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Background: Acne fulminans (AF) is a rare disorder, the most severe form of the entire clinical spectrum of acne. It is characterized by the emergence of painful inflammatory nodules that turn into ulcers, concomitant with systemic manifestations. Here, we report for the first time a Vietnamese boy with Acne fulminans successfully treated with prednisolone and ibuprofen. Case presentation: The patient is a 14-year-old male teenager with moderate acne since the age of 13. After a day of swimming, his acne suddenly became inflamed and painful lesions were present on his face and back. He had high fever and polyarthritis, and tests showed leukocytosis, neutrophilia, and elevated C-reactive protein (CRP). Severe infection was diagnosed and treated by addition of antibacterial therapy for a long period, however, the condition did not improve. When called upon to evaluate the patient, we established the diagnosis of acne fulminans and initiated treatment with prednisone (1mg/kg/day) and ibuprofen (500 mg for two times daily). Following this treatment regimen, there was a rapid improvement. Conclusion: Herein, we have reported a Vietnamese boy with typical AF, but delayed diagnosis and treatment because of a rare condition. Our results support the role and benefit of prednisolone for AF treatment.

Idiopathic nephrotic syndrome (INS) is a major manifestation of chronic idiopathic glomerulonephritis and a common disease in children. The cause and pathogenesis of the disease have not been clarified so far. The treatment is usually a long-term process, from a few months to several years, even decades, including the period of hospitalisation, outpatient treatment period and follow-up period after treatment. The INS patients are negatively affected by the disease and its treatment process. The aim of this study is to assess the health-related quality of life (QOL) of children with INS according to clinical types in Haiphong Children's Hospital. Object: Describe some factors related to the QOL of children with INS. Subjects: 71 patients diagnosed with INS, who are being monitored and treated at Haiphong Children's Hospital from 10/2015 to 05/2016. Methods: Prospective studies, descriptive cross-sectional. QOL of the patients is assessed by the PedsQL 4.0 scale; the higher score shows that the lower QOL. Results: The general QOL score of children with INS (21.24±13.91) was higher than normal children (16.98±10.20). Children with steroid-resistant INS have a higher score (31.62±14.32) than children with steroid-dependent (20.57±9.08) and responsive INS (14.58±6.83). The QOL score of children with one of the symptoms Cushing's face, hirsutism or acne are significantly higher than children without the corresponding symptoms. Children who finished their treatment had a lower score (15.47±7.42) than children being treated (21.33±10.23). The average QOL score has a linear correlation with the duration of INS. Conclusion: The general QOL of children with INS substantially declined compared with that of healthy children. The QOL of children with steroid-dependent and resistant INS is lower than that of the children with steroid-responsive type. The QOL of children with one of the symptoms Cushing's face, hirsutism or acne is significantly lower than that of children without the corresponding symptoms. The QOL of children who completed treatment is higher than the group being treated. The longer the duration of treatment, the more the children's QOL declined.

Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of hereditary diseases. Mutations in the HAX1 gene can cause an autosomal recessive form of SCN-characterized low blood neutrophil count from birth, increased susceptibility to recurrent and life-threatening infections, and preleukemia predisposition. A 7-year-old boy was admitted due to life-threatening infections, mental retardation, and severe neutropenia. He had early-onset bacterial infections, and his serial complete blood count showed persistent severe neutropenia. One older sister and one older brother of the patient died at the age of 6 months and 5 months, respectively, because of severe infection. Bone marrow analysis revealed a maturation arrest at the promyelocyte/myelocyte stage with few mature neutrophils. In direct DNA sequencing analysis, we found a novel homozygous frameshift mutation (c.423_424insG, p.Gly143fs) in the HAX1 gene, confirming the diagnosis of SCN. The patient was successfully treated with granulocyte colony-stimulating factor (G-CSF) and antibiotics. A child with early-onset recurrent infections and neutropenia should be considered to be affected with SCN. Genetic analysis is useful to confirm diagnosis. Timely diagnosis and suitable treatment with G-CSF and antibiotics are important to prevent further complication.

