Biomarkers of Lichen Sclerosus

Lichen sclerosus (LS) is a chronic, lymphocyte mediated cutaneous disorder affecting
approximately one in seventy women. Presenting symptoms may include intense pruritis, pain,
burning, and dyspareunia. This disorder may affect any area of the skin, but has a notable
predilection for the female genital region, in particular, the vulva, per anal area and the
groin. Affected females outnumber affected males by 13:1. Typically, the patient is a
menopausal woman, but prepubertal girls and women of all ages may be affected. The typical
lesions of lichen sclerosus are white plaques and papules, often with areas of ecchymosis,
excoriation, and ulceration. Often, there is destruction of the vulvar architecture with
scarring of the clitoral prepuce, resorption of the labia minora, and narrowing of the
introitus. Vulvar lichen sclerosus has a 4%-6% transformation malignant rate and women with
the disease are at a 250-fold increased risk for developing vulvar carcinoma than women
without lichen sclerosus. While the exact etiology of LS is as yet unknown, there is at least
a suggested genetic component as evidenced by case reports of familial LS, findings of
associations with HLA antigens, and high rates of concordance with other autoimmune disorder.

The purpose of this study is to determine the differences in the genomic/proteomic profiles
between LS and normal skin biopsies for women with active vulvar lichen sclerosus in order to
identify potential biomarkers that can be used for the prevention, early diagnosis and
effective treatment for LS. The study will aim to identify genes/proteins/glycoproteins
biomarkers that are associated with LS, select biomarkers associated with LS either
individual candidate biomarker or as a panel, validate the identified candidate biomarkers
for LS using targeted analysis of candidate biomarkers from independent LS specimen sets,
develop assays to determine the clinical utilities of the identified biomarkers as minimum
invasive tests for the early detection of LS and determine the clinical utility of biomarkers
for biopsy-based tissue tests for LS diagnosis and treatment.

Inclusion Criteria:

- 18-75 of age

- Diagnosis of active, Histologically proven, vulvar lichen sclerosus

Exclusion Criteria:

- Under the age of 18 or over the age of 75.

- Participants who are pregnant at the time of recruitment

- If, in the clinical opinion of Dr. Andrew Goldstein, she:

- does not have active LS

- has active infection

- has evidence of any other dermatologic disease of the vulva

- has evidence of neoplastic disease of the vulva

- If, in the opinion of Dr. Andrew Goldstein, they will be unable to keep the biopsy
sites clean until they heal.

- If the biopsy specimen sent to dermatopathology is not confirmatory for active lichen
sclerosus then the specimens obtained from that patient will be excluded from the
study.