Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life-threatening underlying disease. Early correct recognition of the underlying cause leads to better treatment and prognosis. Currently, neonatal erythroderma is approached on a case-by-case basis. The purpose of this scoping review was to develop a diagnostic approach in neonatal erythroderma. After a systematic literature search in Embase (January 1990 - May 2020, 74 cases of neonatal erythroderma were identified, and 50+ diagnoses could be extracted. Main causes were the ichthyoses (40%) and primary immunodeficiencies (35%). Congenital erythroderma was present in 64% (47/74) of the cases, predominantly with congenital ichthyosis (11/11; 100%), Netherton syndrome (12/14, 86%) and Omenn syndrome (11/23, 48%). Time until diagnosis ranged from 102 days to 116 days for cases of non-congenital erythroderma and congenital erythroderma respectively. Among the 74 identified cases a total of 17 patients (23%) died within a mean of 158 days and were related to Omenn syndrome (35%), graft-versus-host disease (67%) and Netherton syndrome (18%). Disease history and physical examination are summarized in this paper. Age of onset and a collodion membrane can help to narrow the differential diagnoses. Investigations of blood, histology, hair analysis, genetic analysis and clinical imaging are summarized and discussed. A standard blood investigation is proposed, and the need for skin biopsies with lympho-epithelial Kazal-type related Inhibitor staining is highlighted. Overall, this review shows that diagnostic procedures narrow the differential diagnosis in neonatal erythroderma. A 6-step flowchart for the diagnostic approach for neonatal erythroderma during the first month of life is proposed. The approach was made with the support of expert leaders from international multidisciplinary collaborations in the European Reference Network Skin-subthematic group Ichthyosis.

Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa.

Bone status impairment represents a complication of generalized forms of epidermolysis bullosa (EB); however, the prevalence and the main determinants of this event in localized forms remain poorly defined. Birmingham epidermolysis bullosa severity (BEBS) score and 25-hydroxyvitamin D levels are strongly associated with low bone mass, suggesting that vitamin D may play a potential beneficial role in bone health. Further longitudinal studies are needed in order to confirm this hypothesis. INTRODUCTION: Bone status impairment represents a complication of generalized forms of EB; thus, we aimed to estimate the prevalence of low bone mass, to examine mineralization differences in various EB subtypes and to identify the most important determinants of bone impairment in children with either generalized or localized EB. METHODS: An observational study of 20 children (11 males; mean age ± standard deviation, 11.7 ± 3.9 years) with EB was performed. Clinical history, physical examination, laboratory studies, X-ray of the left hand and wrist for bone age, and dual energy X-ray absorptiometry scans of the lumbar spine were obtained. Areal bone mineral density (aBMD Z-scores) and bone mineral apparent density were related to the BEBS score. RESULTS: Areal BMD Z-score (mean -1.82 ± 2.33, range, -7.6-1.7) was reduced (<-2 SD) in 8 patients (40%), whereas aBMD Z-score adjusted for bone age was low in 7 patients (35%). BEBS score and 25-hydroxyvitamin D serum levels were the most important elements associated with aBMD (P = 0.0001 and P = 0.016, respectively). A significant correlation between the aBMD Z-score and area of skin damage, insulin-like growth factor-1, C-reactive protein, and sodium serum levels was also found. CONCLUSIONS: Low aBMD can be considered a systemic complication of EB, primarily associated with BEBS score and 25-hydroxyvitamin D levels. Therefore, longitudinal evaluation of bone status is ongoing in these patients to define whether vitamin D supplementation would prevent, or at least reduce, bone status impairment.

[Cerebral salt wasting syndrome in bacterial meningitis]. / Syndrome de perte de sel d'origine cérébrale avec hyponatrémie au cours d'une méningite bactérienne.

Subarachnoid hemorrhage is the most common cause of cerebral salt wasting syndrome. There are few reports of this condition in infectious meningitis. We describe a patient with hyponatremia and bacterial meningitis. Hyponatremia rapidly improved after administration of sodium chloride. The purpose of this report is to alert clinicians to the fact that hyponatremic patients with central nervous system disease do not necessarily have a syndrome of inappropriate secretion of antidiuretic hormone (SIADH), but may have cerebral salt wasting syndrome. By contrast with SIADH, the treatment requires saline administration.

