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Background: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). PC is an extremely rare condition. To our knowledge, this is the largest genotype–phenotype study of PC in a Vietnamese population to date. Materials and methods: We investigated keratin gene mutations and clinical features of seven Vietnamese children with PC. Results: The seven Vietnamese patients were from six different families (two patients in the same family) from across Northern, Central, and Southern Vietnam. All children displayed PC symptoms before 1 year of age, but diagnosis was delayed in 4/7 patients. Thick fingernails, thick toenails, oral leukokeratosis, and follicular hyperkeratosis were the most common features recorded by all seven patients. Plantar keratoderma and thick fingernails were the clinical features associated with the most significant effect on daily function. All patients had mutations in KRT6A (PC–K6a) focused on the 1A and 2B domains. We found three distinct types of mutations (K6a R466P, K6a N171K, and K6a N172del). One mutation (N172del) was common to 5/7 (71.4%) of the patients. Conclusions: Individuals displaying nail dystrophy, oral leukokeratosis, follicular hyperkeratosis, and plantar keratoderma should be referred for genetic testing given the high likelihood of a PC-K6a-related mutation in patients with this constellation of clinical signs.

Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome and Stevens-Johnson Syndrome (SJS) are severe cutaneous adverse reactions to drugs. Those reactions which are rare in children can be especially severe and challenging to diagnose and manage. Herein we present a 59-month-old male who presented with a rash, fever, and multiple organ dysfunction initiation of Phenobarbital for epilepsy. Diagnosis of ovelaping SJS and DRESS syndrome had been made based on clinical manifestations accompanied with skin biopsy according to RegisSCAR diagnostic criteria. A therapy with intravenous immune globulin (IVIG), corticosteroids and supportive care was given successfully for the patient. This case underscored the significance of promptly and effectively recognizing and managing these intricate reactions.

The congenital immune system includes neutrophils, which perform a variety of functions. Congenital and acquired neutropenia are rare illnesses with an underestimated prevalence in children. The aim of this study is to examine the epidemiology and etiology of febrile neutropenia in children at Haiphong Children’s Hospital, Haiphong, Vietnam. Methods: A cross-sectional study was carried out on 421 febrile neutropenia children. Clinical and laboratory characteristics were examined. Results: The median age (IQR) was 25.0 (12.5–59.5) months. The male-to-female ratio was 1.35/1. There were twice as many children living in the suburbs (66.98%) as in urban areas (33.02%). The mean (SD) temperature at admission was 38.50 ± 0.59 °C. Diagnosed causes associated with neutropenia included acute respiratory infections 250 (59.45%), gastrointestinal infections 68 (16.1%), erythema 37 (8.79%), acute leukemia 15 (3.56%), urinary tract infection 5 (1.19%), and encephalitis/meningitis 4 (0.95%). Viral etiology accounted for 61.52% (259): influenza type A—50.19% (130), influenza type B—31.27% (81), dengue virus—14.67% (38), measles virus 1—93% (5), rotavirus—1.54% (4), and EBV—0.4% (1). Twenty-five patients (5.94%) were found to have bacteria in their cultures, with Streptococcus pneumonia being the most common (eight patients; 32%). Conclusions: Febrile neutropenia was common in children under 2 years old. Primary clinical manifestations were acute upper respiratory tract infections, and viruses most commonly caused febrile neutropenia. Further studies with larger sample sizes are needed to determine the cause of febrile neutropenia.

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 longterm 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 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.1770delC and c.1742delG), 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. [ABSTRACT FROM AUTHOR]

CD47 on live cells actively engages signal-regulatory protein-alpha (SIRP-alpha) on phagocytes and delivers a negative signal that prevents their elimination. We evaluated the biological consequences of SIRP-alpha ligation on the dendritic cell (DC) response to maturation signals and the potential interplay with the IL-10/IL-10R inhibitory pathway. At first, CD47/SIRP-alpha allowed the generation of mature migratory DCs not producing IL-12, IFN-gamma-inducible protein-10, and CCL19. Rather, they secreted neutrophils attracting chemokine CXCL5 and IL-1beta, reflecting a partial block in functional DC maturation. Afterward, semimature DCs functionally regressed in an IL-10-independent fashion toward cells that retrieved the cardinal features of immature DCs: re-expression of CCR5, loss of DC-lysosome-associated membrane protein, high endocytosis, and impaired allostimulatory functions. The global gene expression profile of IL-10 and SIRP-alpha-ligated DC demonstrated two distinct molecular pathways. IL-10R and SIRP-alpha expression were reciprocally down-regulated by CD47 and IL-10, respectively. These results emphasize that the SIRP-alpha pathway might be part of the molecular machinery used by the DC to dampen or resolve an inflammatory response in an IL-10-independent manner.