (25 cases), or scleroderma (7 cases) were studied retrospectively. The children with SLE were much sicker than those with the other two diseases and were found to have a poorer prognosis than adults with SLE. In general, the earlier the age of onset, the poorer the prognosis. Early gastrointestinal bleeding, abnormal renal findings, and cardiac abnormalities heralded early death from SLE. The peak incidence of SLE near the time of puberty suggests hormonal influence on this disorder in children. Survival rates and morbidity improved as the treatment improved. Corticosteroids were the main therapeutic agents. The patients with scleroderma also received varying doses of vitamin E, penicillamine, chloroquine hydrochloride, and salicylates. The antimetabolites were used to treat SLE starting in the late 1960s.