Defining the Skin and Blood Biomarkers of Ichthyosis

Objectives:

1. To define a panel of skin and blood biomarkers associated with disease activity and
pruritus in Netherton syndrome, lamellar ichthyosis, and other ichthyosis subtypes.

2. To determine if blood samples can serve as surrogates for skin immune activation and
will correlate with disease severity.

3. To determine FLG, SPINK5, TGM1, or other mutation via buccal/saliva samples in
ichthyosis subjects

4. To determine differences in alterations of epidermal lipids and proteins in the outer
stratum corneum of epidermis collected from tape strips in patients with ichthyosis
compared to the general population. There will also be a difference detected in
epidermal lipids from blood samples.

Inclusion Criteria:

- Control and ichthyosis subjects may be of either sex and must be between 1-60 years of
age at the time of enrollment

- Ichthyosis subjects include individuals with a diagnosis Netherton syndrome, lamellar
ichthyosis, or other ichthyosis subtypes

- Ichthyosis subjects should not have administered systemic immunosuppressant therapy in
the month before the study

- Ichthyosis subjects should not use topical immunosuppressants in the week before the
study

- Ichthyosis subjects should not have applied emollients to the planned biopsy sites
within 12 hours before biopsy, but can be applied elsewhere

- Controls may have no inflammatory disease, atopy, or obvious xerosis (urticaria, food
allergy, allergic rhinitis or conjunctivitis, asthma)

- Controls for skin sampling may have no observable abnormality in the sampled skin and,
to further assure the normality of the "normal" skin edges, must not have evidence of
inflammation or epidermal change in the lesion to be surgically removed

- Subjects and guardians of minors must sign the approved IRB consent form(s) prior to
initiation of the study protocol

Exclusion Criteria:

- Subjects who are unable to give informed consent or assent

- Subjects who administered anti-inflammatory systemic and topical therapy or emollients
that do not comply with inclusion criteria prior to blood and biopsy sampling

- Subjects whose main diagnosis is deemed unsafe by the study investigator for study
participation