At the same time wrote “Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six”. Transactions of the Medico-Chirurgical Society of Edinburgh, 69: 473-477, 1886.
Subsequently Hastings Gilford (1861-1941) wrote “On a condition of mixed premature and immature development”. Medico-Chirurgical Transactions, London, 80: 17-45, 1897 and coined the term Progeria from greek “Prematurely old”. In the year 1904 published “Progeria: a form of senilism”. Practitioner, London, 73: 188-217.
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.
Ayres and Mihan suggested that a defect in vitamin E metabolism may be at the root of progeria and they recommend vitamin E therapy for its antioxidant effects.
Moreover important is symptomatic therapy to prevent congestive heart failure or strokes. (Abstract).
Prof. Camillo O. Di Cicco, M.D. "Member of “DNA Repair Interest Group” 16th Congress of the European Academy of Dermatology and Venereology, Vienna, AU.
Comments