A clinical study of Thai patients with spondyloarthropathy

Eighty-eight Thai patients (61 males and 27 females) with spondyloarthropathy (SpA) were studied. Their mean age and mean duration of the disease were 25.97 and 3.34 years respectively. In 16 cases the disease first appeared before the age of 16 or had juvenile onset. Eleven cases were ankylosing spondylitis (AS), 9 were juvenile AS (JAS), 20 were Reiter's syndrome (RS), 4 were juvenile RS, 14 were psoriatic arthritis (PsA), 27 were undifferentiated SpA (uSpA), and 3 were juvenile uSpA. Peripheral arthritis, especially oligoarthritis of the lower extremity joints, was the most common form of arthritis in all groups, except for PsA, where polyarthritis was common. Back pain and bilateral sacroiliitis were commonly seen in JAS and AS. Enthesopathy was not uncommon. Extra-articular manifestations were more common in RS patients. Acute inflammatory eye diseases were seen in 45 per cent of AS and 66 per cent of RS cases. In general, the clinical features of Thai patients with SpA were similar to those reported in other countries in Asia and the west.     

Mandatory continuing education--why?

Cutaneous calcinosis is reported in the lesions of a woman with long-standing discoid lupus erythematosus. Calcium deposits were found in the middle and deep parts of the dermis surrounded by homogeneous collagen staining positively with Alcian blue solution. In contrast to the relative frequency of this event in patients with scleroderma or dermatomyositis, calcinosis cutis occurs very rarely in lupus erythematosus. To the best of our knowledge, this is the first report of calcinosis cutis in discoid lupus erythematosus.     

Detection of Francisella tularensis by the polymerase chain reaction

A 27-year-old woman and a 13-year-old girl diagnosed with juvenile dermatomyositis in childhood developed clinical findings of partial lipodystrophy 10 years after diagnosis. Exhaustive clinical and laboratory examinations showed an association with other abnormalities: hypertrichosis, steatohepatitis, and an abnormal insulin response to the glucose loading test in the first patient. Hypertrichosis, steatohepatitis, insulin-resistant diabetes mellitus, and acanthosis nigricans were observed in the second patient. Renal function was normal in both patients. Although a localized form of lipodystrophy has been reported associated with connective tissue disease (connective tissue lipoatrophy), the partial form has been infrequently described in association with juvenile dermatomyositis.     

Spontaneous abdominal hematoma in dermatomyositis

Dermatomyositis is associated with a number of systemic manifestations and diseases. We present 2 patients with dermatomyositis, aged 11 and 50 years, who developed acute abdominal pain, both a result of spontaneous hemorrhage. Hemorrhage was detectable by physical examination in one and on computed tomography scan of the abdomen in the other. Both patients made a full recovery with supportive treatment. While the cause of the hemorrhage was uncertain, in 1 patient massive calcinosis of the abdominal wall was present, and trauma may have been the precipitant. Spontaneous abdominal hematoma is a cause of acute abdominal pain in patients with dermatomyositis, and surgery may be avoided if the diagnosis is recognized.     

Diaphysitis in tumoral calcinosis syndrome

Diaphysitis is uncommon in children. We describe a case of diaphyseal inflammation in several bones with high levels of phosphorus in an 8-year-old boy who later developed subcutaneous masses of tumoral calcinosis. This report serves as a review of this puzzling problem in clinical diagnosis.     

A case of calcinosis universalis successfully treated with low-dose warfarin

A 27-year-old male patient with calcinosis universalis resulting from dermatomyositis was successfully treated with low-dose warfarin. On his trunk and extremities, there were many subcutaneous calcified nodules, and knee flexion was difficult. After oral warfarin therapy for three years, the calcified nodules became smaller, and the knee mobility improved. His serum vitamin K level was abnormally high, decreased just after starting warfarin therapy, and then remained within the normal range. Since vitamin K has been known to play an important role in the Ca2+ binding process in bones or tissues, we suggest that this therapy is effective in reducing subcutaneous calcification through the vitamin K cycle.     

The negative mucosal potential: separating central and peripheral effects of NSAIDs in man

Mixed connective tissue disease (MCTD) was first reported 25 years ago. This report provides an assessment of the course of juvenile (J) MCTD in 224 patients available in the literature until 1996, including our own 33 patients. Most patients improved and remissions were observed in 3-5% (up to 27%). Among the long-term problems, a loss in joint function was seen in up to 29% of the cases, renal involvement in up to 47%, restrictive lung disease in up to 54% and gastrointestinal manifestations consisting of oesophageal dysmotility in up to 29%. Cerebral involvement was rare but severe. Cardiovascular problems observed include cardiomyopathy, myopericarditis and pulmonary hypertension. Among other long-term problems were Raynaud's phenomenon and scleroderma-like skin changes in up to 86% of the patients. Seventeen of the 224 patients had died (7.6%) because of sepsis or infection (7), cerebral complications (3), heart failure (2), pulmonary hypertension (2), renal failure (2) or gastrointestinal bleeding (1). The mortality rate of JMCTD seems to be in the same range as that of juvenile systemic lupus erythematosus, dermatomyositis and scleroderma. When compared with the other connective tissue diseases, however, mainly minor long-term problems are seen in the surviving patients.     

