Blau syndrome is characterized by noncaseating granulomatous arthritis, dermatitis, and uveitis, and results from gain-of-function NOD2 mutations. This study was undertaken to identify the genetic cause of the disease in a family with 3 members with Blau syndrome.
A case of sarcoidosis is reported in the hope that this seemingly rare disease in Malaysia will be better recognised. A brief review of the literature is made and various points regarding the aetiology, pathology, clinical features and diagnosis are discussed.
Cardiac sarcoidosis is a disease of young adults. In most cases it presents with sudden death, arrhythmias, conduction disorders, heart failure or cardiomyopathy. The authors describe two cases of myocardial involvement by sarcoidosis that lead to death of the patients. Case one was a 26-year-old Indian man who was previously well and presented with sudden death. Autopsy showed nodules of sarcoid granuloma involving the heart, lungs and lymph nodes. Case two was a 47-year-old Indian lady who complained of reduced effort tolerance. Echocardiography showed that she had restrictive hypertrophic cardiomyopathy with heart failure. Seven months after initial presentation, she developed worsening of heart failure and died. Autopsy revealed involvement of the heart, lungs and liver by sarcoidosis.
Sarcoidosis is a multisystemic granulomatous disease of unknown aetiology mainly affecting African-Americans, Scandinavians, and the Irish. However, individuals of other races and ethnicities are still not immune. The clinical presentations vary widely with most patients having some respiratory problems. Though extrapulmonary sarcoidosis is no longer rare, sarcoidosis involving the lacrimal sac is an infrequently-reported problem. We present a case of sarcoidosis involving the lacrimal sac in a 42-year-old Malay woman who presented with epiphora. She was successfully treated with steroids and dacryocystorhinostomy. There was no evidence of systemic involvement. It is suggested that in an unusual presentation of sarcoidosis, a thorough search should be made for localisation of other sites, lungs in particular, even in the absence of respiratory complaints.
A 59-year-old man presented with proximal myopathy, myalgia, and weight loss, with the initial markedly elevated serum creatine kinase at 11,000 U/L. Due to his refusal for muscle biopsy, he was initially treated as inflammatory myositis and responded well with the corticosteroids. However, he subsequently had a relapse of the symptoms with more extensive systemic involvement, i.e., hypercalcemia, lymphadenopathy and subcutaneous nodules. Finally, a biopsy of the thigh and subcutaneous nodule revealed non-caseating granulomatous inflammation, consistent with sarcoidosis. He responded well to the corticosteroids, and finally, azathioprine was added as a steroid-sparing agent. Including our series, there are 103 cases of symptomatic muscle involvement in sarcoidosis patients published in the English literature to date. Further pool analysis of the cases will be reported in this review.
The aim of this study is to better understand the epidemiological and clinical features of patients with sarcoidosis in Singapore and to ascertain if ethnic differences exist.
Sarcoidosis is characterized by formation of inflammatory granulomas affecting all over the body, with pulmonary predilection (1). Neurosarcoidosis is a rare but potentially dangerous manifestation of sarcoidosis. We report a case of disseminated sarcoidosis presenting with a neurological diagnostic dilemma. Worsening mediastinal lymphade- nopathy, together formation of lung and liver nodules making a sarcoidosis diagnosis favourable. Histology from these lesions showed non-caseating granulomatous inflammation. She was treated as a rare case of disseminated sarcoidosis. To date, there is no specific or clear guideline on the management of disseminated sarcoidosis.
Fourteen cases of sarcoidosis consisting of 7 male and 7 female patients with a mean age of 42.4 years were seen at the University Hospital from 1972 to 1990. There were 10 Indians, 2 Malays, and 2 Chinese. Twelve patients had thoracic involvement. The other common disease manifestations included weight loss, arthralgia, hepatomegaly, erythema nodosum, peripheral lymphadenopathy, and hypercalcaemia. At initial presentation, the disease was in radiographic stage I, II, and III in 8, 3 and one patient respectively. The Kveim test was positive in 7 out of 9 patients. Eight patients required steroid therapy.
Cavitary lung lesions of various etiologies may be encountered in patients with respiratory symptoms associated with fever. Non-malignant cavitary lesions may mimic malignant lung lesions on most of radiographic modalities including chest radiographs or thoracic computed tomography (CT). Primary lung malignancy can be detected in as high as one-fifths of CT thorax as cavitary lesions and the remaining aetiologies may be due to bacterial, parasitic, and invasive fungal infections, as well as Granulomatosis with polyangiitis (GPA), sarcoidosis, septic thrombo-embolism, and lung metastasis from extra-pulmonary primaries. We report an interesting case of melioidosis infection complicated with pulmonary embolism, both of which can lead to cavitary lung lesions and subsequently cause a clinical conundrum.
