The patient was a 7 months old Korean girl, who was admitted to Department of Ophthalmology of the Seoul National University Hospital, with 6 months history of the left eyelid swelling and exophthalmos. Visual acuity and ocular movement were unaffected. Orbit CT revealed 1.5x.5 cm sized well circumscribed intraconal mass in the left retrobulbar space with pressure erosion of adjacent bone. At surgery, the mass was pinkish gray and firm, and was adherent to adjacent tissue. The whole mass could not be removed, and a local excision was done.

Ingrowing nail is that the soft tissue of the side of the nail is penetrated by the edge of the nail plate, resulting in pain, inflammation, the formation of granulation tissue. This disease is common in adolescence and adult, but rare in infant. So far, there has not been reported ingrowing nail associated with onychomycosis mycologically confirmed. We report a case of congenital hypertrophic lip of hallux, a subtype of infantile ingrowing nail, in a 6 month-old-male, associated with onychomycosis due to Candida parapsilosis.
Adolescent ; Adult ; Candida ; Granulation Tissue ; Hallux ; Humans ; Infant ; Inflammation ; Lip ; Onychomycosis*

Severe congenital neutropenia is a rare hematological disease characterized by a selective decrease in circulating neutrophils, maturation arrest of granulocytic precursors at the promyelocyte stage, and recurrence of infections. A 2-month-old male infant (patient A) and a 14-month-old female child (patient B) were referred to our hospital due to severe neutropenia. Sequencing analysis of ELA2 and HAX1 genes was performed. Two single nucleotide polymorphisms of HAX1 gene were found. They were 5,104T-->G point mutation of exon 1 and 5,474A-->G point mutation of intron 1 in HAX1 gene. The mutation of ELA2 gene was not found. The patient A showed a good response to granulocyte colony-stimulating factor (G-CSF) treatment and the absolute neutrophil count recovered to 1,195/microliter. But the patient B showed a partial response to G-CSF treatment and experienced several episodes of herpetic gingivostomatitis, oral ulcer, acute pharyngotonsillitis and otitis media during follow-up.
Adaptor Proteins, Signal Transducing/genetics ; Bone Marrow/pathology ; Female ; Granulocyte Colony Stimulating Factor, Recombinant/adverse effects/therapeutic use ; Humans ; Infant ; Male ; Neutropenia/congenital/drug therapy/*genetics ; Neutrophils/cytology/pathology ; Oral Ulcer/etiology ; Otitis Media/etiology ; Polymorphism, Single Nucleotide ; Serine Endopeptidases/genetics ; Stomatitis, Herpetic/etiology

A 32-yr-old male diagnosed with myelodysplastic syndrome underwent an unmanipulated, unrelated, HLA matched, peripheral blood stem cell transplantation. The patient and donor were both blood type O, CcDEe. Twelve weeks post-transplantation, he developed acute autoimmune hemolytic anemia (AIHA). He was transfused multiple times with washed O red cells. High-dose steroid therapy was initiated and he underwent splenectomy; however, AIHA was refractory to therapy. The patient was further treated with combined treatment modalities including immunosuppressive therapy with mycophenolate mofetil and cyclosporine and three cycles of plasma exchange, and AIHA responded to treatment. This is the third case of AIHA complicating hematopoietic stem cell transplantation reported in Korea. Since AIHA is relatively common after hematopoietic stem cell transplantation, accurate and timely diagnosis of the disease and treatment strategies with multiple modalities are necessary.
Adult ; Anemia, Hemolytic, Autoimmune/*diagnosis/drug therapy/etiology ; Combined Modality Therapy ; Cyclosporine/therapeutic use ; Hematopoietic Stem Cell Transplantation/*adverse effects ; Humans ; Male ; Mycophenolic Acid/analogs & derivatives/therapeutic use ; Myelodysplastic Syndromes/complications/diagnosis/therapy ; Plasma Exchange

Capnocytophaga spp. are thin, spindle-shaped, gram-negative bacilli, similar to fusobacteria. We isolated Capnocytophaga from the blood of three patients with fever: two acute myelogenous leukemia patients and one chronic osteomyelitis patient. The patients showed mild course of disease without hypotension or the change of mental status. As Capnocytophaga spp. are slow growing bacteria, there were difficulties in the isolation and susceptibility test of bacteria. More concerns should be given to the uncommonly isolated bacteria such as Capnocytophaga.
Bacteremia* ; Bacteria ; Capnocytophaga* ; Fever ; Fusobacteria ; Humans ; Hypotension ; Leukemia, Myeloid, Acute ; Osteomyelitis

