Connective tissue nevus misdiagnosed as juvenile localized scleroderma.

BACKGROUND: Connective tissue nevi (CTN) are congenital hamartomas caused by excessive proliferation of dermis components. In children, CTN can mimic juvenile localized scleroderma (JLS), an immune mediated skin disorder that requires aggressive immunosuppression. OBJECTIVES: Aim of our study was to describe a series of pediatric patients with CTN misdiagnosed as JLS and the discerning characteristics between the two conditions. METHODS: Retrospective analysis of children referred to our Center during the last two decades for JLS who received a final diagnosis of CTN. Clinical, laboratory, histopathological and instrumental data (MRI and thermography) were collected and compared with those with JLS. RESULTS: Seventeen patients with mean age at onset 4.6 years entered the study. All came to our Center with a certain diagnosis of JLS (n = 15) or suspected JLS (n = 2). The indurated skin lesions were flat and resembled either circumscribed morphea or pansclerotic morphea. In 14 patients (82.4%) they were mainly localized at the lower limbs and in three (17.6%) at the upper limbs. No patient had laboratory inflammatory changes or positive autoantibodies. Skin biopsies confirmed the diagnosis of CTN: non-familial collagenoma in eleven (64.7%), mixed CTN in four (23.5%) and familial CTN in two (11.8%). Mean age at final diagnosis was 9.5 years, with a mean diagnostic delay of 4.8 years (range 1-15 years). Sixteen patients underwent musculoskeletal MRI that was normal in all except two who showed muscle perifascial enhancement. Thermography was normal in all patients. At our first evaluation, eleven patients (64.7%) were on systemic treatment (methotrexate 11, corticosteroids 7, biologics 2), three (17.6%) on topical corticosteroids and three untreated. CONCLUSIONS: CTN can be misdiagnosed as JLS and therefore aggressively treated with prolonged and inappropriate immunosuppression. The absence of inflammatory appearance of the skin lesions, normal instrumental and laboratory findings and the accurate evaluation of skin biopsy are crucial to address the right diagnosis.

Cone beam computed tomography for the assessment of linear scleroderma of the face.

BACKGROUND: To date, standardized methods for assessing the disease progression of linear scleroderma of the face (LSF) are lacking. OBJECTIVES: We investigated whether Cone Beam Computed Tomography (CBCT) may represent a reliable tool for assessing linear scleroderma of the face (LSF). METHODS: Ten patients with LSF and five age-matched controls underwent CBCT assessment. The transverse sections at three anatomic levels of the maxillofacial bones were analyzed. Measurements of soft tissue and total thickness of both affected and unaffected side of the face were made by a standardized methodology. Six raters evaluated CBCTs twice and blindly one from the other. The intra- and inter-rater reliability was assessed by the Intraclass Correlation Coefficient (ICC). RESULTS: CBCT was fast and well tolerated by the patients. The inter-rater concordance for the total thickness was excellent, mean ICC 0.75 for patients, 0.89 for controls. The mean ICC for soft tissue thickness was 0.49 for patients, 0.66 for controls. 58.3% of the measurements for patients and 91.2% of those for controls showed excellent ICC results (≥ 0.75). The intra-rater concordance resulted optimal (ICC 0.77-0.99). CONCLUSIONS: CBCT is a reliable technique to assess skin and bony changes of LSF.

Indications to upper gastrointestinal endoscopy in children with dyspepsia.

OBJECTIVES: The objective of the study was to ascertain the appropriateness of indications for upper gastrointestinal (UGI) endoscopy in children with dyspepsia. METHODS: We used the RAND/University of California at Los Angeles method to investigate the appropriateness of the opinions of a panel of experts. The panel judged 2304 theoretical patient scenarios defined by a combination of demographic and clinical variables. Descriptive and multivariate logistic regression analyses were performed. RESULTS: The panel rated UGI endoscopy as appropriate in 27.2% of cases, inappropriate in 14.3%, and dubious in 58.5%. Disagreement emerged for 21% of cases. UGI endoscopy was considered increasingly appropriate in cases with a positive family history of peptic ulcer and/or Helicobacter pylori infection (odds ratio [OR] 8.518, P < 0.0001), when dyspepsia interfered with activities of daily living ("sleep" OR 7.540, P < 0.0001; "normal activities" OR 5.725, P < 0.0001), and when patients were older than 10 years ("

Effects of insulin treatment on ketone body production and carnitine-palmitoyl-transferase (CPT) activity in the isolated perfused liver from streptozotocin diabetic rats.

