UAB Synopsis, Vol. 24, No. 5, February 14, 2005

Unique to Southeast

UAB's new Genetic Skin Disorders Clinic, a joint effort of the Departments of Genetics and Dermatology, is dedicated to diagnosis and management of skin disorders caused by a single gene defect. Genodermatoses include a wide array of disorders that can cause significant morbidity, compromise quality of life, and in some cases, result in early mortality.

The clinic — the only one of its kind in the Southeast — provides comprehensive services for newborns, children, and adults with a spectrum of skin conditions, including the phakomatoses, epidermolysis bullosa, the ichthyoses, and congenital abnormalities of the hair, nails, and sweat glands.

Genodermatoses can be inherited or triggered by spontaneous mutations, and onset can occur at any time from birth through adulthood, explains pediatric dermatologist Amy Theos, MD, codirector of the new clinic along with Department of Genetics Chair Bruce Korf, MD, PhD.

"The skin may be the earliest manifestation of systemic disease, and therefore, an important diagnostic marker, as with the ash leaf spots of tuberous sclerosis or the café au lait spots characteristic of neurofibromatosis," she says. Dr. Theos adds that while advances in molecular genetics have mapped a large number of these diseases at specific loci within the human genome, effective treatments remain limited.

Comprehensive Consultation

"Improving care for these patients is the clinic's number one goal," Dr. Theos says. "Genetic skin disorders are often challenging to diagnose and time consuming to manage; patients usually have many questions about genetic testing and reproductive issues. In most dermatology practices, the physician's time is too limited to comprehensively address all these needs, and patients are usually referred to a geneticist for additional evaluation. Our clinic allows patients to see a dermatologist and geneticist on the same day."

During clinic visits, patients are evaluated by both Dr. Theos and Dr. Korf, who discuss diagnosis, management, and genetic testing, and then meet with patients to educate them about their condition, explain treatment plans, and answer questions. Genetic counselors are also available.

The Genetic Skin Disorders Clinic offers:

• Evaluation of family history
  
• Examination, including thorough skin screening of patients and family members
  
• Specialized diagnostic testing
  
• Discussion of management and treatment recommendations
  
• Comprehensive treatment programs
  
• Genetic counseling to assist in family education and planning
  
• Opportunities to participate in clinical research projects
  

"We expect the clinic to attract a broad range of patients. We also hope to offer involvement in clinical research protocols, that will facilitate understanding of these rare disorders," Dr. Theos says.

The Genetic Skin Disorders Clinic, which accepts physician and self-referrals, meets one Thursday a month in the Hugh Kaul Human Genetics Building. For more information, or to refer a patient, contact genetic counselor Patricia Page at 205-934-5567 or page Dr. Theos at 205-934-3411 or www.ccweb.uab.edu.