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.

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Jonathan  Hutchinson
(1828-1913) described  A case of congenital absence of hair with atrophic condition of the skin and its appendages”. Lancet, London, 1: 923, 1886.

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.



 


HUTCHINSON-GILFORD SYNDROME IMAGES 


HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS 


HUTCINSON-GILFORD PROGERIA 


THE PROGERIA RESEARCH FOUNDATION 


TEXTBOOK of DERMATOLOGY - C. Di Cicco

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