A Cheek Nodule in a Child: Be Aware of Idiopathic Facial Aseptic Granuloma and Its Differential Diagnosis.

Background: Idiopathic facial aseptic granuloma (IFAG) is a rare skin disease that typically presents in children with one or more nontender, erythematous to violaceous nodules located on the cheeks or eyelids. Lesions are not accompanied by other skin abnormalities. IFAG remains a diagnostic challenge in pediatric dermatology, because several diseases may present with similar signs. Case presentation: A three-year-old girl with a previous negative clinical history was referred to our hospital for the evaluation of some asymptomatic nodules on the convexity of the left cheek. The nodules had appeared two months before, and had gradually increased in size. Her mother denied any association with trauma or insect bites. The nodules had a hard-elastic consistency, were moderately firm, and were not fluctuant. No associated lymphadenopathy was observed. The girl was afebrile and in good general condition. A histologic evaluation of a biopsy specimen revealed an inflammatory, granulomatous-diffuse infiltrate in the superficial and deep dermis consisting of giant cells, histiocytes, lymphocytes, neutrophils, eosinophils, and plasma cells. The Ziehl-Neelsen stains, Gram-stains, and cultures were negative. Suspecting an IFAG, treatment with topical fusidic acid and oral clarithromycin for 14 days was started. After two months, the lesion resolved and did not recur. Conclusion: This case shows how to differentiate IFAG from other dermatologic diseases associated with a negative evolution. Treatment with oral clarithromycin was effective in our patient. However, more scientific evidence is needed to evaluate the most suitable antibiotic therapy. Further studies are also needed to establish whether antibiotics actually impact IFAG prognosis.

What is the role of Ewingella americana in humans? A case report in a healthy 4-year-old girl.

BACKGROUND: Ewingella americana (Ea) is a Gram-negative, lactose-fermenting, oxidase-negative and catalase-positive bacterium that was first described in 1983 as a new genus and species in the family Enterobacteriaceae. It is not known whether Ea is a true pathogen or simply an opportunistic infectious agent, as most of the cases have been described in patients at risk. CASE PRESENTATION: A 4-year-old girl described here was hospitalized due to a productive cough over the previous 3 weeks and a fever > 38 °C associated with tachypnea over the previous 2 days. Her familial and personal medical histories were negative for relevant diseases, including respiratory infections. At admission, she was febrile (axillary temperature 39.2 °C) and had dyspnea with retractions, grunting and nasal flaring. A chest examination revealed fine crackling rales in the left upper field associated with bilateral wheezing. A chest X-ray revealed segmental consolidation of the lingula of the left lung. Laboratory tests revealed leukocytosis (15.,800 white blood cells/mm3 with 50.3% neutrophils), a slight increase in serum C-reactive protein (11.9 mg/L) and normal procalcitonin values (< 0.12 ng/mL). A nasopharyngeal swab culture did not reveal viral or bacterial respiratory pathogens, including atypical bacteria. A blood culture revealed the presence of a Gram-negative, lactose-fermenting rod that was oxidase negative and catalase positive. The isolate was identified by means of the VITEK®2 identification system (bioMérieux, Firenze, Italy) as Ea. This identification was confirmed by sequencing the 16 s ribosomal deoxyribonucleic acid (rDNA). The pathogen was sensitive to aminoglycoside, fluoroquinolones, carbapenems, cefotaxime, and ceftazidime but was intermediate against sulfametoxazole/trimethoprim and resistant to amoxicillin-clavulanic acid, fosfomycin, and oxacillin. The child was immediately treated orally with amoxicillin-clavulanic acid and erythromycin. Based on the results of a blood culture and sensitivity tests, the amoxicillin-clavulanic acid medication was stopped after 3 days. Erythromycin was continued for a total of 10 days, and the child was discharged after 3 days in the hospital. Follow-up visit 1 month later did not reveal any respiratory problems. CONCLUSION: This case shows that Ea infections in healthy subjects are mild even in pediatric age, and the need for antibiotic therapy is debated. Cases occurring in subjects with underlying chronic disease can be significantly more complicated and require appropriate antibiotic therapy.

Targetoid Skin Lesions in a Child: Acute Hemorrhagic Oedema of Infancy and Its Differential Diagnosis.