We report two cases of body piercing as a religious practice that subsequently led to the development of granulomatous nodules at previously punctured sites of the skin and oral mucosa. These lesions were diagnosed as sarcoid-like foreign body reaction after other possible causes including sarcoidosis, tuberculosis, tuberculoid leprosy, fungal infections, viral infections, and Crohn's disease were excluded.
Sarcoidosis is a chronic, multisystem disorder. A 38 years old lady presented at Hospital Raja Perempuan Zainab II, Kota Bharu ,Malaysia with cough and breathless for 2 months and constitutional symptoms of weight loss and loss of appetite. She was initially treated as smear negative pulmonary tuberculosis for 5 months. However, her clinical condition deteriorated with worsening New York Heart Association (NYHA) class 1 to class 3. Subsequently, workout of computed tomography( CT) thorax showed multiple perilymphatic distribution of nodules and multiple mediastinal lymphadenopathy coupled with pleura biopsy showed non caseating granuloma and cardiac magnetic resonance imaging (MRI) with positive late gadolinium enhancement revised the diagnosis of pulmonary sarcoidosis with cardiac involvement. Patient's functional status and cough improved with immunosuppresant was given in tapering dose fashion.
A 40-year-old man presented with floaters and painless progressive blurring of vision in the right eye for one month duration. Visual acuity in the right eye was 6/24. There was mild anterior chamber reaction and vitritis. The optic disc was swollen and elevated with presence of granulomatous lesion in the optic disc head. Blood investigations were unremarkable. Serum angiotensin converting enzyme (ACE) was normal and conjunctival biopsy showed presence of inflammatory cells. B-Scan ultrasound revealed an echo-dense lesion in the optic nerve head. There was increased uptake of the right lacrimal gland and presence of 'Panda sign' with Gallium scan. A diagnosis of right ocular sarcoidosis was made base on the clinical features and Gallium scan.
Bronchiolitis manifests as a variety of histological features that explain the complex clinical profiles and imaging aspects. In the period between January 2011 and June 2015, patients with a cryobiopsy diagnosis of bronchiolitis were retrospectively retrieved from the database of our institution. Clinical profiles, imaging features and histologic diagnoses were analysed to identify the role of cryobiopsy in the diagnostic process. Twenty-three patients with a multidisciplinary diagnosis of small airway disease were retrieved (14 females, 9 males; age range 31-74 years old; mean age 54.2 years old). The final MDT diagnoses were post-infectious bronchiolitis (n = 5), constrictive bronchiolitis (n = 3), DIPNECH (n = 1), idiopathic follicular bronchiolitis (n = 3), Sjogren's disease (n = 1), GLILD (n = 1), smoking-related interstitial lung disease (n = 6), sarcoid with granulomatous bronchiolar disorder (n = 1), and subacute hypersensitivity pneumonitis (n = 2). Complications reported after the cryobiopsy procedure consisted of two cases of pneumothorax soon after the biopsy (8.7%), which were successfully managed with the insertion of a chest tube. Transbronchial cryobiopsy represents a robust and mini-invasive method in the characterization of small airway diseases, allowing a low percentage of complications and good diagnostic confidence.
We would like to report a case of a 29-year-old male patient who presented with multiple lymphadenopathy and vague symptoms of low grade fever, cough, weight loss, rashes, vomiting, dry eyes and dry mouth. Physical examination revealed submandibular lymphadenopathy, vasculitic rashes over both lower limbs, and parotid gland enlargement. Blood investigations showed mild anemia with leukocytosis, predominantly eosinophilia and high erythrocyte sedimentation rate and C-reactive protein. Computed tomography of the neck, thorax and abdomen showed bilateral submandibular, submental adenopathy, mediastinal and para-aortic lymphadenopathy with generalized reticulonodular densities in both lower lobes. There were hepatomegaly and bilateral enlarged kidneys with renal cyst. Histopathological examination from the cervical lymph node later revealed non-caseating granuloma, consistent of sarcoidosis. Patient responded well to prednisolone 50 mg daily with subsequent reduction in the size of cervical lymphadenopathy and parotid swelling.