[Conjugal progressive systemic sclerosis]. / Sclérodermie conjugale.

INTRODUCTION: Familial occurrence of progressive systemic sclerosis is unusual. The occurrence of conjugal scleroderma is exceptional. EXEGESIS: We report here a case of systemic sclerosis in a wife and husband who both developed the onset of illness within a 10-year period. Solvent exposure was noted. CONCLUSION: The etiology of systemic sclerosis remains unknown. Environmental factors may play role in its pathogenesis.

[Sjögren's syndrome with autonomic failure and epilepsy]. / Syndrome de Sjögren avec épilepsie et dysautonomie.

INTRODUCTION: Primary Sjogren syndrome is considered as the most frequent connective tissue disease. Neurological complications may affect the peripheral nervous system and to lesser extent the central nervous system. Autonomic system nervous dysfunction and epilepsy have been rarely reported. EXEGESIS: We present on case of Sjogren's syndrome with epilepsy and autonomic nervous system dysfunction. The epilepsia respond to valproate. CONCLUSION: Autoimmune investigations for Sjogren's syndrome should be initiated in any patient presenting with unexplained neurologic manifestations.

[Diagnosis and treatment of juvenile osteoporosis]. / Diagnostic et traitement de l'ostéoporose juvénile.

Bone mass is primarily genetically determined, but exogenous factors also play a major role. The prevention of osteoporosis can start from childhood, and optimal achievement of peak bone mass during childhood and adolescence is important in order to minimise future fracture risks. Chronic inflammatory diseases can have a detrimental effect on bone mass, by means of several mechanisms. Different diagnostic methods for detection and monitoring of osteoporosis are in use or under investigation. The role of calcium and vitamin D supplementation for the prevention and treatment of osteoporosis associated with paediatric rheumatic diseases remains to be established. New treatments such as bisphosphonates and calcitonin are now available, although their use in the paediatric age has been limited.

Creutzfeldt-Jakob disease with long duration and panencephalopathic lesions: molecular analysis of one case.

A 49-year-old woman presented with isolated aphasia followed by dementia and ataxia with a duration of 4 years. Histopathologically there was panencephalic involvement, status spongiosus, and kuru-type plaques. Molecular analysis showed heterozygosity at codon 129 in the prion protein (PrP) gene, and type 2 protease-resistant PrP. The comparison between this case and those previously reported suggests that the panencephalopathic variant of Creutzfeldt-Jakob disease (CJD) is an aspecific end-stage condition displayed by most if not all CJD variants in individual patients with an unusually prolonged course.

Acute pyelonephritis as a cause of hyponatremia/hyperkalemia in young infants with urinary tract malformations.

Obstructive uropathy causes tubular resistance to aldosterone and severe metabolic imbalance may be precipitated by an episode of pyelonephritis. In the last 3 years we investigated 52 episodes of pyelonephritis (positive urine culture, elevated C reactive protein, fever, elevated neutrophil count) in 50 children between 15 days and 15 months of age. Ultrasonography voiding cystography and renal scintiscan were performed in all cases and i.v. urography in some. A salt-losing syndrome with hyponatremia and hyperkalemia (Na < 125 meq/liter; K > 6.3 meq/liter) was observed in 17 infants < 3 months, accompanied by plasma aldosterone concentration of 5000 to 23,000 pg/ml (normal value, < 1000 pg/ml). All these children had a severe urinary tract (UT) malformation (ureteropelvic junction stenosis in 7 cases, vesicoureteral reflux in 7, posterior urethral valves in 2, double system in 1). Thirteen infants < 3 months, 7 with no urinary tract malformations, did not have electrolyte imbalance. Pyelonephritis was diagnosed in 20 other patients ages 4 to 15 months, including 16 with severe UT malformations; 4 had normal UTs. We conclude that a salt-losing syndrome with tubular resistance to aldosterone can occur during pyelonephritis in young infants with congenital UT malformation, that the risk diminishes considerably or disappears after 3 months of age and that in the absence of UT malformation pyelonephritis does not cause acute sodium loss of clinical relevance.