Acute hemorrhagic oedema of infancy (AHEI) is a cutaneous leukocytoclastic small-vessel vasculitis presenting with localized purpuric large skin plaques that are frequently associated with fever and oedema. It must be promptly differentiated from a number of diseases with similar dermatologic manifestations with potentially severe clinical courses that require adequate monitoring and prompt therapy to avoid the risk of a negative evolution. A 15-month-old girl with a negative personal medical clinical history was admitted for the sudden appearance of petechiae on the soft palate. The patient was moderately febrile during the following two days, with a maximum ear temperature of 38.3 °C. The fever disappeared on the third day, whereas the hemorrhagic rash progressively increased and extended to the limbs, face and auricles associated with a strong oedematous component. Moreover, on the second day of hospitalization, bilateral oedema of the metacarpophalangeal joints with joint pain appeared. The blood and serological tests showed an increase in C-reactive protein concentration (3.58 mg/dL) in the absence of leukocytosis and with a normal platelet count (180,000/mm³). The examination of the peripheral smear showed the presence of some large mononuclear elements with hyperbasophile cytoplasm. No alterations in platelet morphology were evidenced. The skin manifestations progressively diminished and disappeared spontaneously within 3 weeks, leaving no sequelae. Conclusion: This case shows the classic skin lesions of AHEI that require differentiation from those of more severe diseases that need prompt recognition and therapy. In this case, the age of the patient, the lack of systemic involvement and the favorable clinical course without therapy were typical. However, as these patients may present to the emergency department with an impressive clinical picture, the condition must be promptly diagnosed to avoid unnecessary diagnostic procedures and to reassure parents.

An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure.

In children with genetic syndromes, short stature is frequently a characteristic feature that, when associated with other specific manifestations, significantly aids in clinical diagnosis. In this report, an atypical case of Noonan syndrome (NS) in a 5.5-year-old child with mesomelic short stature is described. Genetic tests revealed two different mutations in this child. As expected in an NS case, a mutation in PTPN11 gene related to the RAS/MAPK signal transduction pathway was identified. Moreover, a mutation in the SHOX gene that was able to cause disproportionate short stature was detected. A clinical picture of NS with mesomelic short stature makes the diagnosis even more difficult as haploinsufficiency and complete loss of function of SHOX gene are associated with the typical differentiation and proliferation of chondrocytes, leading to mesomelic appearance. This case exemplifies the difficulties that can be encountered in achieving proper diagnoses for children with syndromic diseases and highlights the role of genetic tests in identifying final diagnoses in these patients.

Physiolgic hypercortisolism at onset of celiac disease in a girl: A case report.

RATIONALE: Celiac disease (CD) is an autoimmune disorder induced by dietary gluten in genetically predisposed subjects. Activation of the hypothalamic-pituitary-axis (HPA) can occur in patients with CD; however, this condition has never been described in overweight/obese CD children. PATIENT CONCERNS: A 12-year-old girl with CD was admitted with mild acanthosis nigricans of the armpits, groin and neck. Recently, extra fat appeared around the neck, and moon face was observed. The abdomen was globular and meteoric, treatable and not aching. She weighed 64 kilos (75°-97° percentile) and was 146 centimeters tall (3°-25° percentile) with a body mass index of 30 kg/mq. Laboratory tests revealed hypertriglyceridemia and positive anti-transglutaminase IgA. Cortisoluria was determined. Serum ACTH was normal. DIAGNOSES: This paper reports a case of a girl with CD in which both obesity and activation of HPA activity were noted. INTERVENTIONS: During follow-up, anti-transglutaminase IgA increased to 201.5 UI/mL. The patient was positive for anti-endomysium antibodies, and the HLA DQ2 haplotype was identified, confirming a diagnosis of CD. OUTCOMES: Despite a gluten-free diet, obesity and hyperadrenalism persisted, and anti-transglutaminase antibodies remained elevated. In addition, high cortisoluria persisted. A high-dose suppression dexamethasone test (8 mg) produced negative results with a morning cortisol value of 1 ng/mL, suggesting the diagnosis of pseudo-Cushing's syndrome. LESSONS: This case highlights that the first manifestation of CD could be being overweight, and this finding seems to support the need to prescribe laboratory tests for CD not only to children with failure to thrive, as commonly recommended, but also to those with increased body weight.

A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.

Early infantile epileptic encephalopathies (EIEEs) are a group of neurological disorders characterized by early-onset refractory seizures, severe electroencephalographic abnormalities, and developmental delay or intellectual disability. Recently, genetic studies have indicated that a significant portion of previously cryptogenic EIEEs are single-gene disorders. SPTAN1 is among the genes whose mutations are associated with EIEE development (OMIM# 613477). Here, a case of the c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 mutation associated with a severe EIEE is reported. This case shows that mutations in the α20 repeat in the C-terminal of αII spectrin can be associated with EIEE. Duplication seems essential to cause EIEE. This causation is not demonstrated for amino acid deletions in the same spectrin residues. Reportedly, children with p.(Asp2303_Leu2305del) and p.(Gln2304_Gly2306del) deletions have childhood-onset epilepsy and no or marginal magnetic resonance imaging abnormalities, suggesting that not only the location but also the type of mutation plays a role in conditioning nervous system damage. Further studies are needed for a better understanding of the phenotype/genotype correlation in SPTAN1-related encephalopathies.

Recurrent Renal Colic in a Patient with Munchausen Syndrome.

