An interesting case of dermatomyositis with classical presentation

Dermatomyositis, a connective tissue disorder, is an idiopathic inflammatory myopathy characterised by skin manifestation.The diagnosis of dermatomyositis is based on rashes on the skin, progressive muscle weakness, elevated serum muscle enzymes, abnormal electromyogram, and abnormal findings on muscle biopsy. Hereby presenting this rare case of a 57-year-old female with dermatomyositis with all the typical clinical findings with interstitial lung disease.

Correlation of Six Minute Walk Test and Lung Function Test Variables (% FEV1, % FVC, % DLCO) in Patients with Connective Tissue Disorder - Interstitial Lung Disease

Interstitial Lung Diseases (ILDs) also known as diffuse parenchymal lung disease, include a group of diffuse parenchymal infiltrative lung diseases. A restrictive defect is the most frequent pulmonary abnormality in patients with pulmonary fibrosis which is the usual consequence of many ILDs. Connective tissue disorders are usually rare, but are potentially life threatening conditions. The spectrum of ILD varies from mucocutaneous symptoms, arthralgia / arthritis to impairment of pulmonary and renal function. Systemic Lupus Erythematosus (SLE), Systemic Sclerosis (SSc), Sjogren’s Syndrome (SS), inflammatory muscle diseases and overlap-syndromes are grouped together as connective-tissue disorders. Involvement of lung and its function is the most common form of interstitial lung disease, leading to high morbidity and mortality among the group of connective tissue disorders. We wanted to correlate the 6-Min Walk Distance (6MWTD) with the Pulmonary Function Test values such as % FEV1, % FVC and FEV1 / FVC, among patients with connective tissue disorder associated Interstitial Lung Disease in SRM Medical College Hospital, a tertiary care hospital in Tamilnadu, South India. MethodsThis study was done as a cross sectional analytical study among 31 patients in the Department of Respiratory Medicine, Rheumatology and General Medicine in SRM medical college and hospital. Each patient was explained the purpose of the study and the need for complete co-operation. Those who satisfied the inclusion and exclusion criteria were included. Data was collected using a structured proforma. 6-minute walk test and pulmonary function tests were performed and correlated. ResultsThere appears to be a significant correlation between 6-minute walk test, % desaturation, 6 Minute Walk Test Distance, 6 Minute Walk Test Pre BDI and 6 Minute Walk Test Post BDI with spirometry values especially with the Spirometry FEV 1 %, Spirometry FVC % and % predicted DLCO. Conclusions6MWT can be used as a useful surrogate for pulmonary function tests especially among the population where spirometry is not possible. 6MWT has good reproducibility, is simple to perform and can be used as a screening tool for Interstitial Lung Disease in connective tissue disorder patients.

Advanced keratoconus in a child with juvenile scleroderma

An 18-year-old male presented with complaints of gradually decreasing vision in both eyes for 6 years. He was a diagnosed with juvenile scleroderma at the age of 11 years by a pediatric rheumatologist. Clinical slit lamp examination showed features of ectasia, thinning, Vogt's striae, and apical scarring in both eyes. Bulbar and tarsal conjunctiva was quiet and normal. Corneal tomography revealed mean keratometry 65.8 and 65.4 diopters, thinnest pachymetry of 351 and 224 microns in the right and left eye, respectively. There was no history of itching and eye rubbing in the past. Patients of juvenile scleroderma may have associated keratoconus. The management of advanced keratoconus presents challenges related to handling and insertion of contact lenses in this condition. Keratoplasty is an option in those patients when contact lenses are not acceptable.

Usual interstitial pneumonia - secondary vs idiopathic pulmonary fibrosis

Background: Interstitial Lung Diseases is a group of disorders where the pulmonary interstitium, alveolar structures and the small airways are affected. Identification of a specific pattern on HRCT, with a thorough clinical evaluation can help a physician in narrowing down the differential diagnosis for the underlying cause. Usual Interstitial Pneumonia (UIP) is a frequently identified pattern. Differentiating patients with definite UIP pattern, into IPF and non-IPF spectrums is important. Aim of this study is to compare UIP patients with a secondary cause vs Idiopathic Pulmonary Fibrosis.Methods: Statistically 33 patients having UIP pattern on HRCT were evaluated based on the history of extrapulmonary symptoms, environmental exposure, drugs and subsequent serology testing. Patients were divided into two groups - IPF and UIP with a secondary cause. Both groups were compared on various clinical parameters. Inferences were drawn from the same.Results: Total 66.6% patients were identified to have Idiopathic Pulmonary Fibrosis, 33.3% had UIP with a secondary cause. Majority of patients with a secondary cause had Connective Tissue Disorder (90.9%) and one patient of Chronic Hypersensitivity Pneumonitis (HP).Conclusions: Absence of extrapulmonary symptoms in UIP patients need no further investigations and can be diagnosed as a case of IPF. However, presence of extrapulmonary symptoms needs further evaluation to diagnose the underlying disease and start treatment for the same.

