OBJECTIVE: To evaluate the clinical features, laboratory and imaging results, treatment and outcomes of eosinophilic fasciitis (EF) and assess the value of ultrasound in the diagnosis of EF. METHODS: We retrospectively analyzed the clinical data of 45 patients with EF treated in our center from January 1, 2006 to February 28, 2022. The consistency between the diagnoses of EF based on ultrasound and MRI findings was assessed. RESULTS: In the 45 EF patients (male/female ratio 3.5:1), the age of onset ranged from 16 to 64 years with a mean disease course of 22.6 months. The average time from symptom onset to diagnosis was 16 months. The most common possible trigger of the disease was vigorous exercise (10/45), causing symmetrical lesions in the limbs, most commonly in the forearms (86.7%) and lower legs (80%). Clinical features of EF included subcutaneous swelling and induration (95.6%), arthralgia and arthritis (55.6%), groove sign (42.2%), hand joint contractures (42.2%), skin pigmentation (37.8%), and peau d'orange appearance (13.3%). Eosinophilia was found in 31 patients (68.9%). Hypergammaglobulinemia was seen in 23/44 (52.3%) and positive antinuclear antibodies in 9 (20%) of the patients. Twentyone of the patients were treated with high-dose methylprednisolone (≥200 mg daily for 3 to 5 consecutive days), and compared with the patients who did not receive this treatment, these patients more frequently experienced relapse before admission, had more extensive involvement, and had a higher rate of hypergammaglobulinemia without fever, but these differences were not statistically significant. Of the 31 patients (68.9%) with follow-up data (for a median of 3.2 years [range 0.2-15.9]), complete remission was achieved in 12 (38.7%) patients, and the accumulative complete remission rate was 44.1% at 5.5 years. No specific baseline characteristics or immunosuppressants were found to correlate with the treatment response. A total of 26 patients underwent both ultrasound and MRI examination, and the Kappa value of the diagnostic results between ultrasound and MRI was 0.91. CONCLUSION EF is characterized by symmetrical subcutaneous swelling and induration in the limbs, accompanied by eosinophilia and hypergammaglobulinemia. Glucocorticoid is effective for treating EF. Ultrasound examination can identify thickening of subcutaneous fascia for an early diagnosis of EF.
Humans ; Female ; Male ; Infant ; Child, Preschool ; Retrospective Studies ; Hypergammaglobulinemia ; Eosinophilia ; Ultrasonography ; Hand ; Contracture ; Treatment Outcome

Since primary Sjögren's syndrome (pSS) is an autoummune disease of B cell hyperactivity and pathologic autoantibody response, follicular helper T (Tfh) cells and follicular regulatory T (Tfr) cells are suggested to be key players in pSS. We examined subsets of Tfh and Tfr cells from the blood in pSS patients, and whether these subsets represent disease activity, glandular inflammation, or autoantibody responses in pSS. Circulating Tfh and Tfr cells, along with their specific subsets, were identified from the peripheral blood of 18 pSS patients and 14 age- and sex-matched healthy controls (HCs) using flow cytometry analysis. Blood Tfr and Tfh cell ratios were increased in pSS patients compared with HCs. The CCR7(lo)PD-1(hi) subset of circulating Tfh cells was increased in pSS patients with high degree of focal lymphocytic sialadenitis; whereas circulating Tfh cells did not differ between pSS patients and HCs. The frequency of CCR7(lo)PD-1(hi) Tfh cells was significantly correlated with disease activity scores and differentiated B cells. PD-1 expression on blood Tfh and Tfr cells showed positive correlations with IL-21 in pSS. Increasing trend of blood Tfr cells was observed in pSS patients, and blood Tfr cells (particularly Th1 and Th17 subsets) represented hypergammaglobulinemia in pSS. In summary, circulating CCR7(lo)PD-1(hi) Tfh cells indicated disease activity and glandular inflammation in pSS. Circulating Tfr cells, shifted toward Th1 and Th17 subsets, indicated ongoing IgG production in pSS. Subsets of circulating Tfh or Tfr cells could be biomarkers for disease monitoring and patient stratification in pSS.
Autoantibodies ; B-Lymphocytes ; Biomarkers ; Flow Cytometry ; Humans ; Hypergammaglobulinemia ; Immunoglobulin G ; Inflammation ; Sialadenitis ; T-Lymphocyte Subsets ; T-Lymphocytes ; T-Lymphocytes, Helper-Inducer ; T-Lymphocytes, Regulatory

