Clinical Trial: Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population

Brief Summary: The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris. Atopic dermatitis, or eczema, is a common, chronic, relapsing and remitting problem in many children and affects 10-20% of the pediatric population. Itch is a predominant feature of this disease and is quite disruptive to daily activities of life. In addition to itch, it is characterized by markedly dry skin, small red bumps that may have fluid. Ichthyosis vulgaris is characterized by extremely dry, scaly skin with a fine white scale and increased amounts of lines noted on the palms. Filaggrin is a protein that is essential for the skin to function properly as a barrier and found to be mutated in some European patients with ichthyosis vulgaris and atopic dermatitis. This association has not been looked at in the African American population. Genomic DNA (gDNA) will be purified from buccal swabs using commercially available kits and analyzed.

Detailed Summary:

Genetic screening and molecular dermatology allow physicians and scientists to screen populations who manifest a specific genetic disorder of skin, hair or nails and to study animal models for experiment-induced dermatopathology, diseases, and treatments. The purpose of such screening is to identify the gene(s) involved in eliciting the phenotypic characteristics that we as clinicians identify for diagnosis and treatment of said disease(s).

The field of genetics in dermatology has progressed immensely in the last 20 years and has strongly influenced the practice of dermatology. Most known single gene disorders, such as epidermoloysis bullosa, have been mapped to a particular chromosomal region and in many cases, the causative genes have been identified. However, more common diseases that are polygenic in origin such as atopic dermatitis remain a challenge to decipher. In addition, there still remain several monogenic disorders in which the underlying genetic basis is unclear.

In some cases, genetic analysis can be performed by sequencing entire genes or gene regions, or screening for specific common mutations. In the Japanese and some of the European populations, several researchers have been able to find an association between people with atopic dermatitis and ichythosis vulgaris and the filaggrin gene. Atopic dermatitis, or ezcema, is a common, chronic, relapsing and remitting problem in many children and affects 10-20% of the pediatric population. Atopic dermatitis is often called the itch that rashes, since itch is a predominant feature of this disease and is quite disruptive to daily activities of life. In addition to itch, it is characterized by markedly dry skin, small red bumps that may have fluid. Though treatments are available to help the rash resolve and to help with itch, this disease will continue to appear w
Sponsor: Northwestern University

Current Primary Outcome: Heterozygous for Filaggrin (FLG) Null Mutations [ Time Frame: 1 month ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Northwestern University

Dates:
Date Received: November 17, 2009
Date Started: June 2010
Date Completion:
Last Updated: April 10, 2015
Last Verified: April 2015