P. Vabres

Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review

Backgroundu2002 Hereditary mucoepithelial dysplasia is a dominantly inherited disease, mainly characterized by chronic mucosal lesions associated with keratitis, non‐scarring alopecia, keratosis pilaris and perineal intertrigo. Since the original report by Witkop, this condition has been considered to be a disorder of desmosome/gap junction formation, but there has been no exu2003vivo investigation of these components using genetic and immunolabelling techniques.

Skin elastic fibers in Williams syndrome

The elastin gene is consistently deleted in Williams syndrome and as this protein represents the major component of the elastic fibers of the dermis, we sought to investigate skin elastic fibers in Williams syndrome as a key to unraveling extracellular matrix disorganization in this condition. Both morphometric parameters analyzed by using automated image analysis and immunofluorescence labeling with monoclonal antibodies against elastin and fibrillin 1 showed a disorganized pre-elastic (oxytalan and elaunin) and mature elastic fibers in the dermis of 10 Williams syndrome patients compared with five healthy children and one patient with isolated supravalvular aortic stenosis. Skin biopsies in Williams syndrome patients provide a simple mean to elucidate extracellular matrix anomalies. Hopefully, this method could give clues to the understanding of the elastic network anomalies in this condition and even to the consequences of these latter on elasticity and resilience of other tissues such as the arterial tree.

Psoriasis and obesity in French children: a case–control, multicentre study

Obesity is more common in adults with psoriasis than in the general population, but there is a lack of data available regarding this association in children.

Clinical and hemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations – data from the national paediatric French cohort CONAPE

Genetics discoveries have allowed for a better understanding of capillary malformations (CMs) associated with overgrowth syndrome. However, molecular analyses are still not easy to perform or interpret. Other analytical methods are needed.