BACKGROUND: In most of the cases regarding children, factitious disorders (FDs) are intentionally produced by parents. Less attention is paid to FDs in which a child or adolescent intentionally induces or falsifies the disease to attain a patient's role. CASE PRESENTATION: A 13-year-old immigrated and adopted boy previously underwent an operation for renal joint syndrome and was affected by recurrent episodes of renal colic. The boy was admitted reporting acute left flank pain with scars on the mucous face of his prepuce and had a recent previous hospitalization for the same reason. Laboratory tests and radiological findings did not reveal any morphological or functional alterations. Self-induced FD was suspected, and a psychiatric consultation was performed. After psychiatric consultation and remission of the symptoms with a placebo, a diagnosis of Munchausen syndrome was suspected. The patient's uncle was not initially convinced of the diagnosis. Some videos clearly showed that the boy was handling his prepuce to excrete stones, explaining the scars. A therapeutic plan with psychiatrist support was later accepted with a positive outcome. No further signs and symptoms of renal colic were reported. CONCLUSIONS: It is recommended that paediatricians include FD in the differential diagnosis of a persistent and unexplained medical condition. If suspicion arises, confirmation and long-term therapy by a group of qualified specialists, including psychiatrists, should be planned.

Unusual Onset of Celiac Disease and Addison's Disease in a 12-Year-Old Boy.

BACKGROUND: Celiac disease (CD) is an autoimmune disorder deriving from an aberrant adaptive immune response against gluten-containing grains in genetically predisposed subjects. In a number of patients, CD is associated with one or more other autoimmune diseases. Primary Addison's disease (AD) and CD may co-exist, although this association is relatively uncommon in children. In addition, it is not precisely defined whether a gluten-free diet influences the course of AD. CASE PRESENTATION: A case of CD in a 12-year-old boy presenting as acute adrenal insufficiency is described here. A gluten-free diet had a significant therapeutic role in this case, wherein most of the clinical signs and symptoms of AD disappeared in a few days. In addition, the dosage of cortisol acetate, initially administered to treat the AD, was able to be rapidly reduced. CONCLUSION: This case highlights that CD can be associated with AD in children, and a gluten-free diet seems to positively influence the course of AD.

A Possible Pathogenic Linkage Among Headache, Migraine, and Nocturnal Enuresis in Children.

PURPOSE: This study aims to evaluate the prevalence of headaches and migraine in children with nocturnal enuresis (NE) and to improve knowledge on these conditions. In particular, for this purpose, a possible pathogenic relationship linking both conditions and the impact of headaches and migraine on NE persistence was evaluated. METHODS: Researchers enrolled 123 children with NE, aged between 5 and 15 years, referred to the Service of Pediatrics, Campus Bio-Medico University Hospital of Rome between January 2014 and January 2015. Parents of all children enrolled in the study were invited to complete a self-reported questionnaire. The study protocol was approved by the Human Research Ethics Committee of Campus-Bio-Medico University. The NE group data was compared with the data of a control group (107 children). RESULTS: Of the eligible patients, 7.8% suffer from headaches/migraine (mean age, 9.63 years; interquartile range [IQR], 3.5 years) and 47.1% have a family history of headaches (mean age, 8.46 years; IQR, 3.75 years). Of the 8 patients with headaches, all are male, 3 have tension-type headaches (2 of them have maternal family history) and 5 have migraine (3 of them have maternal family history). Of the 35.3% with a migraine family history (mean age, 8.36 years; IQR, 3.5 years), 22 are male, and 14 are female. Three of these patients have migraine. A total of 92.2% suffer from NE but not from headaches (mean age, 8.43 years; IQR, 3 years). Of these patients, 33 are female (35.1%), and 61 are male (64.9%). In the control group, 4.7% (5 out of 107) of the children suffer from headaches, and of these, 4 are affected by nonmigraine headaches and 1 by migraine. CONCLUSIONS: In conclusion, according to the hypothesis, NE and headaches/migraine could be linked by several similarities.

Femicide and murdered women's children: which future for these children orphans of a living parent?

BACKGROUND: To assess the prevalence of femicides in Italy over the last three years and the potential long lasting effects of these traumatic events for the children of a woman who dies a violent death. METHODS: The data used in this study come from an internet search for the number of femicides occurring in Italy between 1(st) January, 2012 and 31(st) October, 2014. RESULTS: The total number of femicides was 319; the average age of murdered women was 47.50 ± 19.26. Cold arms in the form of sharp object -mostly knives- have caused the death of 102/319 women; firearms were used in 87/319 cases; asphyxiation was the chosen method in 52/319 cases. About the place where the femicides occurred, 209/319 were committed inside the victim's house. Children of women who died a violent death were 417 with a total of 180 minors in less than three years. A total of 52/417 children were witness to the killing and, among these 30/52 were minors; in 18/417 cases, children were murdered together with their mother and among these 9/18 were minors. CONCLUSIONS: Long-term studies are needed to ascertain what happens to these children, to understand what are the most appropriate psychological treatments, the best decisions about the contact with their father and the best placement for these children.