Vascular injury during lumbar disc surgery. Report of two cases; a review of the literature

Iatrogenic vascular injuries are unusual complications of lumbar disc surgery. The incidence of such injuries is very low but probably underestimated because clinical manifestations may be extremely variable depending on the extension of trauma. Diagnosis is suspected when early signs of retroperitoneal haemorrhage appear, but may often be delayed for weeks or years due to formation of a pseudoaneurysm or an arteriovenous fistula which may be of gradual onset and produce initially only a few symptoms. Prompt diagnosis and aggressive treatment can improve the current mortality rate of more than 50%. Two cases are described that illustrate the full spectrum of acute and chronic manifestations of such injuries. One case of acute haemorrhage due to arterial trauma was immediately detected and the other case with arteriovenous fistula was recognized several years post-operatively.     

Seminal vesicle cysts in the patients with adult polycystic kidney disease

Hemifacial spasm features myoclonic-like, paroxysmal, unilateral muscle twitching, attributable to vascular compression at the facial pontine root entry zone. We present the case of an 85-year-old man who presented with idiopathic hemifacial spasm with onset 23 years before. For the last 5 years, he was successfully treated with botulinum toxin injections. However, occasional nitrate intake for precordial pain promptly triggered muscle twitching. Vasodilation may exacerbate not only cases of hemifacial spasm, but even of trigeminal neuralgia, both recognized as neurovascular compressive syndromes.     

Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

Spinocerebellar ataxia type 6 (SCA6) is a newly classified autosomal-dominant cerebellar ataxia (ADCA) associated with CAG repeat expansion. We screened 111 patients with cerebellar ataxia for the SCA6 mutation. Of these, 35 patients were found to have expanded CAG repeats in the SCA6 gene, indicating that second to SCA3, SCA6 is the most common ADCA in Japan. Expanded alleles ranged from 21 to 29 repeats, whereas normal alleles had seven to 17 repeats. There was no change in the CAG repeat length during meiosis. The age at onset was inversely correlated with the repeat length. The main clinical feature of the 35 patients with SCA6 was slowly progressive cerebellar ataxia; multisystem involvement was not common. The 35 patients included nine cases without apparent family history of cerebellar ataxia. The sporadic cases had smaller CAG repeats (21 or 22 repeats) and a later age at onset (64.9 +/- 4.9 years) than the other cases with established family history. We also identified one patient who was homozygous for the SCA6 repeat expansion. The homozygote showed an earlier age of onset and more severe clinical manifestations than her sister, a heterozygote carrying an expanded allele with the same repeat length as the homozygote. This finding suggests that the dosage of the CAG repeat expansion plays an important role in phenotypic expression in SCA6.     

Juvenile amyopathic dermatomyositis

We report a 15-year-old girl with a 10-year-old history of typical skin features of dermatomyositis (DM) without evidence of muscle involvement. Amyopathic dermatomyositis (ADM) is defined by the presence of biopsy confirmed classic cutaneous findings of dermatomyositis in the absence of any clinical or laboratory signs of muscle disease for at least 2 years after onset of skin pathology. To exclude muscle involvement muscle enzymes should be normal; moreover additional use of magnetic resonance imaging and muscle ultrasound is currently being proposed. It is as yet undetermined, whether early aggressive immunosuppressive treatment of ADM might prevent the development of myositis at a later date or influence the course of the skin disease. In a paediatric patient with ADM we advocate a more expectant attitude with careful and regular monitoring for possible development of muscle disease.     

Thrombotic thrombopenic purpura and HIV infection. Apropos of a case

In the past years, more than thirty cases of thrombotic thrombocytopenic purpura (TTP) had been described associated to infection by the human immunodeficiency virus. Some authors have suggested the presence of a causal relationship between both entities, although the common nexus is still unknown. It usually has a fulminant onset, affecting all the risk groups and in any stage of the disease. The clinical manifestations are similar to the classical forms, as well as the evolution and response to treatment. We present a new clinical case, typical in its presentation and its good response to treatment with plasmatic spares associated to PFC and steroid infusion. We believe that the presence of clinical signs suggesting TTP in a patient would necessarily discard the presence of HIV infection and, the other way round, the presence of clinical signs suggesting TTP in a patient with HIV infection would determine the onset of an early and aggressive treatment based on plasmatic spares, given that the prognosis is linked to an early onset of the treatment.     

A case of leukemia cutis

We report a case of leukemia cutis with atypical skin manifestations, presented with generalized various sized dark brownish to erythematous patches with plaques on the whole body of a 42-year-old man. Skin lesions developed 6 months ago and had no signs of itching or tenderness. He complained of sustaining fevers with abdominal discomfort. Laboratory findings showed elevation of leukocyte count and peripheral blood smear revealed 86% of lymphocyte. Histologic examination showed diffuse infiltration of abnormal cells that appeared to be leukemic in nature.     

