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Adult Still's disease is a febrile disorder of unknown etiology, characterized by spiking fever, arthralgia, leukocytosis and a typical rash. However, most of these clinical findings, except for the typical rash, are not specific to this disease: therefore, the typical rash is the most important clinical finding for diagnosing this disease and physicians often have difficulty in making a definite diagnosis without the typical rash. In our department and related institutions, we have encountered 10 patients with Adult Still's disease who fulfilled the preliminary criteria for classification as Adult Still's disease, proposed by the Adult Still's Research Committee in Japan. The three major criteria are fever, arthralgia and typical rash, and 8 of 10 patients had an atypical rash; one satisfied two major criteria, and had an atypical rash and the other satisfied three major criteria and had an atypical rash on her eyelids. Here, we present the two cases of Adult Still's disease with atypical rash. The first patient was a 36-year-old male with an itchy annular erythema chronicum migrans, frequently seen inpatients with Lyme's disease, on his back. His clinical symptoms improved and the erythema disappeared after treatment with corticosteroids. The second patient, a 17-year-old female, had three major findings. In addition to the typical rash on her face, she had a heliotrope rash, usually seen in patients with dermatomyositis, on her eyelids. The typical rash on her face was related to her other clinical manifestations, and improved after treatment with corticosteroids. However, the rash on her eyelids showed no improvement after steroid therapy, suggesting that the erythema was probably not related to Adult Still's disease. Typical rash in Adult Still's disease, defined as a macular or maculopapular nonpruritic salmon pink eruption, was demonstrated to have the highest relative value associated with relatively high sensitivity and specificity for the diagnosis of Adult Still's disease. However, we have to be aware that some patients with Adult Still's disease could also have an atypical rash.

We experienced three patients who have collagen diseases with respiratory failure accompanied by hyponatremia. They were one systemic lupus erythematosus patient with interstitial pneumonia, one rheumatoid arthritis patient with acute pneumonitis, and one dermatomyositis patient with pulmonary fibrosis and organizing pneumonia. In all 3 patients, hyponatremia appeared along with a decrease in arterial O2 partial pressure (PaO2) and the hyponatremia tended to improve when the PaO2 increased after inhalation of oxygen, even though their respiratory failure were not improved. In dermatomyositis patient, serum Na levels were over-corrected after increase in PaO2. The serum and urine osmolality, serum antidiuretic hormone (ADH) levels and clinical pictures demonstrated a presence of inappropriate secretion of ADH (SIADH) in all 3 cases when hyponatremia and hypoxia appeared. A close association between hyponatremia and hypoxia observed in 3 patients strongly suggested that their SIADH were associated with hypoxia since SIADH could be demonstrated by hypoxia. Therefore, it is important to realize that hypoxia-induced hyponatremia will be promptly corrected to hypernatremia by an oxygen inhalation, which could cause a lethal central pontine myelinolysis.

We report on a case of C9 deficiency followed by the onset of systemic lupus erythematosus (SLE). A 51-year-old female patient had suffered from repeated urinary tract infections since 1977. In 1980, at 41 years of age, she had proteinuria and facial erythema along with low level of CH50 less than 12.0 U/ml. She was diagnosed as C9 deficiency (C9D) because of C9 protein less than 0.5 mg/dl, C9 activity 0.03% and C8 activity 94% and also SLE was strongly suspicious. Subsequently, she suffered from repeated urinary tract infections. In 1990, she was diagnosed as SLE because of pleuritis, pericarditis and positive anti-nuclear (1:640) and positive anti-DNA antibody (28.0 U/ml) in addition to proteinuria and facial erythema. From the family study, her two sisters showed homozygous C9D (less than 0.5 mg/dl) with hypergammaglobulinemia (2290 and 2230 mg/dl, respectively) and positive anti-nuclear antibody (1:80) in both. Her father also showed heteropygous C9D (1.7 mg/dl) with anti-nuclear antibody (1:640). These results suggest that healthy carriers of C9D may have some abnormalities in humoral or cell-mediated immunity. The possibility was thought that other unrecognized disease associated loci exist in linkage with the C9 allele like that of C4D was speculated. And repeated infections due to C9D may possibly induce B cell activation followed by the occurrence of SLE or related disorders. This case seems to be very valuable with respect to the onset of SLE under a long-term observation of C9D.