Serratia marcescens is the most important member of the genus Serratia and causes opportunistic infections, particularly pneumonia and septicemia in patients with malignancy, renal failure (acute and chronic), and diabetes mellitus. The most common portals of entry are known to be, in descending order, lung, genitourinary tract, intravenous line, gastrointestinal tract, and skin. S. marcescens rarely causes skin infection because it does not normally colonize human skin. Only six cases of S. marcescens cellulitis were reported. Five of them were immunocompromised patients. We have experienced a case of skin abscess caused by S. marcescens, which was found in a 59-year-old woman. She was undergoing prior antibiotic treatment after insulinoma surgery. S. marcescens was isolated from the skin abscess as a sole organism. She was treated with appropriate antibiotics that exhibited sensitivities for the organism and cured without any complication. The authors report a case of S. marcescens infection on the skin of a 59-year-old woman and review the literature concerning this organism as a causative agent.
Abscess* ; Anti-Bacterial Agents ; Cellulitis ; Colon ; Diabetes Mellitus ; Female ; Gastrointestinal Tract ; Humans ; Immunocompromised Host ; Insulinoma ; Lung ; Middle Aged ; Opportunistic Infections ; Pneumonia ; Renal Insufficiency ; Sepsis ; Serratia marcescens* ; Serratia* ; Skin*

BACKGROUND: Real-time PCR for quantification of JAK2 V617F has recently been introduced and used to evaluate the importance of mutant allele burden in both diagnosis and disease progression in myeloproliferative diseases (MPDs). We evaluated the usefulness of JAK2 MutaScreen(TM) kit that uses a real-time semiquantitative PCR method and has been designed to screen JAK2 V617F mutant allele burden. METHODS: Forty MPD patients were included in this study. We screened JAK2 V617F and determined the mutant allele burden using JAK2 MutaScreen(TM) kit. The mutant allele burden was estimated by six-scaled standards of JAK2 V617F mutant allele (2%, 5%, 12.5%, 31%, 50%, and 78%). For evaluation of test performance, an allele-specific PCR (AS-PCR) was carried out in all samples by using Seeplex JAK2 Genotyping kit. We assessed the clinical differences in distinct disease entities of MPDs according to JAK2 V617F mutant allele burden. RESULTS: JAK2 V617F mutation was detected in 30 cases, including 10 of 11 cases (91%) of polycythemia vera (PV), 13 of 20 cases (65%) of essential thrombocythemia (ET), and 2 of 3 cases (67%) of chronic idiopathic myelofibrosis (CIMF). The concordance rate between the two tests was 95% (38/40). JAK2 V617F mutant allele burden was greater than 50% in 17 cases, and 10 of them (59%) were PV. In contrast, mutant allele burden was less than 50% in 13 cases and 11 of them (85%) were ET. CONCLUSIONS: JAK2 MutaScreen(TM) kit that utilizes a real-time semi-quantitative PCR method is a useful tool for diagnosing MPDs precisely. It can be used to assess the grade of mutant allele burden as well as to screen JAK2 V617F simultaneously.
Adult ; Aged ; *Alleles ; Amino Acid Substitution ; DNA Mutational Analysis ; Disease Progression ; Female ; Humans ; Janus Kinase 2/*genetics ; Male ; Middle Aged ; Mutation ; Myeloproliferative Disorders/*diagnosis/genetics ; Polymerase Chain Reaction/*methods ; Reagent Kits, Diagnostic