Leprosy disclosed by polyarthritis

BACKGROUND: We report a case of leprosy observed in a French woman who had lived in Africa 30 years earlier. The clinical presentation was misleading, suggesting connective tissue disease. CASE REPORT: A 69-year-old woman was hospitalized in April 1996 for inflammatory joint disease. The first manifestations had developed three years earlier and the patient had been on systemic corticosteroid therapy associated with anti-malarials since 1993. The clinical presentation progressively included neurological and skin manifestations. Histology examination gave the diagnosis of lepromatous leprosy. Three-drug anti-leprosy treatment in one oral dose was initiated. DISCUSSION: Chronic Mycobacterium leprae infection usually leads to overt leprosy with neurological and cutaneous involvement. Rheumatological forms are less common and found almost exclusively during leprous reactions. The association of inflammatory join pain with neurological and skin manifestations wrongly suggested vasculitis. In addition, the general corticosteroid therapy certainly was implicated in disease activation and progression to a purely lepromatous form.     

A study of the validity of a simulation of third molar eruption based on Markov modelling

Hyalinosis cutis et mucosae (lipoid proteinosis, Urbach-Wiethe disease) is a rare syndrome with autosomal recessive inheritance. The disease is characterized by diffuse deposition of a hyaline-like substance in the dermis, the submucosal connective tissue and various internal organs. The oral mucosa of affected people becomes nodular and thickened, with primary involvement of the labial, buccal and palatal mucosa, posterior tongue, and lingual frenulum. We report the case of a 66-year-old man with hyalinosis cutis et mucosae who presented with gingival hyperplasia due to diffuse deposition of hyaline-like material, and discuss the diagnostic significance of the microscopic findings of the gingival tissues. The present clinical features are also compared to those of the same patient at the age of 38 years.     

Neurological presentation of systemic lupus erythematosus

We describe the case of a 61 years-old-woman with lupus erythematosus who presented with neurological symptoms, namely dementia, focality and crisis. The neurological presentation of lupus is evaluated clinically, being similar to the central manifestations of patients with systemic onset. The marked cognitive affectation with relation to other cases of lupus with a neurological onset is emphasized. MR has been shown to be a sensitive means of detection of corticosubcortical lesions of neurolupus, not specific to this condition, as well as to their response to immunosuppressors. The aetiopathogenesis of some of the manifestations of cerebral lupus and the clinical response to corticosteroids and cyclophosphamide is reviewed.     

Snake and spider antivenin: risks and benefits of therapy

A case of hepatic mesenchymal hamartoma, found after sudden onset clinical and biological cholestasis, is reported in a 18-year-old man. Abdominal ultrasound examination and computed tomography showed a intrahepatic cystic tumor. The diagnosis of hepatic mesenchymal hamartoma was made by the pathological examination of the resected specimen. This rare tumor is found in most cases in children less than 2 years old. Thirteen cases in adulthood were already reported, five of them in Japanese patients. Our case is peculiar because no hepatic tumor was shown by ultrasound examination, 2 years before, the large size of cysts and presence of smooth muscle fibers in the wall.     

Six cases positive for anti-centromere antibodies with ulcer and gangrene in the extremities

We report six cases that were positive for anti-centromere antibodies, with ulcer and gangrene in the extremities but mild or no skin thickening. The patients were five women and one man, and the mean age at onset of gangrene was 56 yr. Raynaud's phenomenon was found in five patients and calcinosis cutis in two patients. Three patients did not satisfy the criteria for systemic sclerosis and CREST syndrome in this study. Ulcer and gangrene occurred in the fingers in three patients, and in the fingers and toes in two patients. The gangrene was refractory to treatment, and amputation of fingers or toes was inevitable in five patients. Regardless of cutaneous lesion, the presence of anti-centromere antibodies may cause the same pathological presentation of vascular damage as seen in systemic sclerosis.     

Muscle pathology in juvenile dermatomyositis

OBJECTIVE: To study muscle biopsies, using histochemistry, on ten children with infantile dermatomyositis. DESIGN: Series of ten patients (of whom eight patients had received treatment and two had not) were submitted to muscle biopsy in order to diagnose possible inflammatory myopathy or to detect recurrences. PLACE OF DEVELOPMENT OF THE STUDY: Public Health Service of S?o Paulo State. PARTICIPANTS: Children with clinical features of inflammatory myopathy. INTERVENTION: Biopsies were performed on the vastus lateralis using local anesthetic. Histochemistry was performed according to standardized methods. RESULTS: Architectural changes of the muscle fibers, necrosis of variable intensity and accentuated evidence of regeneration were observed in patients who had not received treatment (2 cases) and in one case where muscular weakness persisted in spite of corticosteroid therapy. Necrosis and regeneration were minimal or absent in cases treated for one year or more (4 cases). In 3 cases with clinical and laboratorial recurrences, muscle necrosis and architectural changes were detected. CONCLUSIONS: It was concluded that muscle biopsy could aid in diagnosing infantile dermatomyositis as well as in detecting recurrences even in cases without clinical activity of the disease.