Identifying the Genetic Predictors of Severe Acne Vulgaris and the Outcome of Oral Isotretinoin Treatment

Acne vulgaris is an under-studied common genetic disease with tremendous economic
consequences. Acne vulgaris is one of the most common skin conditions treated by doctors. It
affects 40-50 million people in the USA, with prevalence as high as 85% (recent study from
Iran was 93%) in teenagers; 18% of woman have late onset (>25yr) acne vulgaris. Severe acne
has a life-long psychosocial impact due to the significant scarring. Severe acne can also be
associated with severe systemic inflammatory disease with fever, sterile osteomyelitis,
inflammatory arthritis and other signs of systemic inflammatory responses. Some of these
syndromes in Mendelian form (e.g. PAPA syndrome) have known genetic defects. Finally, while
the data are inconclusive, there have been many suggestions that diet can exacerbate acne in
some patients. The standard of care treatment for severe acne is systemic retinoid therapy,
which, is usually, but not always effective. Unfortunately, systemic retinoid treatment is
associated with significant toxicity, including common cutaneous adverse effects (dry lips,
eyes, skin fragility), less common laboratory abnormalities such as elevated blood lipids,
liver function abnormalities, and severe predictable teratogenicity. In addition, systemic
therapy with retinoids has been associated with systemic diseases such as clinical
depression, suicide, and inflammatory bowel disease, however the mechanisms and significance
of these associations has not been determined. Given the frequency and severity of severe
acne, the predictable severe toxicity of systemic retinoid therapy, and the already
demonstrated genetic associations found in Mendelian forms of severe acne, it seems likely
that significant genetic risk factors may be identified in patients with severe acne which
would promote new and safer therapy, including dietary adjustment.

Inclusion Criteria:

- Diagnosed with severe acne while age > 12 and < 18, and

- Completed at least one course of oral isotretinoin treatment; OR started treatment but
discontinued prior to completion due to adverse side effects (with the exception of
dry skin - see "exclusion criteria"); OR are currently undergoing and plan to complete
treatment

Exclusion Criteria:

- Patients who are not willing to participate in this study

- Patients who experienced inflammatory bowel disease (IBD) prior to oral isotretinoin
treatment

- Patients who did not complete the oral isotretinoin treatment because of pregnancy,
dry skin, or reasons other than adverse side effects listed above

- Patients who are not willing to or cannot provide a blood sample for Murdock Study