BACKGROUND: It has been known that the increase of reticulated platelets indicates the increase of thrombopoiesis in platelet consumptive diseases or the impending platelet recovery in patients with thrombocytopenic conditions. A new rapid automated method to assess reticulated platelets, the immature platelet fraction (IPF), was recently introduced. We evaluated the usefulness of the IPF for the prediction of platelet recovery in patients after hematopoietic stem cell transplantation (HSCT) and cytotoxic chemotherapy. METHODS: Thirty one healthy volunteers and 59 patients formed 3 groups: the allogenic HSCT group (n=23, an ABO major-mismatch 6 of 23), the autologous HSCT group (n=8) and the cytotoxic chemotherapy group (n=28). The platelet count, % of IPF and the % of reticulocytes were checked every day by using a Sysmex XE-2100. RESULTS: The IPF in the healthy volunteers was a mean of 2.2+/-1.6% (range: 0.3~6.7%), and the maximum level of the IPF in the patient group was 6.1+/-1.7% (range: 3.3~13.5%). The ideal cut-off value of the IPF increase to discriminate the platelet recovery group was 5.1%. When this cut-off value is used, the positive predictive value is 90.9% in the HSCT groups and 87.5% for the total patients. The 4 patients who showed an IPF higher than 5.1% without platelet recovery were in platelet consumptive conditions. It took 8.0+/-8.3 days to show platelet recovery after elevation of the IPF over 5.1% and an ABO major mismatch HSCT doesnt affect platelet recovery. CONCLUSION: The IPF is thought to be a useful parameter for the prediction of platelet recovery after HSCT and cytotoxic chemotherapy, but the problem of the patient' conditions affects the accuracy of the IPF, and the variable intervals between the increase of the IPF and platelet recovery is thought to be improved.
Blood Platelets* ; Drug Therapy ; Healthy Volunteers ; Hematopoietic Stem Cell Transplantation ; Humans ; Platelet Count ; Platelet Transfusion* ; Reticulocytes ; Thrombopoiesis

We reviewed our leukemia database to reclassify 610 patients previously diagnosed as having acute myeloid leukemia (AML) according to the updated 2016 WHO classification. Nine patients were categorized as having myelodysplastic syndrome and myeloid neoplasms with germline predisposition. AML with recurrent genetic abnormalities accounted for 57.4% (345/601) of the patients under the 2016 WHO classification. AML with mutated NPM1 was the most common form (16.5%), with the majority associated with monocytic differentiation (63.6%). AML with double CEBPA mutations accounted for 8.3% of these cases, and the majority were previously diagnosed as AML with/without maturation (78.0%). These newly classified mutations were mutually exclusive without overlapping with other forms of AML with recurrent genetic abnormalities. AML with mutated NPM1 and AML with myelodysplasia-related changes comprised the oldest patients, whereas AML with RUNX1-RUNX1T1 included the youngest patients. The leukocyte count was highest in AML with mutated NPM1, and the percentage of peripheral blood blasts was the highest in AML with double CEBPA mutations. Our results indicate that implementation of the 2016 WHO classification of AML would not pose major difficulties in clinical practice. Hematopathologists should review and prepare genetic tests for the new classification, according to their clinical laboratory conditions.
Classification ; Humans ; Leukemia ; Leukemia, Myeloid, Acute ; Leukocyte Count ; Myelodysplastic Syndromes

We report a case of autoimmune hemolytic anemia caused by anti-D and anti-C in an RhD positive patient with Epstein-Barr Virus (EBV) infection. The patient achieved complete response by transfusion, treatment with a cytotoxic drug and plasmapheresis. A 66-year-old male patient visited the local hospital for exertional dyspnea. Incompatible crossmatching resulted in the transfer of the patient to our institution for transfusion. Anti-D, C were identified as the autoantibodies causing hemolytic anemia by the use of a direct antiglobulin test, antibody screening test, adsorption and elusion test, and antibody titration in the serum and eluate. The auto IgG warm antibodies were thought to be associated with the EBV infection. This case demonstrates the importance of performing antibody screening and an identification test for transfusion. Transfusion in autoimmune hemolytic anemia is complicated by the presence of pan reactive IgG autoantibodies. However, in this case,the autoantibody was specific for a defined blood group, RhD and RhC antigens,and serocompatible blood was administered without difficulty. Not only transfusion, but also treatment with steroids, a cytotoxic drug and plasmapheresis were critical in the treatment of autoimmune hemolytic anemia.
Adsorption ; Aged ; Anemia, Hemolytic ; Anemia, Hemolytic, Autoimmune* ; Antibodies ; Autoantibodies ; Coombs Test ; Dyspnea ; Epstein-Barr Virus Infections ; Herpesvirus 4, Human ; Humans ; Immunoglobulin G ; Male ; Mass Screening ; Plasmapheresis ; Steroids