The aim of the present paper was to evaluate the effects of in vivo insulin treatment of streptozotocin (SZ) diabetic rats on the metabolism of the isolated, perfused liver. Perfused livers from SZ-diabetic rats showed a higher ketone body production and a higher mitochondrial carnitine-palmitoyl-transferase (CPT) activity than controls, while triglyceride (TG) output and free-fatty-acid (FFA) uptake were significantly reduced. In vivo insulin treatment normalized both the ketogenic capacity of the liver and CPT activity, while FFA uptake and TG production were still lower than in controls. A significant correlation was found between total ketone body output and CPT activity. We suggest that In vivo insulin treatment of SZ-diabetic rats can modulate the ketogenic capacity of the isolated, perfused liver.

Glycerophosphate acetyltransferase activity in perfused liver of normal and hyperlipemic rats: glucagon effect.

Mitochondrial glycerophosphate-acetyltransferase activity (GPAT) was determined in the isolated and perfused liver of diet-induced hyperlipemic rats, and was found to be significantly increased compared to normal rats, A positive correlation existed between hepatic triglyceride output and GPAT. Perfusion of 10(-5) M glucagon induced a significant reduction in GPAT levels. It is suggested that the lipid-lowering action of glucagon may be mediated also through an inhibition of GPAT activity.

Effect of ethanol, acetaldehyde, and acetate on insulin and glucagon secretion in the perfused rat pancreas.

The effects of varying concentrations of ethanol (1, 10, and 30 mM) and its metabolites (1 mM acetate and 1 and 10 mM acetaldehyde) on insulin and glucagon secretion induced by glucose (11.1 mM) and arginine (20 mM) were studied in isolated perfused pancreas of Sprague-Dawley rats. Ethanol and its metabolites did not significantly modify basal secretion of the two hormones. Ethanol reduced glucose-induced insulin secretion by means of a dose-related effect. Arginine-induced insulin output did not seem to be influenced to any significant degree. Acetate and acetaldehyde significantly inhibited glucose and arginine-induced insulin secretion. While ethanol (10 and 30 mM ) did not modify glucagon output during arginine perfusion, acetate and acetaldehyde markedly enhanced it. The block of insulin secretion and the increased secretion of glucagon could explain the diabetogenic effect of ethanol demonstrated in vivo. The mechanism by which ethanol acts on the pancreatic beta- and alpha-cells is discussed.

Hypolipemic glucagon activity in isolated liver of genetic or acquired hypertriglyceridemic rats.

The glucagon effect (150 microgram/3 hrs) on isolated oleate-perfused (1.67 microEq/min) liver has been determined both in fa/fa obese hyperlipemic Zucker and diet-induced hyperlipemic Sprague Dawley rats and in the respective lean strains. Glucagon exerted a normal hypotriglyceridemic effect in hyperlipemic as well as in non-hyperlipemic rats. The ketone body output and the triglyceride liver content were not significantly modified by glucagon. Our data suggest that there is a normal liver responsiveness to the hyolipidemic action of glucagon and, consequently, that there is no glucagon resistance in genetically or diet-induced hyperlipermic rats.

Bromocriptine acute effect on insulin, glucagon and growth hormone levels in acromegalic patients.

It has been shown that L-dopa or dopamine administration influences glucose metabolism, as well as insulin and glucagon release in man. In the present study, the effect of bromocriptine (CB-154), a long-acting dopamine agonist, on insulin, glucagon and growth hormone secretion in 32 acromegalic patients was investigated. Glucose, insulin and plasma glucagon levels were not modified following administration of bromocriptine or placebo. Moreover, plasma GH levels were decreased by more than 50% in 18 of the 32 acromegalics. Mean GH levels were significantly lower with respect to levels observed following placebo at 60 min to the end of the test (p less than 0.001). Administration of a double dose of CB-154 (5 mg po) one hour before arginine test did not affect insulin or glucagon secretion with respect to levels observed during arginine alone. In addition, there was a fall in GH levels similar to that observed following administration of bromocriptine alone. These findings suggest that bromocriptine in itself does not exert a direct action on insulin and glucagon release. Improvement in glucose tolerance and reduction in insulin secretion observed following prolonged CB-154 treatment in acromegalic patients are probably due to a simultaneous inhibition of GH secretion or to other peripheral effects of bromocriptine.