Bamboo node as an unusual cause of Dysphonia in a Filipino patient with mixed Connective Tissue Disease

Introduction@#Bamboo node is a rare vocal cord pathology causing dysphonia among patients with autoimmune disorders. These “bamboo-joint-like” transverse deposits on the vocal cords interfere with the vibratory cycle during phonation leading to voice hoarseness. A review of Schwemmle from 1993-2009, showed seven cases of bamboo node among patients with mixed connective tissue disease (MCTD). With the patient’s consent, this case is presented to contribute to current knowledge about MCTD.@*Case Presentation@#A 36-year-old Filipino female developed voice hoarseness one year after she was diagnosed with MCTD. Videostroboscopic findings revealed bilateral bamboo nodes, vibratory defects, and amplitude abnormalities. Treatment with prednisone, methotrexate, hydroxychloroquine, along with voice rest and speech therapy resulted in normalization of amplitude, mucosal wave and vibratory behavior during repeat videostroboscopy.@*Conclusion@#To date, this is the first known case of bamboo nodes associated with MCTD in a Filipino patient. This case highlights the importance of properly investigating the symptom of hoarseness among patients with rheumatologic diseases. A multidisciplinary approach involving the rheumatologist, otorhinolaryngologist, and speech therapist play an important role in the complete care of this patient.

Periodontitis in marfan syndrome: a case report

A Síndrome de Marfan é uma doença autossômica dominante do tecido conjuntivo, caracterizada por alterações nos sistemas cardiovascular, esquelético e ocular, e que pode aumentar a suscetibilidade à doença periodontal. Esse relato de caso descreve dados periodontais clínicos, microbiológicos e imunológicos de um paciente de 28 anos, gênero masculino, com diagnóstico clínico de Síndrome de Marfan. Neste caso, as principais alterações estão nos sistemas esquelético e ocular. A principal alteração intraoral é a presença de palato profundo e prognatismo mandibular. No exame clínico periodontal, a média do nível clínico de inserção foi de 2,35 mm e índice de sangramento à sondagem de 30%. O tratamento periodontal foi executado em uma sessão de debridamento e orientação de higiene oral, sob antibioticoterapia profilática. Na reavaliação, o paciente apresentou melhora nos parâmetros clínicos periodontais. O relato de caso apresenta um paciente com alterações leves, que afetam a saúde bucal. Em casos de Síndrome de Marfan, a manutenção da saúde periodontal é essencial para um bom prognóstico da saúde bucal.(AU)

Marfan syndrome is an autossomal dominant disorder of connective tissue characterized by alteration in cardiovascular, skeletal and ocular system, and may increase the susceptibility of periodontal disease. This case report describes the clinical, microbiological and immunological periodontal findings in a 28 year old male patient with a clinical diagnosis of Marfan syndrome. The major alterations of the case were in ocular and skeletal system. The major oral alterations were the high arched and narrow palate, and mandibular prognathism. At periodontal examination, an average clinical attachment level loss of 2.35 mm and 30% of bleeding on probing were found. The periodontal treatment was performed, in one session of periodontal debridement with prophylactic antibiotic premedication and oral hygiene instructions. At the revaluation, the patient showed improved clinical parameters. This case report presented a patient with mild features of a genetic disorder which affects oral health. The maintenance of periodontal health in Marfan syndrome cases is essential for a favorable prognosis of oral health.(AU)

Camurati-Engelmann Disease.

Camurati-Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is a connective tissue disorder known for marked variability of its clinical presentation. The authors report CED in a 25-year-old male with atypical involvement of metacarpals (acrosclerosis) and features of neuromuscular disease along with the classical features of the disease.

Pseudoxanthoma elasticum: Description of a late onset case.

Pseudoxanthoma elasticum (PXE) is a genetic multisystem disorder characterized by ectopic mineralization of connective tissues with primary manifestations in the skin, retina and cardiovascular system, and a phenotypic spectrum highly variable.This article presents the case of a 46-year-old male patient with sporadic late-onset PXE, without severe systemic complications.

Intracranial Aneurysm Associated with Tuberous Sclerosis: A Case Report

Tuberous sclerosis is a hereditary connective tissue disorder affecting multiple organs and is associated with a wide variety of abnormalities of the central nerve system. The symptoms vary according to the organ involved and may appear in later life. In connective tissue disorders, vascular anomalies are frequent, though cerebrovascular anomalies are extremely rare. We recently, encountered a case of posterior inferior cerebellar artery aneurysm associated with tuberous sclerosis. This report describes clinical and radiological details of this case and includes a brief review of the literature.