Cutaneous and systemic plasmacytosis (CSP) is a rare disorder of unknown etiology characterized by cutaneous polyclonal plasma cell infiltrates associated with various extracutaneous involvement and polyclonal hypergammaglobulinemia. Here, we report on a 54-year-old male patient with chronic renal insufficiency who presented with disseminated reddish-brown macules and plaques on the face and trunk. In our evaluation, he was found to have lymphadenopathy, polyclonal hypergammaglobulinemia; benign plasma cell infiltration involving the skin, bone marrow, and retroperitoneal area; and renal amyloidosis. To the best of our knowledge, this is the first reported case of CSP associated with renal amyloidosis.
Amyloidosis* ; Bone Marrow ; Humans ; Hypergammaglobulinemia ; Lymphatic Diseases ; Male ; Middle Aged ; Plasma Cells ; Renal Insufficiency, Chronic ; Skin

A 7-year-old, spayed female, domestic short hair cat showed signs of a 2-week history of chronic anorexia, depression, and severe weight loss. Upon physical examination, pyrexia, mild gingivitis, and pale mucus membranes were noted. Laboratory analysis revealed normocytic normochromic non-regenerative anemia, severe thrombocytopenia, and hypergammaglobulinemia. Serum protein electrophoresis revealed the presence of elevated alpha-2 fraction within the globulin concentration. Based on history, clinical signs, and laboratory results, systemic viral infection was strongly suspected. Reverse transcriptase polymerase chain reaction identified the presence of feline immunodeficiency virus (FIV) in the serum. Furthermore, gene sequencing revealed the virus as FIV subtype A. Treatment with anti-retroviral agents, including azidothymidine (AZT) and recombinant human interferon-alpha, was continued for 4 weeks. However, the patient's clinical condition deteriorated, resulting in death 1 month after initiation of treatment due to progressive renal failure. Necropsy and histopathology revealed hepatic and renal necrosis with hyper-cellular bone marrow mainly comprised of myeloid precursor cells. This case report is the first to describe phylogenetic subtyping, anti-retroviral combination treatment, and clinical outcomes in an FIV-infected cat in Korea. In addition, this report suggests that treatment should be initiated during the early phase of infection that could be effective for the virus.
Anemia ; Animals ; Anorexia ; Anti-Retroviral Agents ; Bone Marrow ; Cats* ; Child ; Depression ; Electrophoresis ; Female ; Fever ; Gingivitis ; Hair ; Humans ; Hypergammaglobulinemia ; Immunodeficiency Virus, Feline* ; Interferon-alpha* ; Korea ; Membranes ; Mucus ; Necrosis ; Physical Examination ; Renal Insufficiency ; Reverse Transcriptase Polymerase Chain Reaction ; Thrombocytopenia ; Weight Loss ; Zidovudine*

Chronic granulomatous disease (CGD) is a rare immunodeficiency disease, which is characterized by the lack of a functional nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. The disease presents leukocytosis, anemia, hypergammaglobulinemia, and granuloma formation of the skin, lung, or lymph nodes. The mutation of the CYBB gene encoding gp91phox, located on chromosome Xp21.1 is one of the causes of CGD. We report a patient with X-linked CGD who carried a novel mutation, a c.1133A>G (paAsp378Gly) missense mutation, in the CYBB gene.
Anemia ; Granuloma ; Granulomatous Disease, Chronic* ; Humans ; Hypergammaglobulinemia ; Leukocytosis ; Lung ; Lymph Nodes ; Mutation, Missense ; NADP ; Oxidoreductases ; Phagocytes ; Skin

Chronic granulomatous disease (CGD) is a rare immunodeficiency disease, which is characterized by the lack of a functional nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. The disease presents leukocytosis, anemia, hypergammaglobulinemia, and granuloma formation of the skin, lung, or lymph nodes. The mutation of the CYBB gene encoding gp91phox, located on chromosome Xp21.1 is one of the causes of CGD. We report a patient with X-linked CGD who carried a novel mutation, a c.1133A>G (paAsp378Gly) missense mutation, in the CYBB gene.
Anemia ; Granuloma ; Granulomatous Disease, Chronic* ; Humans ; Hypergammaglobulinemia ; Leukocytosis ; Lung ; Lymph Nodes ; Mutation, Missense ; NADP ; Oxidoreductases ; Phagocytes ; Skin

Rosai-Dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy (SMHL) is a benign histiocytic proliferative disorder of unknown etiology. The disease is usually accompanied by massive bilateral lymphadenopathy, fever, elevated erythrocyte sedimentation rate, leukocytosis with neutrophilia, and polyclonal hypergammaglobulinemia. Histopathologic examinations showed characteristically large histiocytes exhibiting emperipolesis. On immunohistochemical stains, histiocytes are positive for CD68 and S-100 protein, but negative for CD1a. The lymph node involvement is typical, but it may also involve other systemic organs in one third of the cases such as skin, upper respiratory tract, bones and so on. Patients with purely cutaneous Rosai-Dorfman diseases are of older age at onset of the disease with a reversed male/female ratio, thus, cutaneous Rosai-Dorfman disease is recognized as a distinct entity from the Rosai-Dorfman disease. Herein, we present a 50-year-old man with erythematous papules and indurated plaques on both cheeks, diagnosed as cutaneous Rosai-Dorfman disease. The lesions were treated with isotretinoin 10 mg bid for 9 months with pulsed dye laser.
Blood Sedimentation ; Cheek ; Coloring Agents ; Emperipolesis ; Fever ; Histiocytes ; Histiocytosis, Sinus ; Humans ; Hypergammaglobulinemia ; Isotretinoin ; Lasers, Dye ; Leukocytosis ; Lymph Nodes ; Lymphatic Diseases ; Respiratory System ; S100 Proteins ; Skin

OBJECTIVETo investigate the clinical and laboratory characteristics of tumor like Sjögren's syndrome (TLSS) patients and non-tumor like Sjögren's syndrome (NTLSS) and the incidence of lymphoma in patients of Sjögren's syndrome (SS).

