Method for determination of a potential mutation

A method for non-invasive screening and prophylactically treating an individual for one or more loss-of-function mutation(s) in the gene encoding for filaggrin, the method comprising:

• determining whether the individual has a potential presence of one or more loss-of-function mutation(s) in the gene encoding for filaggrin by:
• (i) obtaining a Raman spectrum from the stratum corneum of a location of the body of said child;
• (ii) determining the local natural moisturising factor (NMF) content from the obtained vibrational spectrum;
• and
• (iii) comparing the local NMF content of the individual to a reference value based on the NMF determined by obtaining a Raman spectrum from the stratum corneum of the location of the body of a group of one or more individuals without a loss of function filaggrin gene mutation;
• and
• administering prophylactic treatment to the individual if NMF content in the stratum corneum of the location of the body of said individual is decreased compared to the reference value,
• wherein the individual is asymptomatic for skin conditions related to a loss-of-function mutation in the gene encoding filaggrin,
• wherein the location of the body is the thenar, 1-70 μm beneath the skin surface of the individual or the volar aspect of the forearm, 1-10 μm beneath the skin surface of the individual,
• wherein the local NMF content is determined from the intensity of a Raman signal of NMF relative to the intensity of a Raman signal of keratin, and
• wherein the prophylactic treatment targets the skin barrier and comprises at least one therapy chosen from oral antihistamines, topical emollients, topical doxepin, topical corticosteroids, topical hydrocortisones, topical immunomodulators, and ultraviolet light therapy.

A method for non-invasive screening and prophylactically treating an individual for one or more loss-of-function mutation(s) in the gene encoding for filaggrin, the method comprising:

• determining whether the individual has a potential presence of one or more loss-of-function mutation(s) in the gene encoding for filaggrin by:
• (i) obtaining a vibrational spectrum from the stratum corneum of a location of the body of the individual;
• (ii) determining the local natural moisturising factor (NMF) content from the obtained vibrational spectrum;
• and
• (iv) comparing the local NMF content of the individual to a reference value based on the NMF determined by obtaining a vibrational spectrum from the stratum corneum of the location of the body of a group of one or more individuals without a loss of function filaggrin gene mutation;
• and
• administering prophylactic treatment to the individual if NMF content in the stratum corneum of the location of the body of the individual is decreased compared to the reference value,
• wherein the individual is asymptomatic for skin conditions related to a loss-of-function mutation in the gene encoding filaggrin.

A method for non-invasive screening and treating an individual suffering from atopic dermatitis and receiving therapy therefore, the method comprising:

• determining whether the individual has a potential presence of one or more loss-of-function mutation(s) in the gene encoding for filaggrin by:
• (i) obtaining a vibrational spectrum from the stratum corneum of a location of the body of said individual;
• (ii) determining the local natural moisturising factor (NMF) content from the obtained vibrational spectrum;
• (iii) comparing the local NMF content of the individual to a reference value based on the NMF determined by obtaining a vibrational spectrum from the stratum corneum of the location of the body of a group of one or more individuals without a loss of function filaggrin gene mutation;
• and
• (iv) adjusting the therapy by directing it more specifically to skin barrier impairment if NMF content in the stratum corneum of the location of the body of said individual is decreased compared to the reference value by administering at least one therapy chosen from oral antihistamines, topical emollients, topical doxepin, topical corticosteroids, topical hydrocortisones, topical immunomodulators, and ultraviolet light therapy, instead of or in addition to the therapy already received by the individual.