Rapid clearing of acute generalized exanthematous pustulosis after administration of ciclosporin.

Acute generalized exanthematous pustulosis (AGEP) is a rare disorder, usually drug-induced, and is clinically characterized by widespread, non-follicular aseptic pustules. Although spontaneous resolution usually occurs once the causative drug has been withdrawn, more severe cases often require treatment with systemic corticosteroids. We report a 63-year-old woman who developed AGEP after a 30-day course of hydroxychloroquine. Extensive re-exacerbation of AGEP after an 18-day course of methylprednisolone led us to switch the treatment to oral ciclosporin with a prompt and satisfactory improvement. Ciclosporin has many inhibitory effects on the main cell population (T cells) involved in AGEP. In particular, a significant reduction in production of interleukin-8 by T cells is a possible explanation of the rapid remission observed in this case. To our knowledge, this is the first reported case of AGEP successfully treated with ciclosporin.

Holt-Oram syndrome associated with anomalies of the feet.

Holt-Oram syndrome (HOS) (OMIM 142900) is characterized by upper-extremity malformations involving the radial, thenar, or carpal bones and a personal and/or family history of congenital heart defects (CHDs). It is inherited in an autosomal dominant manner. The TBX5 gene located on chromosome 12 (12q24.1) is the only gene currently known to be associated with HOS and is associated with variable phenotypes. We report on the clinical and molecular characterization of a HOS family with three affected individuals and a novel mutation (Lys88ter). We discuss genotype-phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis.

Insulin, glucose and glycated hemoglobin in Alzheimer's and vascular dementia with and without superimposed Type II diabetes mellitus condition.

Increased concentrations of insulin, glucose and glycohemoglobin are associated with Type II diabetes mellitus (DM) and recognized as characteristic markers of the disease; in Alzheimer's (AD), Vascular dementia (VaD), and both dementia's with superimposed diabetes (AD + DM, VaD + DM) the knowledge is scarce. The sample (n = 122; males = 60; mean age = 73 +/- 7) comprised DM, AD, VaD, AD + DM, and VaD + DM patients, and healthy controls (C). The ANOVA's yielded significant differences between groups: Insulin p = 3.7 x 10(-3); Glucose p < 10(-12); Glycohemoglobin p = 9.2x10(-4). Comparisons between groups (DM vs. C, AD + DM vs. AD, VaD + DM vs. VaD, and demented DM vs. non-demented DM) resulted significant for all variables (Bonferroni's statistic, alpha = 0.05). Diabetic and diabetic demented patients presented significant increases largely different from controls (0.01 < p < 0.001), unlike the non-significant changes in their non-diabetic counterparts; linear relationships were found across all groups. The correlation's insulin/glucose and insulin/glycohemoglobin change to positive within demented groups, indicating a different performance of insulin in demented and non-demented subjects.

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.

Megalencephaly (MEG), or enlargement of the brain, can either represent a familial variant with normal cerebral structure, or a rare brain malformation associated with developmental delay and neurological problems. MEG has been split into two subtypes: anatomical and metabolic. The latter features a build-up inside the cells owing to metabolic causes. Anatomical MEG has been detected in many different conditions, including many overgrowth syndromes. In 2004 Mirzaa et al. reported five non-consanguineous patients with a new MCA/MR syndrome characterized by severe congenital MEG with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD). The authors argued that these findings identified a new and distinct malformation syndrome, which they named MPPH. We report on a new case of MPPH, the first to be described after the original series (Mirzaa et al., 2004).

Bullous tinea pedis in two children.

Tinea pedis is a dermatophytic infection with a high prevalence in adults and also occasionally observed in children. We report here two cases of bullous tinea pedis, one due to Trichophyton rubrum in a 6-year-old child and the second due to T. interdigitale in a 10-year-old child. We suggest that, despite the low prevalence of this infection in childhood, a potassium hydroxide test and a culture for fungi should always be performed when a child is examined for an inflammatory eruption of the feet.

Childhood allergic contact dermatitis from henna tattoo.

Henna is a shrub cultivated in India, Sri Lanka, and North Africa; it is used, mixed with other substances, as a hair and body dye. Several cases are reported in the literature of sensitization to para-phenylenediamine (PPD) contained in the henna tincture, but few of these are pediatric cases. We report two instances of allergic contact dermatitis due to temporary tattoos in children. In one case a patch test was positive for PPD. We suggest that the fashion of temporary henna tattoos in children is to be discouraged due to the serious consequences that a sensitization to PPD could have in their future.

Parkinson's disease is associated with oxidative stress: comparison of peripheral antioxidant profiles in living Parkinson's, Alzheimer's and vascular dementia patients.

Antioxidant profiles in Parkinson's disease (PD; n = 15), dementias of Alzheimer's type (DAT; 18) and Vascular (VD; 15), and control subjects (C; 14) were studied. Cu-Zn superoxide dismutase (SOD), catalase (CAT), glutathione system (GLU) and thiobarbituric acid reactive substances (TBARS) were measured in erythrocytes; antioxidant capacity (TRAP) in plasma. Biochemical variables were analyzed simultaneously using multi-variate and non-parametric methods. Clinical diagnostic resulted associated with the main source of variability in antioxidant variables (Kruskal-Wallis: H = 32.58, p = 0.000001). Comparison of PD and C resulted highly significant (z = 4.47, p = 0.000047), demonstrating an association between oxidative stress and PD. SOD and TBARS were significantly higher in pathological groups against C (p = 0.0000001, p = 0.051); TRAP resulted lower (p = 0.00015). Discriminant functions constructed using biochemical variables separated pathological groups (93% success) from C, and DAT (88.9%) from VD (73.3%); but not PD from DAT or VD. Antioxidant profiles of PD patients showed characteristics overlapping with DAT (60%) and with VD (40%), suggesting biochemical similarities between them.

Comparison of the determination of superoxide dismutase and antioxidant capacity in neurological patients using two different procedures.

As oxidative stress in relation with neurological diseases has become an important point in recent research, simple methods to be used in epidemiological studies and clinical practice are required. The hypothesis that the analytical methods used in research laboratories (RLM) can be used interchangeably with commercial kits (CKM) for SOD and TRAP is tested. Both methods were compared using linear transformations of the RLM measurements into the CKM scales. Data were obtained from Alzheimer's, Parkinson's, and vascular dementia patients and controls. The lack of fit and the run's test of residuals were not significant, but the same sign method detected significant nonlinearities (P<0.000001 for SOD, P<0.01 for TRAP). The intragroup CVs of both methods were comparable for TRAP, while in the RLM determinations of SOD resulted in <50% of those obtained with the CKM. The ANCOVA comparison of the regression parameters across the clinical groups resulted significant for SOD (P<0.0001) and not significant for TRAP. Both methods agree in describing the features of the clinical groups, but the degree of agreement at the individual concentration was poor and they could not be readily intercalibrated. Normal and pathological values should be obtained independently for the CKM to insure their applicability to large populations.