An unusual complication of the Le Veen shunt: a right atrial ventricular chamber pseudotumor.

We report the case of a right atrial-ventricular chamber thrombus discovered four years after insertion of a Le Veen shunt for treatment of refractory ascites. A two-dimensional echocardiogram, performed after the discovery of an isolated systolic murmur, demonstrated a "tumorlike" mass seated in both the right atrium and the right ventricle. The mass was surgically removed and histologic examination confirmed that it was a thrombus developed at the tip of the catheter. We propose that two-dimensional echocardiography should be performed periodically for the survey of such intracardiac devices.

Evaluation of the peritoneal equilibration test in children on chronic peritoneal dialysis.

The peritoneal equilibration test (PET) is routinely performed in adults treated with chronic peritoneal dialysis to assess the peritoneal transport rate and to optimize treatment prescription. Only a few and not well-standardized studies on the PET have been reported in children. Twenty-six PET's were performed in 16 children, mean age 10.9 +/- 4.9 years, mean body weight (BW) 26.8 +/- 11.9 kg, treated with nightly intermittent peritoneal dialysis (NIPD). The PET was performed according to Twardowski. Forty mL/kg BW of 2.27% glucose solution were infused at a rate of 10 mL/kg BW every 2 minutes. In the simplified test, dialysate samples were taken at dwell times 0, 2 and 4 hours for glucose and creatinine. A blood sample was taken after a 2-hour dwell time for the same parameters. The standard PET (8 patients) consisted of dialysate samples at 0, 15, 30, 60, 120, and 240 minutes and blood samples at 0 and 240 minutes. Mean D/P ratio for corrected creatinine and D/D0 ratio for glucose at 2 hours were 51.6 +/- 11.6 and 50.4 +/- 9, respectively; at 4 hours 69.6 +/- 12 and 34.4 +/- 9.8, respectively. There was good correlation between D/P creatinine and D/D0 glucose at 4 hours (p < 0.0001). Patients were classified as high (3 cases), high-average (5), low-average (6), and low (2) transporters. A statistically significant difference was found between the curves obtained by the simplified PET and those of the standard PET in the first hour (r = 0.66; p < 0.05). In conclusion, the PET, modified for use in children, gave reliable and reproducible results.(ABSTRACT TRUNCATED AT 250 WORDS)

Shortcomings in predicting postnatal renal function using prenatal urine biochemistry in fetuses with congenital hydronephrosis.

Ten fetuses with hydronephrosis underwent one to seven urine sampling procedures at 23 to 36 weeks' gestation to evaluate renal function. Postnatally, the infants' renal function was assessed by a combination of serum creatinine measurement, ultrasonography and renal scintigraphy. Six infants had pyelo-ureteric junction obstruction, two had megabladder with megaureter, and two had vesico-ureteric reflux. All infants had normal serum creatinine levels at the time of postnatal follow-up, but five of the seven with unilateral involvement had moderate or severe renal damage. Abnormal urinary electrolyte concentrations were found antenatally in only two of them. For the three infants with bilateral hydronephrosis, postnatal evaluation showed moderately or severely damaged kidneys despite prenatal evidence of normal biochemical indexes. Fetal urine electrolyte measurement may be accurate in the diagnosis of renal dysplasia, but its sensitivity is poor in predicting moderate renal dysfunction.

[Association of hereditary hemochromatosis and pernicious anaemia]. / Hémochromatose génétique et anémie de Biermer.

INTRODUCTION: Hereditary hemochromatosis is inherited as an autosomal recessive trait. It is characterized by increased absorption of dietary iron. The association between pernicious anaemia and hereditary hemochromatosis has never been described. EXEGESIS: We report a case of paradoxical association of hereditary hemochromatosis and pernicious anaemia. CONCLUSION: It seems that pernicious anaemia may prevent manifestations of hemochromatosis. We suppose that this protective role is due to atrophic body gastritis with iron malabsorption.

[Apropos of 2 cases of Scedosporium apiospermum nasosinusal infection]. / A propos de deux cas d'infection nasosinusienne à Scedosporium apiospermum.

