Palmar fasciitis and polyarthritis syndrome associated with transitional cell carcinoma of the bladder.

Palmar fasciitis and polyarthritis syndrome is a rare, disabling, paraneoplastic condition of unknown pathogenesis. There is no known effective treatment, although the condition may be halted by control of the cancer. Previously reported cases have mostly been in patients with advanced ovarian malignancies.

Inhaler-induced pigmentary changes in a 14-year-old girl.

We present a 14-year-old girl with self-induced areas of hypo- and hyperpigmenation on her forearm as a result of applying 10 blasts of an asthmatic aerosol inhaler directly to her skin. We emphasize the importance of being aware of potential danger associated with the common metered-dose inhaler when it is misused.

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have been described, the genetic basis underlying the clinical and cellular phenotypes of HI has yet to be determined. By use of single-nucleotide-polymorphism chip technology and homozygosity mapping, a common region of homozygosity was observed in five patients with HI in the chromosomal region 2q35.

Natural history of atopic dermatitis and its relationship to serum total immunoglobulin E in a population-based birth cohort study.

We investigated the natural history of atopic dermatitis (AD) in a population-based birth cohort and assessed whether children at risk of visible eczema at 5 years of age can be identified from total immunoglobulin E (IgE) levels measured at 8, 12 and 18 months. AD data collected included a whole body examination for visible eczema at 49 months (4 years) and 61 months (5 years) of age and parent completed questionnaire data throughout their early lives. Children were divided into four groups based on their natural history of early AD: persistent (AD at 1, 6, 18, 30 and 42 months, n = 34), intermittent early onset (before 18 months of age, n = 495), intermittent late onset (18-42 months of age, n = 273) and unaffected (n = 429).

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.

Distinct germline mutations in the gene (GJB3) encoding connexin 31 (Cx31) underlie the skin disease erythrokeratoderma variabilis (EKV) or sensorineural hearing loss with/without peripheral neuropathy. Here we describe a number of functional analyses to investigate the effect of these different disease-associated Cx31 mutants on connexon trafficking and intercellular communication. Immunostaining of a biopsy taken from an EKV patient harbouring the R42P mutation revealed sparse epidermal staining of Cx31, and, when present, it had a perinuclear localization.