Title:
HUTCHINSON-GILFORD SYNDROME (Abstract)
Prof.
Camillo O. Di Cicco, M.D.
Member
of “DNA Repair Interest Group” N.I.H.
16th Congress of the European Academy of Dermatology and Venereology, Vienna, AU.
Jonathan Hutchinson
(1828-1913) described “A case of congenital absence of hair with
atrophic condition of the skin and its appendages”. Lancet,
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
Subsequently
In the year 1904 published
“Progeria: a form of senilism”. Practitioner,
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.
HUTCHINSON-GILFORD SYNDROME IMAGES
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
THE PROGERIA RESEARCH FOUNDATION
TEXTBOOK of DERMATOLOGY - C. Di Cicco
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