Genetic Cause and Clinical Cure Found For Rare Skin Disorder

MedicalResearch.com Interview with:

Keith Adam Choate, MD, PhD, FAAD Associate Professor of Dermatology, of Genetics and of Pathology Director of Research, Dermatology Yale University School of Medicine New Haven, CT

Dr Choate

Keith Adam Choate, MD, PhD, FAAD
Associate Professor of Dermatology,
Genetics and Pathology
Director of Research, Dermatology
Yale University School of Medicine
New Haven, CT

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

Response:  Over the last 10 years, we have systematically been examining patients with ichthyosis to identify new genetic causes of this group of disorders.  We found that autosomal recessive mutations in KDSR cause ichthyosis and that the resulting skin disease is effectively treated with isotretinoin.


MedicalResearch.com: What should readers take away from your report?

Response: KDSR mutations are a cause of PSEK and systemic retinoids are effective therapy.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: We expect that continued investigation of ichthyosis cohorts will lead to the discovery of many new genes for this group of disorders.

The Foundation for Ichthyosis and Related Skin Types is the primary patient support organization for individuals with ichthyosis.  There is a link at their site – firstskinfoundation.org to join the National Registry for Ichthyosis and Related Skin Types.
MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Citation:

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma
Boyden, Lynn M. et al.
The American Journal of Human Genetics , Volume 100 , Issue 6 , 978 – 984

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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