PROGERIA

Hutchinson–Gilford progeria syndrome (HGPS) is a rare disorder that is usually inherited AD. The average patient lives 13 years. The cause is a mutation of the lamina A gene and targeted drug therapy, e.g. farnesyltransferase inhibitors are being investigated. The leading cause of death is usually stroke or myocardial infarction. Diagnosis is clinical and may be confirmed with genetic testing.

Clinical

Patients usually present within the first 12 months of life. Sclerodermoid changes of the skin are the most common and may occur on the abdomen or legs. Superficial veins may be prominent Alopecia is typical.

Treatment

Treatment is beyond the scope of this website. Of note, there is a Progeria Research Foundation which can be very helpful.

References

Dermatology Online Journal 2016;22(2)

World J Clin Cases. 2014 Mar 16;2(3):67-71

Indian Dermatol Online J 2015 ;6:438-40.


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