METHODSA retrospective analysis was carried out in 199 primary SS (including TLSS) patients who were recruited in Peking University School and Hospital of Stomatology from 1998 to 2010. Clinical and laboratory information were collected. The patients were divided into two groups: TLSS (n = 25) and NTLSS (n = 174). Clinical and laboratory characteristics were compared between these two groups by a statistical analysis.

RESULTSOf the 25 TLSS patients, 23 had enlargements of parotid glands and 2 had enlargements of submandibular glands. There were significant differences of salivary scintigraphy appearance (P = 0.018), hypergammaglobulinemia (P = 0.014), rheumatoid factor positive rate (P = 0.001), formation of the ectopic germinal centers (P = 0.014), double positive rate of anti-SSA antibody and anti-SSB antibody (P < 0.001) between the TLSS and NTLSS patients. Among the 25 TLSS patients, 3 developed lymphomas, accounting for 1.5% (3/199) of the total 199 patients and 12% (3/25) of the TLSS patients. Lymphoma subtypes included one diffused large B-cell lymphoma and two mucosa-associated lymphoid tissue lymphoma. There was no lymphoma detected in NTLSS patients.

CONCLUSIONSThere are clinical and laboratory differences between TLSS and NTLSS patients, with a more tendency to develop lymphomas in TLSS patients.

Adult ; Antibodies, Antinuclear ; metabolism ; Female ; Humans ; Hypergammaglobulinemia ; metabolism ; Lymphoma, B-Cell, Marginal Zone ; diagnostic imaging ; etiology ; metabolism ; pathology ; Lymphoma, Large B-Cell, Diffuse ; diagnostic imaging ; etiology ; metabolism ; pathology ; Male ; Middle Aged ; Parotid Gland ; pathology ; Radionuclide Imaging ; Retrospective Studies ; Rheumatoid Factor ; metabolism ; Salivary Glands ; diagnostic imaging ; Sjogren's Syndrome ; complications ; diagnostic imaging ; metabolism ; pathology ; Submandibular Gland ; pathology

Autoimmune hepatitis (AIH), primary sclerosing cholangitis (PSC), and primary biliary cirrhosis (PBC) are the major immune-mediated chronic liver diseases. They are characterized by circulating autoantibodies, hypergammaglobulinemia, unique clinical features, and associations with other autoimmune diseases, such as inflammatory bowel disease and autoimmune thyroiditis. Primary biliary cirrhosis is known to be associated with inflammatory bowel disease, such as ulcerative colitis. On the other hand, autoimmune hepatitis is rarely associated with ulcerative colitis. Here, we report a case diagnosed as autoimmune hepatitis combined with ulcerative colitis on the basis of histological and endoscopic findings.
Autoantibodies ; Autoimmune Diseases ; Cholangitis, Sclerosing ; Colitis, Ulcerative ; Hand ; Hepatitis, Autoimmune ; Hypergammaglobulinemia ; Inflammatory Bowel Diseases ; Liver Cirrhosis, Biliary ; Liver Diseases ; Thyroiditis, Autoimmune ; Ulcer

Castleman's disease (CD) is an uncommon B-cell lymphoproliferative disorder characterized by lymph node hyperplasia with vascular proliferation. Cutaneous involvement in CD is rare. A 65-year-old man presented with a 7-year history of gradually developing multiple reddish to violaceous indurated plaques on the scalp, trunk, and legs. On physical examination, there were palpable enlarged cervical, axillary, and inguinal lymph nodes. Laboratory examination revealed anemia, thrombocytosis, hyperproteinemia, hypoalbuminemia, and polyclonal hypergammaglobulinemia. An inguinal lymph node biopsy and a skin biopsy were performed and the patient was diagnosed with the plasma cell type of CD. Chemotherapy was started and the lesions have responded to treatment.
Aged ; Anemia ; B-Lymphocytes ; Biopsy ; Giant Lymph Node Hyperplasia ; Humans ; Hypergammaglobulinemia ; Hyperplasia ; Hypoalbuminemia ; Leg ; Lymph Nodes ; Lymphoproliferative Disorders ; Physical Examination ; Plasma Cells ; Scalp ; Skin ; Thrombocytosis