No abstract

Erythrokeratodermia variabilis (EKV) is a skin disorder characterized by variable (transient) erythemas and fixed keratosis. The disorder maps to chromosome 1p34-35, a location that contains the GJB3 gene encoding the gap junction protein connexin 31. Until now, only heterozygote mutations in the form of dominant inheritance have been described in this gene associated with EKV. We report here a homozygote mutation in the connexin 31 gene, found in a family that shows recessive inheritance of the disorder, thus providing the first molecular support for a recessive variant of EKV. The entire GJB3 coding sequence was scanned for mutations by sequencing. We detected a T-->C transition at position 101 of the coding sequence, which replaces a leucine with a proline at residue 34 of the protein (L34P). Evolutionary analysis shows that this mutation is located at a highly conserved region of connexin in the first putative transmembrane helix (TMH). In transfected keratinocytes, L34P connexin 31 had a cytoplasmic distribution, suggesting that the mutant form of this protein will not form normal gap junctions between adjacent cells. The change of leucine to proline is likely to alter the structure of the first TMH of connexin by inducing a kink, thus influencing connexon structure and function.

To assess the relationships between skin and joint disease, 70 patients with psoriatic arthritis were consecutively evaluated. Data were obtained regarding age, sex, duration of disease, age at onset, and flares of both skin and joint disease. Rheumatological assessment included morning stiffness, number of swollen, tender and deformed joints, involvement of distal interphalangeal joints (DIP), presence of dactylitis, Achilles tendinitis, and clinical lumbar and cervical involvement. Skin assessment included recording of the distribution of skin lesions and nail involvement, and grading of psoriasis severity using the PASI. The scalp was the most frequently involved site. Significant correlation was found between the PASI score and the number of deformed joints and Schober's test. The scalp score was found to correlate with the number of swollen joints, deformed joints, sausage finger and DIP involvement. Synchronous flares of skin and joint were significantly more frequent in the patients with onset of skin and joint diseases within the same year. Likewise, these patients showed a highly significant association between the PASI score and the number of tender, swollen and deformed joints, Schober's test and cervical involvement, whereas no such associations were found among patients with separate onset of skin and joint diseases.

No abstract

The purpose of this study was to evaluate the immediate and delayed effects of balneotherapy at the Dead Sea on patients with psoriatic arthritis (PsA). A total of 42 patients with PsA were treated at the Dead Sea for 4 weeks. Patients were randomly allocated into two groups: group 1 (23 patients) and group 2 (19 patients). Both groups received daily exposure to sun ultraviolet rays and regular bathing at the Dead Sea. Group 1 was also treated with mud packs and sulfur baths. Patients were assessed by a dermatologist and a rheumatologist 3 days before arrival, at the end of treatment, and at weeks 8, 16, and 28 from the start of treatment. The clinical indices assessed were morning stiffness, right and left hand grip, number of tender joints, number of swollen joints, Schober test, distance from finger to floor when bending forward, patient's self-assessment of disease severity, inflammatory neck and back pain and psoriasis area and severity index (PASI) score. Comparison between groups disclosed a similar statistically significant improvement for variables such as PASI, morning stiffness, patient self-assessment, right and left grip, Schober test and distance from finger to floor when bending forward. For variables such as tender and swollen joints, and inflammatory neck and back pain, improvement over time was statistically significant in group 1. Addition of mud packs and sulfur baths to sun ultraviolet exposure and Dead Sea baths seems to prolong beneficial effects and improves inflammatory back pain.