Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study : Dr. Thyssen

Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study

Author Interview: Dr. Jacob Pontoppidan Thyssen MD PhD

Fissured dry skin is a genetic trait

A 37-year-old female heterozygous filaggrin mutation carrier presenting with fissured skin on the dorsal aspect of the finger.

What are the main findings of the study?
We show that common loss-of-function mutations in the filaggrin gene affecting 8-10% of Northern Europeans are associated with fissured skin on the hands and fingers.

Were any of the findings unexpected?
No, we had the a priori hypothesis as we knew that the mutations in the filaggrin gene are associated with dry skin. Furthermore, we have made the clinical observation from patients seen in our clinic.

What should clinicians and patients take away from this study?
Fissured skin is indeed a genetic trait and information can be relevant.

Also, hand eczema in individuals with filaggrin mutations is characterized by dermatitis on the dorsal aspects of the hands and fingers as well as skin fissures.

What recommendations do you have for future research as a result of your study?
More studies should be conducted to describe the phenotype of patients with the filaggrin mutations.

Reference:

Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study

J.P. Thyssen, K. Ross-Hansen, J.D. Johansen, C. Zachariae, B.C. Carlsen, A. Linneberg, H. Bisgaard, C.G. Carson, N.H. Nielsen, M. Meldgaard,
P.B. Szecsi, S. Stender, T. Menné

British Journal of Dermatology, 166: 46–53. doi: 10.1111/j.1365-2133.2011.10530.x

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by on January 25, 2012  •  Permalink
Posted in Author Interviews, Dry Skin, Eczema, Genetic Research
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