Background DiGeorge syndrome is a congenital malformation characterized by variable defects of the thymus, heart and parathyroid glands. Athymic patients are classified as exhibiting complete DiGeorge syndrome. Some of these patients may also exhibit oligoclonal T-cell expansion, generalized rash and lymphadenopathy at some point after birth. This rare condition is known as atypical complete DiGeorge syndrome, resembles Omenn syndrome, and has not been fully characterized. Methods The clinical and immunophenotypic features of atypical complete DiGeorge syndrome were assessed in two affected Japanese infants. T-cell receptor (TCR) Vβ repertoire was analyzed on flow cytometry and complementarity-determining region 3 spectratyping. Results Both patients had no detectable thymus tissue and profound T-cell lymphopenia soon after birth. Progressive increase of activated T cells, however, as well as eosinophilia, high serum IgE level, generalized rash, and lymphadenopathy were observed during early infancy. A highly restricted TCR Vβ repertoire was demonstrated both in CD4+ and CD8+ T cells. Conclusions The Omenn syndrome-like manifestations might be associated with the oligoclonal proliferation of activated T cells. Analysis of the immunophenotype and TCR Vβ repertoire is helpful to establish the early diagnosis of atypical complete DiGeorge syndrome.

Background Severe congenital neutropenia (SCN) is an immunodeficiency disease characterized low blood neutrophil counts, early bacterial infections, and risk of leukaemia development. Heterozygous mutations in the ELANE gene coding neutrophil elastase are associated with SCN. Patients with SCN suffer from recurrent bacterial infections and often succumb them. To our knowledge, this is the first report of SCN from Vietnam. Case presentation A 6-year-old boy was admitted due to severe bacterial infection and severe neutropenia. He had recurrent infections from 8 months of age, and was misdiagnosed with tuberculosis and and autoimmune neutropenia in infancy at 21 and 41 months of age, respectively. His medical report has showed severe neutropenia for many times. In direct DNA sequencing analysis, we found an ELANE gene mutation (R81P), which had been confirmed to cause SCN. Conclusion The missed and delayed diagnosis may be attributable to insufficient awareness of this rare disease on the background of frequent infections even in the immunocompetent pediatric population in Vietnam. Our results indicate further evidence for the role of ELANE in SCN.

We report on a 9-year-old boy who presented with acute encephalopathy and hemophagocytic lymphohistiocytosis (HLH). The patient was referred to our hospital because of fever, seizures, and decreased consciousness. He showed moderately elevated levels of proinflammatory cytokines in the cerebrospinal fluid and plasma, and clonal expansion of highly activated CD8 + T cells in the peripheral blood. These CD8 + T cells were found to be larger cells that stained positive for T-cell receptor Vβ13.6, and decreased shortly after steroid therapy. Our findings suggest that his acute encephalopathy was likely a clinical manifestation of HLH, and that immunophenotypic analysis may be helpful for early recognition of HLH in such rare encephalopathy. © 2011 The Japanese Society of Child Neurology.

Background X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common form of inherited antibody deficiency. To our knowledge, this is the first report of XLA from Vietnam. Methods We investigated the BTK gene mutations and clinical features of four unrelated Vietnamese children. Results The mean ages at onset and at diagnosis were 2.5 and 8 years, respectively. All patients had a medical history of otitis media, pneumonia, and septicemia at the time of diagnosis. Other infections reported included sinusitis, bronchiectasis, arthritis, skin infections, meningitis, and recurrent diarrhea. We identified one previously reported mutation (c.441G >A) and three novel mutations: two frameshifts (c.1770delG and c.1742 delG), and one nonsense (c.1249A >T). Conclusions The delayed diagnosis may be attributable to insufficient awareness of this rare disease on the background of frequent infections even in the immunocompetent pediatric population in Vietnam. Our results further support the importance of molecular genetic testing in diagnosis of XLA.