Genetics of Aggressive Skin Cancers in Patients with ‘Butterfly’ Skin Identified

MedicalResearch.com Interview with:

Dr Andrew South, PhD, Associate Professor in the department of Dermatology and Cutaneous Biology at Jefferson (Philadelphia University + Thomas Jefferson University) 

Dr. South

Dr Andrew South, PhD,
Associate Professor in the department of Dermatology and Cutaneous Biology at Jefferson (Philadelphia University + Thomas Jefferson University) 

MedicalResearch.com: What is the background for this study? Would you briefly explain what is meant by Butterfly Syndrome or recessive dystrophic epidermolysis bullosa?

Response: Epidermolysis Bullosa, or EB, is a group of genetic diseases caused by mutations in genes which play a role in maintaining skin integrity. An EB patients’ skin can be very fragile which has been likened to butterfly wings, which are also very fragile. Skin blisters are common in EB patients and in some cases large wounds can result from the slightest mechanical trauma, hence the term Butterfly Syndrome.

Skin cancer is a major complication of patients with the recessive dystrophic subtype of EB, known as recessive dystrophic epidermolysis bullosa or RDEB, and these cancers, called squamous cell carcinoma (SCC), are very aggressive. SCC is the leading cause of death in patients with RDEB. SCC also arise very early, affecting RDEB patients in their 20’s and 30’s. Our study used genetic analysis of cancers collected from patients to try and determine what causes the cancer at such an early age and what causes these cancers to be so fatal. Skin SCC arising in the general population as a result of sun exposure are generally benign and occur much later in life, regular skin SCC patients are predominantly over the age of 60, therefore something must be different about RDEB SCC.  Continue reading

Two Polyomaviruses Linked To Dermatoses in Immunocompromised Patients

MedicalResearch.com Interview with:

Richard Wang, M.D., Ph.D. Assistant Professor UT Southwestern Medical Center

Dr. Wang

Richard Wang, M.D., Ph.D.
Assistant Professor
UT Southwestern Medical Center

MedicalResearch.com: What is the background for this study? What are the main findings?

Response:

Currently, there are 13 polyomaviruses known to infect humans. Several members of this family of double-stranded DNA viruses—including Merkel Cell Polyomavirus, Trichodysplasia Spinulosa Polyomavirus, Human Polyomavirus 6 (HPyV6), and Human Polyomavirus 7 (HPyV7)—can be shed from skin of healthy individuals. While most polyomavirus infections are common and subclinical, several polyomaviruses have been associated with debilitating diseases in immunocompromised individuals. Most recently, HPyV7 was discovered in a pruritic and dyskeratotic eruption in two immunosuppressed transplant patients. A closely related polyomavirus, Human Polyomavirus 6, has not yet been strongly linked to any infectious diseases. Using the previously described, characteristic histologic pattern, we identify 3 additional cases of skin eruptions associated with infections of HPyV6 and HPyV7. The association of the dermatoses with highly active infections were confirmed through electron microscopy, immunohistochemistry, quantitative PCR, and complete sequencing. HPyV7 infects keratinocytes and affects their normal differentiation. In addition, next generation sequencing revealed that HPyV6 could persist in a latent state in the skin of a previously infected patient.

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10-Year Mortality Risk Raised With Atopic Dermatitis, But Lower Than Psoriasis

MedicalResearch.com Interview with:

Alexander Egeberg, MD PhD National Allergy Research Centre, Departments of Dermato-Allergology and Cardiology Herlev and Gentofte University Hospital, University of Copenhagen Hellerup, Denmark

Dr. Alexander Egeberg

Alexander Egeberg, MD PhD
Gentofte Hospital
Department of Dermatology and Allergy
Hellerup Denmark

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: In recent years, numerous studies have examined the impact of psoriasis and associated comorbidities, and found a reduced lifespan in particular among patients with severe disease. However, little is known about the impact and burden of adults with atopic dermatitis. We looked at the 10-year survival among patients hospitalized for atopic dermatitis, and compared these with patients hospitalized for psoriasis, as well as with subjects from the general population.

Our main finding was that, although the mortality risk was higher for atopic dermatitis compared with general population control subjects, the risk was significantly lower compared with psoriasis patients.

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