Impact of filaggrin mutations on Raman spectra and biophysical properties of the stratum corneum in mild to moderate atopic dermatitis.

BACKGROUND: Atopic dermatitis (AD) is associated with null mutations in the filaggrin (FLG) gene. OBJECTIVE: To assess the impact of FLG null mutations on biophysical properties and the molecular composition of the stratum corneum (SC) in healthy individuals and AD patients. METHODS: A total of 196 French adults, including 97 with a history of mild to moderate AD, were genotyped for the three major European FLG mutations. Components of the natural moisturizing factor (NMF), lipids and water content in the SC were determined using Raman spectroscopy. In addition, trans-epidermal water loss, capacitance and pH of the SC were measured. RESULTS: Stratum corneum concentrations of total NMF, water, ornithine and urocanic acid (UCA) were significantly lower in AD patients than in healthy controls. Null mutations of FLG were detected in 4% of controls and 10% of AD patients. FLG mutations were associated with increased SC levels of lactate, reduced concentrations of most other NMF components and higher disease severity in AD patients. In AD patients without FLG mutations, the content of NMF constituents decreased with increasing disease severity. The concomittant presence of low concentrations of histidine, alanine and either glycine or pyrrolidone-5-carboxylic acid (PCA) in the SC was associated with FLG mutations with 92% specificity. CONCLUSIONS: Our findings suggest a low prevalence of FLG mutations in mild AD and support an important role for filaggrin in determining the physicochemical parameters of the SC. The combined measurement of several filaggrin breakdown products in the SC may be useful to specifically predict the presence of FLG mutations.

Reference ranges of skin micro-relief according to age in French Caucasian and Japanese women.

BACKGROUND/PURPOSE: The variation of skin surface morphological indicators according to age has not been frequently studied. The aim of this work was to establish French Caucasian and Japanese reference ranges of these indicators according to age. METHODS: Two studies were performed simultaneously in Paris and Sendai on 356 Caucasian and 120 Japanese healthy women aged from 20 to 80 years. Skin replicas were obtained from the volar forearm and analysed by interferometry. This analysis yielded 16 morphological indicators. Reference ranges according to age were established using the statistical methodology defined by Royston. RESULTS/DISCUSSION: Reference ranges were found for 15 out of the 16 parameters for the French women as well as for the Japanese women. The models' truthfulness will have to be confirmed using new samples, larger if possible. Moreover, non-parametric methods will be used in order to compare the results provided by these approaches.