We report two cases of nasosinusal infection caused by Scedosporium apiospermum and involving the nasal fossa in one case and the maxillary sinus in the other. The course of the disease varied according to the patient's immune status. The otherwise healthy patient (case n. 1) was completely cured by surgery, whereas the immunosuppressed patient (case n. 2) had local extension with pseudotumoral symptoms and lysis of the inter-sinusonasal septum; an early surgical treatment combined with local administration of a specific antifungal agent resulted in an apparent cure, but the patient died a few months later. A review of the literature confirms the invasive potential of this fungus which in immunosuppressed patients (by therapeutic immunosuppressants or by a debilitating disease) becomes a dangerous opportunistic organism. Cultures on Sabouraud's medium provide an accurate diagnosis and enable antifungal drugs to be tested, miconazole being the most regularly effective of them. In healthy subjects surgery is the sole treatment of nasal or sinusal lesions, while in all immunocompromised patients it must be combined with an antifungal treatment.

[Prevalence of clinical manifestations of allergic reactions in HIV infection. Cross sectional study of 115 subjects]. / Prévalence des manifestations cliniques évocatrices d'allergie au cours de l'infection par le VIH. Etude transversale de 115 sujets.

A cross sectional survey was set up to study the relation between the prevalence of allergic-type reactions during HIV infection course. For each patient, a standardized interview about recent allergic-type manifestations (RATM), skin prick-tests to six common airborne allergens, IgE serum level were done. Among the 115 included patients, the mean CD4 lymphocyte count (CD4) was 214.7/mm3 (range: 0-1328/mm3). RATM were found in 8.8% of patients with CD4 < 50, in 30% of patients with CD4 between 51 and 200, in 36% of patients with CD4 between 201 and 350 and in 11.5% of patients with CD4 < 350 (p = 0.03). The risk of presenting RATM was 4.8 times (95% confidence interval = 1.7-13.5) higher in patients with CD4 between 51 and 350 than in other patients (p = 0.003). The proportion of positive prick-tests did not significantly vary according to the level of CD4. The increased frequency of RATM in patients with CD4 between 51 and 350/mm3 could be due to an allergic predisposition acquired during the course of HIV infection. The mechanisms explaining the reduced frequency of allergic manifestations when immunodeficiency is profound (CD4 < 50/mm3) remain to be explained.

[Prostacyclin in the treatment of hemolytic-uremic syndrome: apropos of a case]. / Intérêt de la prostacycline dans le traitement du syndrome hémolytique et urémique: à propos d'un cas.

A 52 year-old man was hospitalised for acute renal failure with thrombocytopenia and hemolytic anemia without oliguria. A haemolytic-uremic syndrome was diagnosed and prostacyclin infusion was started. Twenty-four hours later, the renal function improved as well as thrombocytopenia and anemia. Recovery occurred after 11 days of treatment. Haemolytic-uremic syndrome treatment is not well codified: plasmaphoresis, fresh frozen plasma, transfusions showed inconstant efficiency and data about prostacycline treatment are rare and often contradictory. Multicentric studies must be started in order to determine the precise benefit of this treatment.

[Occupational exposure to cadmium and renal cancer. Apropos of a case]. / Exposition professionnelle au cadmium et cancer du rein. A propos d'un cas.

INTRODUCTION: Cadmium is a carcinogenic substance and bronchial and prostatic cancer may be readily identified as professional diseases. It is also a nephrotoxic substance but renal carcinoma are rarely imputed to this kind of intoxication. CASE REPORT: We report the observation of a 59-year-old woman with a long unprotected professional exposure to cadmium. She developed an epidermoid carcinoma of the kidney and later of the lung. Levels of cadmium in blood samples were abnormally high, confirming the existence of a chronic impregnation. CONCLUSION: We have judged cadmium to be responsible for her renal disease: the fact of a long unprotected professional exposure, the scarcity of renal epidermoid carcinoma, the well established nephrotoxicity of this substance and the association with other cancers, appear to us as convincing evidence, and the kidney cancer of our patient has been considered a professional disease.

