HUTCHINSON-GILFORD SYNDROME
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Hutchinson-Gilford Syndrome is a extremely rare genetic condition. At present are described approximately 40 cases in the world and there are less than 100 cases documented in the history of the disease. The lifespan is 13,4 years, with a range from 7 to 27,6 years, generally dying to congestive heart failure or strokes The symptomatology appear approximately to 18/24 months of age and determines in a child to ten years of age cardiovascular, respiratory and arthritic problems similar to a person of seventy years. The clinical features shows wrinkled and aged skin, hairlessness, dwarfism, pinched nose, moreover mental growth is normal. Recent studies suggest that, as in other aging syndromes, the Hutchinson-Gilford syndrome is due at to a defect in the mechanism of DNA repair. Mutations have been found in the Lamin A gene (LMNA) situated on chromosome 1.
| Credits: | 16th Congress of the European Academy of Dermatology and Venereology |
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