A 78-year-old male patient suffered from slight dryness of his mouth and eyes, which was followed by swelling of the parotid and submandibular glands on both sides. Subsequently, he developed generalized lymphadenopathy accompanied by hypergammaglobulinemia IgG 7740 mg/dl, main subclass: IgG4, 5800 mg/dl. Histopathological examination of lymph nodes from his left neck showed follicular proliferation of plasma cells containing cytoplasmic kappa and lambda chains of IgG4, without destruction of the lymph node structure. His serum showed very low levels of complement: 0 U/ml of CH 50, 14 mg/ml of C3 and less than 11 mg/ml of C4. During treatment with prednisolone at 30 mg/day, the swelling of the salivary glands and lymph nodes reduced the IgG and IgG4 decreased and the complement increased. Finally, all lymph nodes, IgG and complement abnormalities were normalized. Anticomplementariness of IgG4 was demonstrated in this patient.

A 57-year-old man was admitted to our clinic with complaints of proximal myalgia in extremities. He was diagnosed as late-onset SLE based on the findings of pleuritis, pericarditis, arthritis and antibodies to DNA and cardiolipin. Aggregation of the platelets and the decreased counts of platelets were observed when EDTA was used as anticoagulant for the blood tests. However, the platelet aggregation was not noted with normal counts of platelets when Heparin-Theophylline was used as anticoagulant. From this observation, EDTA-dependent pseudothrombocytopenia was diagnosed and IgM class of EDTA-dependent anti-platelet antibody was detected by means of flow cytometry. Administration of prednisolone at 40mg/day reduced the symptoms and EDTA-dependent pseudothrombocytopenia, and EDTA-dependent anti-platelet antibody disappeared. His clinical course suggested that EDTA-dependent pseudothrombocytopenia was closely associated with the disease activity of SLE.

Based on analysis of data obtained from multicenter patients with collagen diseases (83 with pulmonary hypertension(PH) and 472 without PH), preliminary criteria for the diagnosis of PH in mixed connective tissue disease (MCTD) were proposed by the Research Committee for MCTD of the Ministry of Health and Welfare of Japan. The diagnosis of PH requires four or more out of six clinical and laboratory findings, including exertional dyspnea, systolic pulsation on the left sternum, increased 2nd pulmonary sound, dilatation of the pulmonary artery on chest X-ray, right ventricular hypertrophy on the electrocardiogram, and right ventricular enlargement on the echocardiogram. Alternatively, either an increase of mean pulmonary artery pressure over 25 mmHg measured by right ventricle catheterization, or the corresponding finding on Doppler echocardiography is also valid for the diagnosis of PH. When these criteria were applied to the patients in this study, the sensitivity was 92% and the specificity 100%, showing that PH may be adequately diagnosed using non-invasive methods. The number of criteria satisfied by patients with PH was well correlated with their mean pulmonary artery pressure measured by heart catheterization.

A 63-year-old man with a history of Pustulosis Palmaris et Plantaris since 1960 was suffered from lumbago and anterior chest pain in 1973. Chest X-ray film showed inter-sterno-costo-clavicular ossification. Spondylodiscitis, Syndesmophyte of lumbal spine, Sacro-iliitis were seen by abdominal X-ray film. He was admitted to near hospital with generalized edema and urinary protein (10-20 g/day) in April 1986. Laboratory studies showed hypoproteinemia, positive C-reactive protein, high serum amyloid A protein(240 ng/100 microliters) and negative HL-A B27. He was diagnosed Pustulotic arthro-osteitis and Secondary Amyloidosis by renal biopsy and rectal biopsy in 1987. He was treated with high-dose oral prednisolone(60 mg/day)and dimethyl sulfoxide. After treatment, Edema and Nephrose improved. Increasement of renal function was not observed.

A 37-year-old man suffered from photosensitivity and urinary casts with serological findings of positive anti-DNA antibody, LE cells and false positive VD reaction in September of 1979. He developed general fatigue, dyspnea and diplopia with ptosis of bilateral eyelids in November of 1979, which were improved by the anti-cholinesterase drugs. In January of 1980, he had an attack of unconsciousness and his chest X-ray film showed several tumorous shadows in the anterior mediastinum and middle and lower lung fields. Treating him with chemotherapy of VEMP, the pulmonary shadows disappeared. However, he developed severe muscle weakness with an elevated CPK (430 mU/ml) and a myogenic EMG pattern along with an increased anti-acetylcholine receptor antibody (243 n Mol/l), dysphagia and eyelid-ptosis. He died in September of 1985 and his autopsy disclosed a malignant thymoma of mixed type in the anterior mediastinum and an atrophy and fibrosis with infiltration of inflammatory cells in the striated muscles.