[Mycobacterium marinum nodular lymphangitis]. / Lymphangite nodulaire due à Mycobacterium marinum.

BACKGROUND: Mycobacterium marinum has been recognized for some forty years. It generally occurs after trauma in a patient who manipulates tropical fish living in an aquarium. CASE REPORT: We report the case of an exotic fish seller who developed M. marinum nodular lymphangitis after being bitten by one of the fish. DISCUSSION: Nodular lesions occurring after trauma in subjects living in France who are in contact with exotic fish suggest the diagnosis of M. marinum. Nodular lymphangitis is seen in about 50% of the cases. Prolonged antibiotic therapy is required. Several antibiotics are effective including minocycline used in our case for 2 months after complete healing of the wound. Surgery is exceptionally required.

[Bronchial symptoms and respiratory function in the natural gas extraction industry. The role of Pi phenotype and chemical pollution]. / Symptômes bronchiques et fonction respiratoire dans l'industrie d'extraction des gaz naturels. Rôle du phénotype Pi et de la pollution chimique.

The aim of this study was to measure, in workers in the chemical industry, the frequency of symptoms and/or alteration in respiratory function according to the Pi phenotype and the occupational environment of each subject. 188 men (mean age 33) participated in a cross sectional study which included: a questionnaire on the working conditions, smoking habits and respiratory symptoms, a lung function test assessing bronchial flow rates, residual volume and CO lung transfer, laboratory investigations with determination of the Pi phenotype, blood concentration of alpha-1-antitrypsin (alpha-1-AT) and antielastase activity in the serum, a study of outdoor environment in each occupation. The Pi phenotype was divided as MM (75.5%) and non MM (24.5%). Both serum alpha 1AT concentration and antielastase activity were lower in non MM subjects than in MM ones. There was no difference between the 2 groups for age, smoking, working conditions, bronchial symptoms or respiratory function values that were within a normal range. The MM subjects stated that they were more exposed to dust, gas and cold; their absence from work for respiratory disorders was more frequent although in a non significant manner and their flow rates at low lung volumes was paradoxically worse than in non MM subjects. It is concluded that neither the outdoor environment nor the Pi phenotype play a role in the respiratory risk which requires, to be more comprehensively evaluated, a prospective study.

[An unusual form of neurosarcoidosis isolated in association with a tumoral lesion, chronic meningitis, hydrocephalus and hypothalamo-hypophyseal involvement]. / Une forme exceptionnelle de neurosarcoïdose isolée associant lésion tumorale, méningite chronique, hydrocéphalie et atteinte hypothalamo-hypophysaire.

A 30-year-old woman developed progressive left sided hemiparesis with intracranial hypertension signs. CT scan and MRI showed a large temporo parietal cystic mass with marked surrounding edema. Surgical excision was performed, and histological analysis revealed an inflammatory granuloma. No disease elsewhere was found and all classical causes of granulomas such as tuberculosis, toxoplasma, fungus infections, inflammatory diseases, lymphomas and cancers were excluded. No treatment was administered and she remained neurologically stable for two years. Afterwards, she developed chronic meningo-encephalitis, hypothalamic-pituitary dysfunction and hydrocephalus requiring decompression. Sarcoidosis was suspected, a steroid therapy was initiated, she gradually improved and a ventricular biopsy confirmed this diagnosis. Nervous system lesions complicate the course of sarcoidosis in 5 to 15% of patients and most commonly involve the cranial and peripheral nerves. CNS involvement is typically meningeal with a predilection for the hypothalamic region. Intracranial mass lesions are rare and their occurrence in the absence of disease elsewhere is still more unusual. Three presentations have been described: an isolated intra parenchymatous mass, multiples nodules, and subdural plaques, that can be mistaken for meningiomas, gliomas or metastases. When systemic manifestations of sarcoidosis are absent, the diagnosis is difficult, and Gd-enhanced MRI is now considered the diagnostic method of choice. However brain biopsy is sometimes necessary. Corticosteroids are the mainstay of therapy. Immunosuppressive agents are also used and brain irradiation has been tried in some refractory cases. Surgical approach may be indicated to establish tissue diagnosis, to perform decompression and to remove brain tumors.